| Year |
Citation |
Score |
| 2024 |
Kiianitsa K, Lukes ME, Hayes BJ, Brutman J, Valdmanis PN, Bird TD, Raskind WH, Korvatska O. TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing. Brain : a Journal of Neurology. PMID 38226698 DOI: 10.1093/brain/awae014 |
0.316 |
|
| 2023 |
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, ... ... Bird T, et al. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. American Journal of Human Genetics. PMID 37301203 DOI: 10.1016/j.ajhg.2023.05.009 |
0.315 |
|
| 2022 |
Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S, Valdmanis PN. Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. Brain : a Journal of Neurology. PMID 35949106 DOI: 10.1093/brain/awac294 |
0.324 |
|
| 2020 |
Yu CE, Chen S, Jayadev S, Bird T. Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia. Journal of the Neurological Sciences. 418: 117143. PMID 32977230 DOI: 10.1016/J.Jns.2020.117143 |
0.369 |
|
| 2020 |
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, Hein von SM, Clark HB, Nguyen HP, Förster E, Beller A, ... ... Bird TD, et al. Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1. Human Molecular Genetics. PMID 32761094 DOI: 10.1093/Hmg/Ddaa139 |
0.358 |
|
| 2020 |
Ma MT, Chen DH, Raskind WH, Bird TD. Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants. Neuromuscular Disorders : Nmd. PMID 32600828 DOI: 10.1016/J.Nmd.2020.05.005 |
0.393 |
|
| 2020 |
Chen DH, Latimer C, Yagi M, Ndugga-Kabuye MK, Heigham E, Jayadev S, Meabon JS, Gomez CM, Keene CD, Cook DG, Raskind WH, Bird TD. Heterozygous missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. Neurology. Genetics. 6: 1-13. PMID 32211513 DOI: 10.1212/Nxg.0000000000000397 |
0.344 |
|
| 2020 |
Chen DH, Latimer CS, Spencer M, Karna P, Gonzalez-Cuyar LF, Davis MY, Keene CD, Bird TD, Raskind WH. Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. Movement Disorders Clinical Practice. 7: 70-77. PMID 31970214 DOI: 10.1002/Mdc3.12873 |
0.307 |
|
| 2019 |
Wheeler JM, McMillan P, Strovas TJ, Liachko NF, Amlie-Wolf A, Kow RL, Klein RL, Szot P, Robinson L, Guthrie C, Saxton A, Kanaan NM, Raskind M, Peskind E, Trojanowski JQ, ... ... Bird T, et al. Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain. Science Translational Medicine. 11. PMID 31852801 DOI: 10.1126/Scitranslmed.Aao6545 |
0.329 |
|
| 2019 |
Liachko NF, Saxton AD, McMillan PJ, Strovas TJ, Keene CD, Bird TD, Kraemer BC. Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy. Plos Genetics. 15: e1008526. PMID 31834878 DOI: 10.1371/Journal.Pgen.1008526 |
0.356 |
|
| 2019 |
Latimer CS, Burke BT, Liachko NF, Currey HN, Kilgore MD, Gibbons LE, Henriksen J, Darvas M, Domoto-Reilly K, Jayadev S, Grabowski TJ, Crane PK, Larson EB, Kraemer BC, Bird TD, et al. Resistance and resilience to Alzheimer's disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort. Acta Neuropathologica Communications. 7: 9. PMID 31174609 DOI: 10.1186/S40478-019-0743-1 |
0.35 |
|
| 2019 |
Aoyagi A, Condello C, Stöhr J, Yue W, Rivera BM, Lee JC, Woerman AL, Halliday G, van Duinen S, Ingelsson M, Lannfelt L, Graff C, Bird TD, Keene CD, Seeley WW, et al. Aβ and tau prion-like activities decline with longevity in the Alzheimer's disease human brain. Science Translational Medicine. 11. PMID 31043574 DOI: 10.1126/Scitranslmed.Aat8462 |
0.343 |
|
| 2019 |
Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, ... ... Bird TD, et al. Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. Annals of Clinical and Translational Neurology. 6: 762-777. PMID 31020001 DOI: 10.1002/Acn3.755 |
0.438 |
|
| 2018 |
Mukherjee S, Mez J, Trittschuh EH, Saykin AJ, Gibbons LE, Fardo DW, Wessels M, Bauman J, Moore M, Choi SE, Gross AL, Rich J, Louden DKN, Sanders RE, Grabowski TJ, ... Bird TD, et al. Genetic data and cognitively defined late-onset Alzheimer's disease subgroups. Molecular Psychiatry. PMID 30514930 DOI: 10.1038/S41380-018-0298-8 |
0.34 |
|
| 2018 |
Bird TD, Smith CO. Clinical approach to the patient with neurogenetic disease. Handbook of Clinical Neurology. 147: 3-9. PMID 29325619 DOI: 10.1016/B978-0-444-63233-3.00001-4 |
0.388 |
|
| 2018 |
Condello C, Lemmin T, Stöhr J, Nick M, Wu Y, Maxwell AM, Watts JC, Caro CD, Oehler A, Keene CD, Bird TD, van Duinen SG, Lannfelt L, Ingelsson M, Graff C, et al. Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 29311311 DOI: 10.1073/Pnas.1714966115 |
0.353 |
|
| 2017 |
Chen DH, Ma M, Scavina M, Blue E, Wolff J, Karna P, Dorschner MO, Raskind WH, Bird TD. An Eight Generation Family With CMTX: Confirmation Of The Pathogenicity Of A 3'Untranslated Region Mutation In GJB1 And Its Clinical Features. Muscle & Nerve. PMID 29236290 DOI: 10.1002/Mus.26037 |
0.395 |
|
| 2017 |
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, ... ... Bird TD, et al. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. The Journal of Experimental Medicine. PMID 29127204 DOI: 10.1084/Jem.20170453 |
0.323 |
|
| 2017 |
Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Novel pregnancy-triggered episodes of CAPOS syndrome. American Journal of Medical Genetics. Part A. PMID 29090527 DOI: 10.1002/Ajmg.A.38502 |
0.323 |
|
| 2017 |
Blue EE, Yu CE, Thornton TA, Chapman NH, Kernfeld E, Jiang N, Shively KM, Buckingham KJ, Marvin CT, Bamshad MJ, Bird TD, Wijsman EM. Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. Genes, Brain, and Behavior. PMID 29045054 DOI: 10.1111/Gbb.12429 |
0.426 |
|
| 2017 |
Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, Hoffer ZS, Montine TJ, Gonzalez-Cuyar LF, Bird TD, Keene CD. Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son. Journal of Huntington's Disease. PMID 29036832 DOI: 10.3233/Jhd-170261 |
0.382 |
|
| 2017 |
Pearl JR, Heath LM, Bergey DE, Kelly JP, Smith C, Laurino MY, Weiss A, Price ND, LaSpada A, Bird TD, Jayadev S. Enhanced retinal responses in Huntington's disease patients. Journal of Huntington's Disease. 6: 237-247. PMID 28968243 DOI: 10.3233/Jhd-170255 |
0.314 |
|
| 2017 |
Turk KW, Flanagan ME, Josephson S, Keene CD, Jayadev S, Bird TD. Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra. Cerebellum (London, England). PMID 28887803 DOI: 10.1007/S12311-017-0882-5 |
0.306 |
|
| 2017 |
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Bird TD, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916 |
0.361 |
|
| 2017 |
Raghuram V, Weber S, Raber J, Chen DH, Bird TD, Maylie J, Adelman JP. Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms. Neuroreport. PMID 28240725 DOI: 10.1097/Wnr.0000000000000754 |
0.35 |
|
| 2017 |
Tosto G, Bird TD, Tsuang D, Bennett DA, Boeve BF, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Bertlesen S, Graff-Radford NR, Medrano M, Lantigua R, Manly J, et al. Polygenic risk scores in familial Alzheimer disease. Neurology. PMID 28213371 DOI: 10.1212/Wnl.0000000000003734 |
0.415 |
|
| 2017 |
Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP. The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 174: 113. PMID 27943640 DOI: 10.1002/Ajmg.B.32510 |
0.363 |
|
| 2017 |
Mukherjee S, Mez J, Trittschuh E, Saykin AJ, Gibbons LE, Sanders RE, Fardo DW, Wessels M, Bauman J, Moore MR, Choi S, Gross AL, Grabowski TJ, Bird TD, Snitz BE, et al. PSYCHOMETRICALLY-DEFINED LATE-ONSET ALZHEIMER’S DISEASE (LOAD) SUBGROUPS IN 5 STUDIES (TOTAL N = 4,170): PREVALENCE AT FIRST VISIT, ASSOCIATIONS WITH APOE GENOTYPE AND IGAP SNPS, AND GWAS Alzheimer's & Dementia. 13: P1488. DOI: 10.1016/J.Jalz.2017.07.570 |
0.301 |
|
| 2016 |
Schneider SA, Bird T. Huntington's Disease, Huntington's Disease Look-Alikes, and Benign Hereditary Chorea: What's New? Movement Disorders Clinical Practice. 3: 342-354. PMID 30713928 DOI: 10.1002/Mdc3.12312 |
0.367 |
|
| 2016 |
Tsuang DW, Bird TD. Genetic factors in neurodegenerative diseases. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27770499 DOI: 10.1002/Ajmg.B.32504 |
0.343 |
|
| 2016 |
Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, et al. The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. Jama Neurology. PMID 27533593 DOI: 10.1001/Jamaneurol.2016.2539 |
0.331 |
|
| 2016 |
Liachko NF, Saxton AD, McMillan PJ, Strovas TJ, Currey HN, Taylor LM, Wheeler JM, Oblak AL, Ghetti B, Montine TJ, Keene CD, Raskind MA, Bird TD, Kraemer BC. The phosphatase calcineurin regulates pathological TDP-43 phosphorylation. Acta Neuropathologica. PMID 27473149 DOI: 10.1007/S00401-016-1600-Y |
0.319 |
|
| 2016 |
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. American Journal of Human Genetics. 98: 1146-1158. PMID 27259050 DOI: 10.1016/J.Ajhg.2016.04.009 |
0.387 |
|
| 2016 |
Yuan P, Condello C, Keene CD, Wang Y, Bird TD, Paul SM, Luo W, Colonna M, Baddeley D, Grutzendler J. TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy. Neuron. 90: 724-739. PMID 27196974 DOI: 10.1016/J.Neuron.2016.05.003 |
0.33 |
|
| 2016 |
Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP. The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27111571 DOI: 10.1002/Ajmg.B.32452 |
0.41 |
|
| 2016 |
Domoto-Reilly K, Davis MY, Keene CD, Bird TD. Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M). American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26990251 DOI: 10.1002/Ajmg.B.32443 |
0.431 |
|
| 2016 |
Sandford E, Bird TD, Li JZ, Burmeister M. PRICKLE2 Mutations Might Not Be Involved in Epilepsy. American Journal of Human Genetics. 98: 588-9. PMID 26942291 DOI: 10.1016/J.Ajhg.2016.01.009 |
0.347 |
|
| 2015 |
Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurology. Genetics. 1: e29. PMID 27066566 DOI: 10.1212/Nxg.0000000000000029 |
0.398 |
|
| 2015 |
Kunkle BW, Jaworski J, Barral S, Vardarajan B, Beecham GW, Martin ER, Cantwell LS, Partch A, Bird TD, Raskind WH, DeStefano AL, Carney RM, Cuccaro M, Vance JM, Farrer LA, et al. Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 26365416 DOI: 10.1016/J.Jalz.2015.05.020 |
0.426 |
|
| 2015 |
Barral S, Vardarajan BN, Reyes-Dumeyer D, Faber KM, Bird TD, Tsuang D, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Lantigua R, Medrano MZ, Wang X, et al. Genetic variants associated with susceptibility to psychosis in late-onset Alzheimer's disease families. Neurobiology of Aging. 36: 3116.e9-3116.e16. PMID 26359528 DOI: 10.1016/J.Neurobiolaging.2015.08.006 |
0.347 |
|
| 2015 |
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, ... Bird TD, et al. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study. Jama Neurology. PMID 26076170 DOI: 10.1001/Jamaneurol.2015.0979 |
0.431 |
|
| 2015 |
Kamat SS, Camara K, Parsons WH, Chen DH, Dix MM, Bird TD, Howell AR, Cravatt BF. Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay. Nature Chemical Biology. 11: 164-71. PMID 25580854 DOI: 10.1038/Nchembio.1721 |
0.301 |
|
| 2015 |
Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, ... ... Bird TD, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. Jama Neurology. 72: 209-16. PMID 25531812 DOI: 10.1001/Jamaneurol.2014.2157 |
0.375 |
|
| 2015 |
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, ... Bird TD, et al. R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family clinical, genetic, and neuropathological study Jama Neurology. 72: 920-927. |
0.336 |
|
| 2014 |
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/Jamaneurol.2014.1491 |
0.379 |
|
| 2014 |
Davis MY, Keene CD, Jayadev S, Bird T. The co-occurrence of Alzheimer's disease and Huntington's disease: a neuropathological study of 15 elderly Huntington's disease subjects. Journal of Huntington's Disease. 3: 209-17. PMID 25062863 DOI: 10.3233/Jhd-140111 |
0.392 |
|
| 2014 |
Ryman DC, Acosta-Baena N, Aisen PS, Bird T, Danek A, Fox NC, Goate A, Frommelt P, Ghetti B, Langbaum JB, Lopera F, Martins R, Masters CL, Mayeux RP, McDade E, et al. Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. Neurology. 83: 253-60. PMID 24928124 DOI: 10.1212/Wnl.0000000000000596 |
0.382 |
|
| 2014 |
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, ... ... Bird TD, et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Annals of Neurology. 75: 542-9. PMID 24700542 DOI: 10.1002/Ana.24119 |
0.403 |
|
| 2014 |
Cornejo-Olivas MR, Yu CE, Mazzetti P, Mata IF, Meza M, Lindo-Samanamud S, Leverenz JB, Bird TD. Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease. Neuroscience Letters. 563: 140-3. PMID 24495933 DOI: 10.1016/J.Neulet.2014.01.016 |
0.447 |
|
| 2014 |
Vardarajan BN, Faber KM, Bird TD, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ, Ottman R, Schaid DJ, Foroud TM, et al. Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA). Jama Neurology. 71: 315-23. PMID 24425039 DOI: 10.1001/Jamaneurol.2013.5570 |
0.377 |
|
| 2014 |
Richardson RC, Tarleton JC, Bird TD, Gospe SM. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. Muscle & Nerve. 49: 593-600. PMID 23893571 DOI: 10.1002/Mus.23976 |
0.376 |
|
| 2014 |
Schreiber M, Bird TD, Tsuang DW. Alzheimer’s Disease Genetics Current Behavioral Neuroscience Reports. 1: 191-196. DOI: 10.1007/S40473-014-0026-X |
0.376 |
|
| 2013 |
Kalimo H, Lalowski M, Bogdanovic N, Philipson O, Bird TD, Nochlin D, Schellenberg GD, Brundin R, Olofsson T, Soliymani R, Baumann M, Wirths O, Bayer TA, Nilsson LN, Basun H, et al. The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ. Acta Neuropathologica Communications. 1: 60. PMID 24252272 DOI: 10.1186/2051-5960-1-60 |
0.412 |
|
| 2013 |
Davis MY, Keene CD, Swanson PD, Sheehy C, Bird TD. Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. Journal of the Neurological Sciences. 335: 134-8. PMID 24090759 DOI: 10.1016/J.Jns.2013.09.014 |
0.362 |
|
| 2013 |
Kluenemann HH, Nutt JG, Davis MY, Bird TD. Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. Journal of the Neurological Sciences. 335: 219-20. PMID 24035292 DOI: 10.1016/J.Jns.2013.08.033 |
0.408 |
|
| 2013 |
Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, ... Bird TD, et al. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Human Mutation. 34: 1672-8. PMID 24027063 DOI: 10.1002/Humu.22437 |
0.39 |
|
| 2013 |
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, ... ... Bird T, et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 81: 1332-41. PMID 24027057 DOI: 10.1212/Wnl.0B013E3182A8250C |
0.424 |
|
| 2013 |
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, ... ... Bird TD, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Human Molecular Genetics. 22: 3259-68. PMID 23595882 DOI: 10.1093/Hmg/Ddt180 |
0.395 |
|
| 2013 |
Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. Jama Neurology. 70: 736-41. PMID 23588422 DOI: 10.1001/2013.Jamaneurol.537 |
0.471 |
|
| 2013 |
Jayadev S, Bird TD. Hereditary ataxias: overview. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 673-83. PMID 23538602 DOI: 10.1038/Gim.2013.28 |
0.344 |
|
| 2013 |
Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 80: 824-8. PMID 23365052 DOI: 10.1212/Wnl.0B013E318284076D |
0.412 |
|
| 2013 |
Zhao W, Marchani EE, Cheung CY, Steinbart EJ, Schellenberg GD, Bird TD, Wijsman EM. Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 162: 201-12. PMID 23355194 DOI: 10.1002/Ajmg.B.32133 |
0.394 |
|
| 2013 |
Roxburgh RH, Marquis-Nicholson R, Ashton F, George AM, Lea RA, Eccles D, Mossman S, Bird T, van Gassen KL, Kamsteeg EJ, Love DR. The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. Journal of Neurology. 260: 1286-94. PMID 23269439 DOI: 10.1007/S00415-012-6792-Z |
0.422 |
|
| 2013 |
Li G, Bekris LM, Leong L, Steinbart EJ, Shofer JB, Crane PK, Larson EB, Peskind ER, Bird TD, Yu CE. TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 9: 554-61. PMID 23183136 DOI: 10.1016/J.Jalz.2012.06.009 |
0.341 |
|
| 2013 |
Roxburgh RH, Smith CO, Lim JG, Bachman DF, Byrd E, Bird TD. The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease. Journal of the Neurological Sciences. 324: 176-8. PMID 23083689 DOI: 10.1016/J.Jns.2012.09.030 |
0.369 |
|
| 2013 |
Vardarajan B, Bennett D, Bird T, Boeve B, Farlow M, Foroud T, Goate A, Graff-Radford N, Ottman R, Rosenberg RN, Schaid D, Sweet R, Tsuang D, Bennett J, Davis B, et al. Age-specific incidence rates of Alzheimer's disease in family members participating in the NIA-LOAD genetics study Alzheimers & Dementia. 9. DOI: 10.1016/J.Jalz.2013.05.1266 |
0.395 |
|
| 2012 |
Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human Molecular Genetics. 21: 5472-83. PMID 23001565 DOI: 10.1093/Hmg/Dds392 |
0.41 |
|
| 2012 |
Area-Gomez E, Del Carmen Lara Castillo M, Tambini MD, Guardia-Laguarta C, de Groof AJ, Madra M, Ikenouchi J, Umeda M, Bird TD, Sturley SL, Schon EA. Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. The Embo Journal. 31: 4106-23. PMID 22892566 DOI: 10.1038/Emboj.2012.202 |
0.322 |
|
| 2012 |
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/Archneurol.2012.54 |
0.422 |
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| 2012 |
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, ... ... Bird TD, et al. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Human Molecular Genetics. 21: 3500-12. PMID 22556362 DOI: 10.1093/Hmg/Dds161 |
0.41 |
|
| 2012 |
Barral S, Bird T, Goate A, Farlow MR, Diaz-Arrastia R, Bennett DA, Graff-Radford N, Boeve BF, Sweet RA, Stern Y, Wilson RS, Foroud T, Ott J, Mayeux R. Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory. Neurology. 78: 1464-71. PMID 22539578 DOI: 10.1212/Wnl.0B013E3182553C48 |
0.334 |
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| 2012 |
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Bird TD, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067 |
0.399 |
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| 2012 |
Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. Plos One. 7: e31039. PMID 22312439 DOI: 10.1371/Journal.Pone.0031039 |
0.459 |
|
| 2012 |
Postupna N, Rose SE, Bird TD, Gonzalez-Cuyar LF, Sonnen JA, Larson EB, Keene CD, Montine TJ. Novel antibody capture assay for paraffin-embedded tissue detects wide-ranging amyloid beta and paired helical filament-tau accumulation in cognitively normal older adults. Brain Pathology (Zurich, Switzerland). 22: 472-84. PMID 21999410 DOI: 10.1111/J.1750-3639.2011.00542.X |
0.319 |
|
| 2012 |
Chen DH, Raskind WH, Bird TD. Spinocerebellar ataxia type 14. Handbook of Clinical Neurology. 103: 555-9. PMID 21827914 DOI: 10.1016/B978-0-444-51892-7.00036-X |
0.393 |
|
| 2012 |
Klein C, Nicholson G, Bird T, Kwok J, Wu Y, Lincoln S, Dyck P, Taner N. DNA-Methyltransferase1 Mutation Screening in Hereditary Sensory Neuropathy 1 (HSAN1) with Dementia and Hearing Loss, Familial Frontotemporal Dementia and Alzheimer's Disease (S27.006) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S27.006 |
0.404 |
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| 2012 |
Siskind C, Feely S, Burns J, Zuchner S, Pareyson D, Herrmann D, Scherer S, Bird T, Lloyd T, Sumner C, Croker S, Krischer J, Muntoni F, Finkel R, Neal S, et al. Update - Inherited Neuropathies Consortium (P05.144) Neurology. 78: P05.144-P05.144. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.144 |
0.32 |
|
| 2012 |
Chen D, Davis M, Mefford H, Sul Y, Naydenov A, Barloon AS, Wolff J, Matsushita M, Smith C, Stella N, Raskind W, Bird T. Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141) Neurology. 78: P05.141-P05.141. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.141 |
0.38 |
|
| 2012 |
Olivas MC, Leverenz J, Lindo-Samanamud S, Mata I, Soler PM, Meza-Vega M, Yu C, Bird T. Clinical and Molecular Studies Reveal a PSEN1 Mutation (L153V) in a Peruvian Family with Early-Onset Alzheimer's Disease (P05.072) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.072 |
0.466 |
|
| 2012 |
Davis M, Smith C, Sheehy C, Batish SD, Swanson P, Bird T. Novel Mutations in Ataxia Telangiectasia and AOA2 Associated with Prolonged Survival (P05.028) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.028 |
0.311 |
|
| 2011 |
Choi Y, Marchani EE, Bird TD, Steinbart EJ, Blacker D, Wijsman EM. Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 785-98. PMID 21812099 DOI: 10.1002/Ajmg.B.31220 |
0.392 |
|
| 2011 |
Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred). Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2134-6. PMID 21656851 DOI: 10.1002/Mds.23776 |
0.313 |
|
| 2011 |
Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 597-605. PMID 21577118 DOI: 10.1097/Gim.0B013E31821D69B8 |
0.415 |
|
| 2011 |
Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL, Brooks WS, Halliday GM, Kril JJ, ... ... Bird TD, et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Archives of Neurology. 68: 488-97. PMID 21482928 DOI: 10.1001/Archneurol.2011.53 |
0.383 |
|
| 2011 |
Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). Plos One. 6: e17811. PMID 21479265 DOI: 10.1371/Journal.Pone.0017811 |
0.389 |
|
| 2011 |
Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB. Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Annals of Neurology. 69: 712-20. PMID 21416485 DOI: 10.1002/Ana.22264 |
0.461 |
|
| 2011 |
Wijsman EM, Pankratz ND, Choi Y, Rothstein JH, Faber KM, Cheng R, Lee JH, Bird TD, Bennett DA, Diaz-Arrastia R, Goate AM, Farlow M, Ghetti B, Sweet RA, Foroud TM, et al. Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. Plos Genetics. 7: e1001308. PMID 21379329 DOI: 10.1371/Journal.Pgen.1001308 |
0.382 |
|
| 2011 |
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. American Journal of Human Genetics. 88: 138-49. PMID 21276947 DOI: 10.1016/J.Ajhg.2010.12.012 |
0.312 |
|
| 2011 |
Ringman JM, Gylys KH, Medina LD, Fox M, Kepe V, Flores DL, Apostolova LG, Barrio JR, Small G, Silverman DH, Siu E, Cederbaum S, Hecimovic S, Malnar M, Chakraverty S, ... ... Bird TD, et al. Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neuroscience Letters. 487: 287-92. PMID 21094210 DOI: 10.1016/J.Neulet.2010.10.039 |
0.423 |
|
| 2011 |
Wilson RS, Barral S, Lee JH, Leurgans SE, Foroud TM, Sweet RA, Graff-Radford N, Bird TD, Mayeux R, Bennett DA. Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study. Journal of Alzheimer's Disease : Jad. 23: 249-55. PMID 20930268 DOI: 10.3233/Jad-2010-101515 |
0.302 |
|
| 2011 |
Ringman JM, Gylys KH, Medina LD, Fox M, Kepe V, Flores DL, Apostolova LG, Barrio JR, Small G, Silverman DH, Siu E, Cederbaum S, Hecimovic S, Malnar M, Chakraverty S, ... ... Bird TD, et al. Corrigendum to " Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation" [Neurosci. Lett. 487 (2011) 287-292] Neuroscience Letters. 491: 163. DOI: 10.1016/J.Neulet.2011.01.021 |
0.433 |
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| 2011 |
Leverenz J, Bird T, Rumbaugh M, Yu C, Cruchaga C, Steinbart E, Ravits J. Is the Arg5His MAPT variant pathogenic for dementia and motor neuron disease Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.569 |
0.31 |
|
| 2011 |
Li GG, Bekris L, Steinbart E, Bird T, Yu C. P1-245: TOMM40 Poly-T Length Variant and Age-At-Onset in Familial AD Caused by PSEN1 and PSEN2 Mutation Alzheimer's & Dementia. 7: S189-S189. DOI: 10.1016/J.Jalz.2011.05.525 |
0.348 |
|
| 2011 |
Lee J, Cheng R, Pankratz N, Wijsman E, Bird T, Foroud T, Mayeux R. A Genome-Wide Study of Familial Alzheimer’s Disease Supports Additional Candidate Genes: The NIA-LOAD/NCRAD Family Study Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.524 |
0.37 |
|
| 2010 |
Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology. 75: 1968-75. PMID 21115951 DOI: 10.1212/Wnl.0B013E3181Ffe4Bb |
0.403 |
|
| 2010 |
Bekris LM, Yu CE, Bird TD, Tsuang DW. Genetics of Alzheimer disease. Journal of Geriatric Psychiatry and Neurology. 23: 213-27. PMID 21045163 DOI: 10.1177/0891988710383571 |
0.426 |
|
| 2010 |
Tsuang DW, Jayadev S, Bird TD. Updates on the genetics of neurodegenerative disorders. Journal of Geriatric Psychiatry and Neurology. 23: 211-2. PMID 20923756 DOI: 10.1177/0891988710383575 |
0.338 |
|
| 2010 |
Kay DM, Stevens CF, Hamza TH, Montimurro JS, Zabetian CP, Factor SA, Samii A, Griffith A, Roberts JW, Molho ES, Higgins DS, Gancher S, Moses L, Zareparsi S, Poorkaj P, ... Bird T, et al. A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology. 75: 1189-94. PMID 20876472 DOI: 10.1212/Wnl.0B013E3181F4D832 |
0.364 |
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| 2010 |
Bird TD. Approaches to the patient with neurogenetic disease. Clinics in Laboratory Medicine. 30: 785-93. PMID 20832652 DOI: 10.1016/J.Cll.2010.07.009 |
0.367 |
|
| 2010 |
Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. Journal of the Neurological Sciences. 296: 22-9. PMID 20633900 DOI: 10.1016/J.Jns.2010.06.017 |
0.394 |
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| 2010 |
Poorkaj P, Raskind WH, Leverenz JB, Matsushita M, Zabetian CP, Samii A, Kim S, Gazi N, Nutt JG, Wolff J, Yearout D, Greenup JL, Steinbart EJ, Bird TD. A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 1409-17. PMID 20629132 DOI: 10.1002/Mds.23085 |
0.405 |
|
| 2010 |
Woltjer RL, Duerson K, Fullmer JM, Mookherjee P, Ryan AM, Montine TJ, Kaye JA, Quinn JF, Silbert L, Erten-Lyons D, Leverenz JB, Bird TD, Pow DV, Tanaka K, Watson GS, et al. Aberrant detergent-insoluble excitatory amino acid transporter 2 accumulates in Alzheimer disease. Journal of Neuropathology and Experimental Neurology. 69: 667-76. PMID 20535038 DOI: 10.1097/Nen.0B013E3181E24Adb |
0.35 |
|
| 2010 |
Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel A, Wijsman EM, Bird TD. The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Archives of Neurology. 67: 631-3. PMID 20457965 DOI: 10.1001/Archneurol.2010.87 |
0.448 |
|
| 2010 |
Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain : a Journal of Neurology. 133: 1143-54. PMID 20375137 DOI: 10.1093/Brain/Awq033 |
0.452 |
|
| 2010 |
Marchani EE, Bird TD, Steinbart EJ, Rosenthal E, Yu CE, Schellenberg GD, Wijsman EM. Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1031-41. PMID 20333730 DOI: 10.1002/Ajmg.B.31072 |
0.408 |
|
| 2010 |
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, ... ... Bird TD, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American Journal of Human Genetics. 86: 343-52. PMID 20170900 DOI: 10.1016/J.Ajhg.2010.01.027 |
0.397 |
|
| 2010 |
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, ... ... Bird TD, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature Genetics. 42: 234-9. PMID 20154673 DOI: 10.1038/Ng.536 |
0.358 |
|
| 2010 |
Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Archives of Neurology. 67: 161-70. PMID 20142524 DOI: 10.1001/Archneurol.2009.328 |
0.392 |
|
| 2010 |
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140: 74-87. PMID 20074521 DOI: 10.1016/J.Cell.2009.12.011 |
0.345 |
|
| 2010 |
Leverenz JB, Zabetian C, Steinbart EJ, Nickel K, Rumbaugh M, Montine TJ, Bird TD. Four siblings with variable clinical and pathological characteristics of Alzheimer's and Lewy body disease Alzheimers & Dementia. 6. DOI: 10.1016/J.Jalz.2010.05.768 |
0.352 |
|
| 2010 |
Cruchaga C, Chakraverty S, Haller G, Kevin M, Vallania FL, Robi MD, Bird TD, Diaz-Arrestia R, Boeve B, Bradley B, Graff-Radford NR, Mayeux R, Goate A. Implications and frequency of APP, PSEN1, PSEN2, GRN and MAPT mutation in a well-characterized series of late-onset Alzheimer families Alzheimers & Dementia. 6. DOI: 10.1016/J.Jalz.2010.05.615 |
0.413 |
|
| 2010 |
Steinbart E, Rumbaugh M, Nickel K, Yu C, Leverenz J, Bird T. Can late-onset familial Alzheimer's disease be an autosomal dominant Mendelian disorder? Alzheimers & Dementia. 6. DOI: 10.1016/J.Jalz.2010.05.607 |
0.434 |
|
| 2009 |
Area-Gomez E, de Groof AJ, Boldogh I, Bird TD, Gibson GE, Koehler CM, Yu WH, Duff KE, Yaffe MP, Pon LA, Schon EA. Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. The American Journal of Pathology. 175: 1810-6. PMID 19834068 DOI: 10.2353/Ajpath.2009.090219 |
0.322 |
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| 2009 |
Sieh W, Choi Y, Chapman NH, Craig UK, Steinbart EJ, Rothstein JH, Oyanagi K, Garruto RM, Bird TD, Galasko DR, Schellenberg GD, Wijsman EM. Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Human Molecular Genetics. 18: 3725-38. PMID 19567404 DOI: 10.1093/Hmg/Ddp300 |
0.378 |
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| 2009 |
Sima AA, Pierson CR, Woltjer RL, Hobson GM, Golden JA, Kupsky WJ, Schauer GM, Bird TD, Skoff RP, Garbern JY. Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. Acta Neuropathologica. 118: 531-9. PMID 19562355 DOI: 10.1007/S00401-009-0562-8 |
0.33 |
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| 2009 |
Hannibal MC, Ruzzo EK, Miller LR, Betz B, Buchan JG, Knutzen DM, Barnett K, Landsverk ML, Brice A, LeGuern E, Bedford HM, Worrall BB, Lovitt S, Appel SH, Andermann E, ... Bird TD, et al. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology. 72: 1755-9. PMID 19451530 DOI: 10.1212/Wnl.0B013E3181A609E3 |
0.383 |
|
| 2009 |
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. American Journal of Human Genetics. 84: 692-7. PMID 19409521 DOI: 10.1016/J.Ajhg.2009.04.008 |
0.36 |
|
| 2009 |
Bird TD. Progranulin plasma levels in the diagnosis of frontotemporal dementia. Brain : a Journal of Neurology. 132: 568-9. PMID 19224898 DOI: 10.1093/Brain/Awp009 |
0.381 |
|
| 2009 |
Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, ... ... Bird TD, et al. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Human Molecular Genetics. 18: 1200-8. PMID 19139049 DOI: 10.1093/Hmg/Ddp014 |
0.419 |
|
| 2009 |
Bird TD. A new disease mimicking Refsum syndrome. Neurology. 72: 13. PMID 19005173 DOI: 10.1212/01.Wnl.0000334358.71615.Fd |
0.367 |
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| 2009 |
Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD. Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 570-4. PMID 18980218 DOI: 10.1002/Ajmg.B.30879 |
0.383 |
|
| 2009 |
Lipe H, Bird T. Late Onset Huntington Disease: Clinical and Genetic Characteristics of 34 Cases Journal of the Neurological Sciences. 276: 159-162. PMID 18977004 DOI: 10.1016/J.Jns.2008.09.029 |
0.348 |
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| 2009 |
Duerson K, Woltjer RL, Mookherjee P, Leverenz JB, Montine TJ, Bird TD, Pow DV, Rauen T, Cook DG. Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patients. Brain Pathology (Zurich, Switzerland). 19: 267-78. PMID 18624794 DOI: 10.1111/J.1750-3639.2008.00186.X |
0.309 |
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| 2009 |
Leverenz JB, Montine TJ, Steinbart EJ, Bird TD. O2-03-05: TDP-43 deposition in presenilin mutation-associated Alzheimer’s, sporadic Alzheimer’s, and non-demented elderly Alzheimer's & Dementia. 5: P108-P108. DOI: 10.1016/J.Jalz.2009.05.338 |
0.309 |
|
| 2009 |
Jayadev S, Steinbart EJ, Stahl J, Leverenz JB, Bird TD. Phenotypes and genotypes in presenilin 2 (PSEN2) mutations Alzheimers & Dementia. 5: 464. DOI: 10.1016/J.Jalz.2009.04.781 |
0.345 |
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| 2008 |
Cassidy MR, Roberts JS, Bird TD, Steinbart EJ, Cupples LA, Chen CA, Linnenbringer E, Green RC. Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 4: 406-13. PMID 19012865 DOI: 10.1016/J.Jalz.2008.04.007 |
0.395 |
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| 2008 |
Bennett CL, Lawson VH, Brickell KL, Isaacs K, Seltzer W, Lipe HP, Weiss MD, Carter GT, Flanigan KM, Chance PF, Bird TD. Late-onset hereditary axonal neuropathies. Neurology. 71: 14-20. PMID 18495953 DOI: 10.1212/01.Wnl.0000304048.94023.73 |
0.383 |
|
| 2008 |
Rowland LP, Bird TD. Silver syndrome: The complexity of complicated hereditary spastic paraplegia. Neurology. 70: 1948-9. PMID 18490616 DOI: 10.1212/01.Wnl.0000312519.62351.5B |
0.4 |
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| 2008 |
Bird TD. Genetic aspects of Alzheimer disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 231-9. PMID 18414205 DOI: 10.1097/Gim.0B013E31816B64Dc |
0.45 |
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| 2008 |
Bird TD, Lipe HP, Steinbart EJ. Geriatric neurogenetics: oxymoron or reality? Archives of Neurology. 65: 537-9. PMID 18413479 DOI: 10.1001/Archneur.65.4.537 |
0.38 |
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| 2008 |
Basun H, Bogdanovic N, Ingelsson M, Almkvist O, Näslund J, Axelman K, Bird TD, Nochlin D, Schellenberg GD, Wahlund LO, Lannfelt L. Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Archives of Neurology. 65: 499-505. PMID 18413473 DOI: 10.1001/Archneur.65.4.499 |
0.406 |
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| 2008 |
Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. The Lancet. Neurology. 7: 409-16. PMID 18396105 DOI: 10.1016/S1474-4422(08)70071-1 |
0.371 |
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| 2008 |
Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Archives of Neurology. 65: 379-82. PMID 18332251 DOI: 10.1001/Archneurol.2007.68 |
0.365 |
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| 2008 |
Jayadev S, Steinbart EJ, Chi YY, Kukull WA, Schellenberg GD, Bird TD. Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease. Archives of Neurology. 65: 373-8. PMID 18332250 DOI: 10.1001/Archneurol.2007.61 |
0.321 |
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| 2008 |
Hutter CM, Samii A, Factor SA, Nutt JG, Higgins DS, Bird TD, Griffith A, Roberts JW, Leis BC, Montimurro JS, Kay DM, Edwards KL, Payami H, Zabetian CP. Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 15: 134-9. PMID 18093156 DOI: 10.1111/J.1468-1331.2007.02012.X |
0.32 |
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| 2008 |
Bird TD, Kraft GH. Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk. Clinical Genetics. 14: 43-49. PMID 679521 DOI: 10.1111/J.1399-0004.1978.Tb02059.X |
0.368 |
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| 2008 |
Wijsman EM, Choi Y, Steinbart EJ, Bird TD, Schellenberg GD. P3-272: Genome scan for age-at-onset loci in the National Institutes of Mental Health Alzheimer's disease sample Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1840 |
0.308 |
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| 2007 |
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, ... ... Bird T, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. The Lancet. Neurology. 6: 857-68. PMID 17826340 DOI: 10.1016/S1474-4422(07)70221-1 |
0.39 |
|
| 2007 |
Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C, Kwong LK, Lee VM, Schellenberg GD, Bird TD. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain : a Journal of Neurology. 130: 1360-74. PMID 17439980 DOI: 10.1093/Brain/Awm069 |
0.453 |
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| 2007 |
Sieh W, Yu CE, Bird TD, Schellenberg GD, Wijsman EM. Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease. Human Heredity. 63: 26-34. PMID 17215579 DOI: 10.1159/000098459 |
0.3 |
|
| 2006 |
Jayadev S, Michelson S, Lipe H, Bird T. Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease). Journal of the Neurological Sciences. 250: 110-3. PMID 17027034 DOI: 10.1016/J.Jns.2006.08.006 |
0.388 |
|
| 2006 |
Kay DM, Bird TD, Zabetian CP, Factor SA, Samii A, Higgins DS, Nutt J, Roberts JW, Griffith A, Leis BC, Montimurro JS, Philpott S, Payami H. Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease. Genetic Testing. 10: 221-7. PMID 17020475 DOI: 10.1089/Gte.2006.10.221 |
0.343 |
|
| 2006 |
Brickell KL, Steinbart EJ, Rumbaugh M, Payami H, Schellenberg GD, Van Deerlin V, Yuan W, Bird TD. Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Archives of Neurology. 63: 1307-11. PMID 16966510 DOI: 10.1001/Archneur.63.9.1307 |
0.407 |
|
| 2006 |
Zabetian CP, Hutter CM, Yearout D, Lopez AN, Factor SA, Griffith A, Leis BC, Bird TD, Nutt JG, Higgins DS, Roberts JW, Kay DM, Edwards KL, Samii A, Payami H. LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. American Journal of Human Genetics. 79: 752-8. PMID 16960813 DOI: 10.1086/508025 |
0.368 |
|
| 2006 |
Tsuang DW, Riekse RG, Purganan KM, David AC, Montine TJ, Schellenberg GD, Steinbart EJ, Petrie EC, Bird TD, Leverenz JB. Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series. Journal of Alzheimer's Disease : Jad. 9: 235-42. PMID 16914833 DOI: 10.3233/Jad-2006-9302 |
0.421 |
|
| 2006 |
Leverenz JB, Fishel MA, Peskind ER, Montine TJ, Nochlin D, Steinbart E, Raskind MA, Schellenberg GD, Bird TD, Tsuang D. Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Archives of Neurology. 63: 370-6. PMID 16533963 DOI: 10.1001/Archneur.63.3.370 |
0.423 |
|
| 2006 |
Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathologica. 111: 300-11. PMID 16523341 DOI: 10.1007/S00401-006-0046-Z |
0.321 |
|
| 2006 |
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, ... Bird T, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/Ana.20797 |
0.366 |
|
| 2006 |
Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Archives of Neurology. 63: 112-7. PMID 16401743 DOI: 10.1001/Archneur.63.1.112 |
0.442 |
|
| 2006 |
Kay DM, Zabetian CP, Factor SA, Nutt JG, Samii A, Griffith A, Bird TD, Kramer P, Higgins DS, Payami H. Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 519-23. PMID 16250030 DOI: 10.1002/Mds.20751 |
0.37 |
|
| 2006 |
Condello C, Aoyagi A, Stöhr J, Lee JC, Rivera BM, Woerman AL, Halliday GM, van Duinen S, Ingelsson M, Lannfelt L, Graff C, Bird TD, Dirk Keene C, Seeley WW, DeGrado WF, et al. P4-233: AGED ALZHEIMER'S DISEASE BRAINS EXHIBIT NUMEROUS Aβ BUT ONLY FEW TAU PRIONS Alzheimer's & Dementia. 14: P1531-P1532. DOI: 10.1016/J.Jalz.2018.07.054 |
0.347 |
|
| 2005 |
Li X, Rowland LP, Mitsumoto H, Przedborski S, Bird TD, Schellenberg GD, Peskind E, Johnson N, Siddique T, Mesulam MM, Weintraub S, Mastrianni JA. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Annals of Neurology. 58: 858-64. PMID 16315279 DOI: 10.1002/Ana.20646 |
0.393 |
|
| 2005 |
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, ... ... Bird TD, et al. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nature Genetics. 37: 1044-6. PMID 16186812 DOI: 10.1038/Ng1649 |
0.425 |
|
| 2005 |
Boutté AM, Neely MD, Bird TD, Montine KS, Montine TJ. Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment. Journal of Alzheimer's Disease : Jad. 8: 1-6. PMID 16155344 DOI: 10.3233/Jad-2005-8101 |
0.411 |
|
| 2005 |
Woltjer RL, Cimino PJ, Boutté AM, Schantz AM, Montine KS, Larson EB, Bird T, Quinn JF, Zhang J, Montine TJ. Proteomic determination of widespread detergent-insolubility including Abeta but not tau early in the pathogenesis of Alzheimer's disease. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 19: 1923-5. PMID 16129700 DOI: 10.1096/Fj.05-4263Fje |
0.342 |
|
| 2005 |
Strand AD, Aragaki AK, Shaw D, Bird T, Holton J, Turner C, Tapscott SJ, Tabrizi SJ, Schapira AH, Kooperberg C, Olson JM. Gene expression in Huntington's disease skeletal muscle: a potential biomarker. Human Molecular Genetics. 14: 1863-76. PMID 15888475 DOI: 10.1093/Hmg/Ddi192 |
0.304 |
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| 2005 |
Hall DA, Leehey MA, Filley CM, Steinbart E, Montine T, Schellenberg GD, Bosque P, Nixon R, Bird T. PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. Neurology. 64: 1304-6. PMID 15824374 DOI: 10.1212/01.Wnl.0000156911.70131.06 |
0.433 |
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| 2005 |
Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, ... ... Bird TD, et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 64: 1258-60. PMID 15824357 DOI: 10.1212/01.Wnl.0000156801.64549.6B |
0.409 |
|
| 2005 |
Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Archives of Neurology. 62: 597-600. PMID 15824259 DOI: 10.1001/Archneur.62.4.597 |
0.425 |
|
| 2005 |
Bird TD. Genetic factors in Alzheimer's disease. The New England Journal of Medicine. 352: 862-4. PMID 15745976 DOI: 10.1056/Nejmp058027 |
0.369 |
|
| 2005 |
Ellegala DB, Monteith SJ, Haynor D, Bird TD, Goodkin R, Kliot M. Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. Journal of Neurosurgery. 102: 242-5. PMID 15739551 DOI: 10.3171/Jns.2005.102.2.0242 |
0.33 |
|
| 2005 |
Spacey SD, Materek LA, Szczygielski BI, Bird TD. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Archives of Neurology. 62: 314-6. PMID 15710862 DOI: 10.1001/Archneur.62.2.314 |
0.409 |
|
| 2005 |
Wijsman EM, Daw EW, Yu X, Steinbart EJ, Nochlin D, Bird TD, Schellenberg GD. APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 132: 14-20. PMID 15389756 DOI: 10.1002/Ajmg.B.30087 |
0.443 |
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| 2005 |
Poorkaj P, Nutt JG, James D, Gancher S, Bird TD, Steinbart E, Schellenberg GD, Payami H. Parkin mutation analysis in clinic patients with early‐onset Parkinson's disease (Am J Med Genet 129A: 44–50, 2004) American Journal of Medical Genetics Part A. 139: 56-56. DOI: 10.1002/Ajmg.A.30937 |
0.308 |
|
| 2004 |
Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, ... ... Bird T, et al. Huntington's Disease-like 2 (HDL2) in North America and Japan. Annals of Neurology. 56: 670-4. PMID 15468075 DOI: 10.1002/Ana.20248 |
0.428 |
|
| 2004 |
Ohtake H, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, ... Bird TD, et al. Beta-synuclein gene alterations in dementia with Lewy bodies. Neurology. 63: 805-11. PMID 15365127 DOI: 10.1212/01.Wnl.0000139870.14385.3C |
0.302 |
|
| 2004 |
Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Annals of Neurology. 56: 213-20. PMID 15293273 DOI: 10.1002/Ana.20169 |
0.308 |
|
| 2004 |
Poorkaj P, Nutt JG, James D, Gancher S, Bird TD, Steinbart E, Schellenberg GD, Payami H. parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. American Journal of Medical Genetics. Part A. 129: 44-50. PMID 15266615 DOI: 10.1002/Ajmg.A.30157 |
0.373 |
|
| 2004 |
Wijsman EM, Daw EW, Yu CE, Payami H, Steinbart EJ, Nochlin D, Conlon EM, Bird TD, Schellenberg GD. Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. American Journal of Human Genetics. 75: 398-409. PMID 15248153 DOI: 10.1086/423393 |
0.373 |
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| 2004 |
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, et al. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Movement Disorders : Official Journal of the Movement Disorder Society. 19: 622-9. PMID 15197699 DOI: 10.1002/Mds.20074 |
0.401 |
|
| 2004 |
Walker M, Samii A, Bird T. Coexistence of tuberous sclerosis and Friedreich ataxia Journal of the Neurological Sciences. 221: 91-93. PMID 15178220 DOI: 10.1016/J.Jns.2004.02.009 |
0.402 |
|
| 2004 |
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. American Journal of Human Genetics. 75: 3-16. PMID 15152344 DOI: 10.1086/422014 |
0.431 |
|
| 2004 |
Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, ... ... Bird TD, et al. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Annals of Neurology. 55: 713-20. PMID 15122712 DOI: 10.1002/Ana.20094 |
0.35 |
|
| 2004 |
Tsuang DW, DiGiacomo L, Bird TD. Familial occurrence of dementia with Lewy bodies. The American Journal of Geriatric Psychiatry : Official Journal of the American Association For Geriatric Psychiatry. 12: 179-88. PMID 15010347 DOI: 10.1097/00019442-200403000-00009 |
0.391 |
|
| 2004 |
Jin LW, Shie FS, Maezawa I, Vincent I, Bird T. Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. The American Journal of Pathology. 164: 975-85. PMID 14982851 DOI: 10.1016/S0002-9440(10)63185-9 |
0.31 |
|
| 2004 |
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 125: 79-82. PMID 14755449 DOI: 10.1002/Ajmg.B.20083 |
0.443 |
|
| 2004 |
McMillan PJ, Leverenz JB, Bird TD, Schellenberg GD, Craft S. P4-285 Insulin degrading enzyme immunostaining is decreased in the hippocampus of familial Alzheimer's disease subjects with presenilin 1 mutations Neurobiology of Aging. 25: S556. DOI: 10.1016/S0197-4580(04)81843-8 |
0.388 |
|
| 2004 |
Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, ... ... Bird T, et al. Erratum: Huntington's disease-like 2 (HDL2) in North America and Japan (Annals of Neurology (November 2004) 56 (670-674)) Annals of Neurology. 56. DOI: 10.1002/Ana.20349 |
0.325 |
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| 2003 |
Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Archives of Neurology. 60: 1749-51. PMID 14676051 DOI: 10.1001/Archneur.60.12.1749 |
0.431 |
|
| 2003 |
Furukawa K, Wang Y, Yao PJ, Fu W, Mattson MP, Itoyama Y, Onodera H, D'Souza I, Poorkaj PH, Bird TD, Schellenberg GD. Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation. Journal of Neurochemistry. 87: 427-36. PMID 14511120 DOI: 10.1046/J.1471-4159.2003.02020.X |
0.337 |
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| 2003 |
Bird T, Knopman D, VanSwieten J, Rosso S, Feldman H, Tanabe H, Graff-Raford N, Geschwind D, Verpillat P, Hutton M. Epidemiology and genetics of frontotemporal dementia/Pick's disease. Annals of Neurology. 54: S29-31. PMID 12833366 DOI: 10.1002/Ana.10572 |
0.382 |
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| 2003 |
Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 425-9. PMID 12671950 DOI: 10.1002/Mds.10375 |
0.434 |
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| 2003 |
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. American Journal of Human Genetics. 72: 839-49. PMID 12644968 DOI: 10.1086/373883 |
0.442 |
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| 2003 |
Bonner LT, Tsuang DW, Cherrier MM, Eugenio CJ, Du Jennifer Q, Steinbart EJ, Limprasert P, La Spada AR, Seltzer B, Bird TD, Leverenz JB. Familial dementia with Lewy bodies with an atypical clinical presentation. Journal of Geriatric Psychiatry and Neurology. 16: 59-64. PMID 12641375 DOI: 10.1177/0891988702250585 |
0.373 |
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| 2003 |
Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology. 60: 22-6. PMID 12525712 DOI: 10.1212/Wnl.60.1.22 |
0.377 |
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| 2002 |
Bird TD. Approaches to the patient with neurogenetic disease. Neurologic Clinics. 20: 619-26, v. PMID 12432823 DOI: 10.1016/S0733-8619(01)00015-9 |
0.37 |
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| 2002 |
Tsuang DW, Dalan AM, Eugenio CJ, Poorkaj P, Limprasert P, La Spada AR, Steinbart EJ, Bird TD, Leverenz JB. Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. Archives of Neurology. 59: 1622-30. PMID 12374501 DOI: 10.1001/Archneur.59.10.1622 |
0.419 |
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| 2002 |
Poorkaj P, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Annals of Neurology. 52: 511-6. PMID 12325083 DOI: 10.1002/Ana.10340 |
0.377 |
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| 2002 |
Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. American Journal of Human Genetics. 71: 838-53. PMID 12297985 DOI: 10.1086/342728 |
0.359 |
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| 2002 |
Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Neuromuscular Disorders : Nmd. 12: 643-50. PMID 12207932 DOI: 10.1016/S0960-8966(02)00021-4 |
0.401 |
|
| 2002 |
Tsuang DW, Bird TD. Genetics of dementia. The Medical Clinics of North America. 86: 591-614. PMID 12171060 DOI: 10.1016/S0025-7125(02)00003-2 |
0.397 |
|
| 2002 |
Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Archives of Neurology. 59: 1291-5. PMID 12164726 DOI: 10.1001/Archneur.59.8.1291 |
0.401 |
|
| 2002 |
Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. American Journal of Human Genetics. 71: 656-62. PMID 12080485 DOI: 10.1086/342259 |
0.364 |
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| 2002 |
Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. American Journal of Medical Genetics. 114: 450-7. PMID 11992570 DOI: 10.1002/Ajmg.10361 |
0.366 |
|
| 2002 |
Chen DH, Lipe HP, Qin Z, Bird TD. Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. Journal of the Neurological Sciences. 196: 91-6. PMID 11959162 DOI: 10.1016/S0022-510X(02)00031-X |
0.407 |
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| 2002 |
Zareparsi S, Camicioli R, Sexton G, Bird T, Swanson P, Kaye J, Nutt J, Payami H. Age at onset of Parkinson disease and apolipoprotein E genotypes. American Journal of Medical Genetics. 107: 156-161. PMID 11807891 DOI: 10.1002/Ajmg.10111 |
0.307 |
|
| 2002 |
Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. American Journal of Human Genetics. 70: 244-50. PMID 11713717 DOI: 10.1086/337943 |
0.424 |
|
| 2002 |
Bird TD. Familial dyskinesia and facial myokymia Movement Disorders. 17: 747-747. DOI: 10.1002/Mds.10213 |
0.316 |
|
| 2001 |
Jeannet PY, Watts GD, Bird TD, Chance PF. Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. Neurology. 57: 1963-8. PMID 11739810 DOI: 10.1212/Wnl.57.11.1963 |
0.361 |
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| 2001 |
Pinsky LE, Burke W, Bird TD. Why should primary care physicians know about the genetics of dementia? The Western Journal of Medicine. 175: 412-6. PMID 11733436 DOI: 10.1136/Ewjm.175.6.412 |
0.34 |
|
| 2001 |
Poorkaj P, Tsuang D, Wijsman E, Steinbart E, Garruto RM, Craig UK, Chapman NH, Anderson L, Bird TD, Plato CC, Perl DP, Weiderholt W, Galasko D, Schellenberg GD. TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. Archives of Neurology. 58: 1871-8. PMID 11708997 DOI: 10.1001/Archneur.58.11.1871 |
0.315 |
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| 2001 |
Steinbart EJ, Smith CO, Poorkaj P, Bird TD. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Archives of Neurology. 58: 1828-31. PMID 11708991 DOI: 10.1001/Archneur.58.11.1828 |
0.369 |
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| 2001 |
Cataldo A, Rebeck GW, Ghetri B, Hulette C, Lippa C, Van Broeckhoven C, van Duijn C, Cras P, Bogdanovic N, Bird T, Peterhoff C, Nixon R. Endocytic disturbances distinguish among subtypes of Alzheimer's disease and related disorders. Annals of Neurology. 50: 661-5. PMID 11706973 DOI: 10.1002/Ana.1254 |
0.424 |
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| 2001 |
Bird TD, Jarvik GP, Wood NW. Genetic association studies: genes in search of diseases. Neurology. 57: 1153-4. PMID 11591829 DOI: 10.1212/Wnl.57.7.1153 |
0.343 |
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| 2001 |
Matsumura R, Futamura N, La Spada AR, Bird TD. Late-onset SCA2: 33 CAG repeats are sufficient to cause disease [3] (multiple letters) Neurology. 57: 566. PMID 11502947 DOI: 10.1212/Wnl.57.3.566 |
0.336 |
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| 2001 |
Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T. Hereditary benign chorea: clinical and genetic features of a distinct disease. Neurology. 57: 106-10. PMID 11445636 DOI: 10.1212/Wnl.57.1.106 |
0.387 |
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| 2001 |
Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Annals of Neurology. 49: 486-92. PMID 11310626 DOI: 10.1002/Ana.98 |
0.376 |
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| 2001 |
Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Archives of Neurology. 58: 383-7. PMID 11255441 DOI: 10.1001/Archneur.58.3.383 |
0.441 |
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| 2000 |
Mathews PM, Cataldo AM, Kao BH, Rudnicki AG, Qin X, Yang JL, Jiang Y, Picciano M, Hulette C, Lippa CF, Bird TD, Nochlin D, Walter J, Haass C, Lévesque L, et al. Brain expression of presenilins in sporadic and early-onset, familial Alzheimer's disease. Molecular Medicine (Cambridge, Mass.). 6: 878-91. PMID 11126202 DOI: 10.1007/Bf03401825 |
0.451 |
|
| 2000 |
Tsuang D, Almqvist EW, Lipe H, Strgar F, DiGiacomo L, Hoff D, Eugenio C, Hayden MR, Bird TD. Familial aggregation of psychotic symptoms in Huntington's disease. The American Journal of Psychiatry. 157: 1955-9. PMID 11097960 DOI: 10.1176/Appi.Ajp.157.12.1955 |
0.418 |
|
| 2000 |
Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, Nee LE, St George-Hyslop P, Pollen DA, Drachman DA. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Annals of Neurology. 48: 376-9. PMID 10976645 DOI: 10.1002/1531-8249(200009)48:3<376::Aid-Ana13>3.0.Co;2-U |
0.445 |
|
| 2000 |
Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Human Molecular Genetics. 9: 2125-30. PMID 10958651 DOI: 10.1093/Hmg/9.14.2125 |
0.357 |
|
| 2000 |
Armstrong RA, Nochlin D, Bird TD. Neuropathological heterogeneity in Alzheimer's disease: a study of 80 cases using principal components analysis. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 20: 31-7. PMID 10935434 DOI: 10.1046/J.1440-1789.2000.00284.X |
0.369 |
|
| 2000 |
Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. European Journal of Human Genetics : Ejhg. 8: 449-54. PMID 10878666 DOI: 10.1038/Sj.Ejhg.5200480 |
0.359 |
|
| 2000 |
Bird TD. Sporadic cases of possible genetic diseases: to test or not to test? Archives of Neurology. 57: 309-10. PMID 10714653 DOI: 10.1001/Archneur.57.3.309 |
0.308 |
|
| 2000 |
Kertesz A, Kawarai T, Rogaeva E, St George-Hyslop P, Poorkaj P, Bird TD, Munoz DG. Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology. 54: 818-27. PMID 10690970 DOI: 10.1212/Wnl.54.4.818 |
0.457 |
|
| 2000 |
Furukawa K, D'Souza I, Crudder CH, Onodera H, Itoyama Y, Poorkaj P, Bird TD, Schellenberg GD. Pro-apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism. Neuroreport. 11: 57-60. PMID 10683829 DOI: 10.1097/00001756-200001170-00011 |
0.378 |
|
| 2000 |
Lippa CF, Schmidt ML, Nee LE, Bird T, Nochlin D, Hulette C, Mori H, Lee VM, Trojanowski JQ. AMY plaques in familial AD: comparison with sporadic Alzheimer's disease. Neurology. 54: 100-4. PMID 10636133 DOI: 10.1212/Wnl.54.1.100 |
0.389 |
|
| 2000 |
Daw EW, Payami H, Nemens EJ, Nochlin D, Bird TD, Schellenberg GD, Wijsman EM. The number of trait loci in late-onset Alzheimer disease. American Journal of Human Genetics. 66: 196-204. PMID 10631151 DOI: 10.1086/302710 |
0.369 |
|
| 2000 |
Bird TD. Clinical features of familial frontotemporal dementia Neurobiology of Aging. 21: 284. DOI: 10.1016/S0197-4580(00)83228-5 |
0.338 |
|
| 2000 |
Schellenberg GD, D'Souza I, Poorkaj P, Bird TD. Tau mutations and gene expression Neurobiology of Aging. 21: 284. DOI: 10.1016/S0197-4580(00)83227-3 |
0.341 |
|
| 2000 |
Fishel MA, Tsuang DW, Raskind MA, Nochlin D, Schellenberg G, Bird TD, Leverenz JB. Lewy body pathology in familial (presenilin-2) Alzheimer's disease Neurobiology of Aging. 21: 66. DOI: 10.1016/S0197-4580(00)82516-6 |
0.405 |
|
| 1999 |
Bird TD. Historical Perspective of Defining Charcot‐Marie‐Tooth Type 1B Annals of the New York Academy of Sciences. 883: 6-13. PMID 29086972 DOI: 10.1111/J.1749-6632.1999.Tb08561.X |
0.406 |
|
| 1999 |
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations. Annals of the New York Academy of Sciences. 883: 351-365. PMID 29086946 DOI: 10.1111/J.1749-6632.1999.Tb08597.X |
0.36 |
|
| 1999 |
Bird TD. Risks and benefits of DNA testing for neurogenetic disorders. Seminars in Neurology. 19: 253-9. PMID 12194381 DOI: 10.1055/S-2008-1040841 |
0.321 |
|
| 1999 |
Gómez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, Lopera F, Kosik KS, Lantos PL, Cairns NJ, Hyman BT. The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. Brain : a Journal of Neurology. 122: 1709-19. PMID 10468510 DOI: 10.1093/Brain/122.9.1709 |
0.453 |
|
| 1999 |
Lieberman AP, Trojanowski JQ, Leonard DG, Chen KL, Barnett JL, Leverenz JB, Bird TD, Robitaille Y, Malandrini A, Fischbeck KH. Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. Annals of Neurology. 46: 271-3. PMID 10443897 DOI: 10.1002/1531-8249(199908)46:2<271::Aid-Ana21>3.0.Co;2-M |
0.338 |
|
| 1999 |
D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM, Bird TD, Schellenberg GD. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proceedings of the National Academy of Sciences of the United States of America. 96: 5598-603. PMID 10318930 DOI: 10.1073/Pnas.96.10.5598 |
0.378 |
|
| 1999 |
Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, Peskind E, Lampe TH, Nemens E, Boyer PJ, Schellenberg GD. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) Brain : a Journal of Neurology. 122: 741-56. PMID 10219785 DOI: 10.1093/Brain/122.4.741 |
0.425 |
|
| 1999 |
Bird TD. Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. American Journal of Human Genetics. 64: 1289-92. PMID 10205259 DOI: 10.1086/302388 |
0.331 |
|
| 1999 |
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nature Genetics. 21: 379-84. PMID 10192387 DOI: 10.1038/7710 |
0.329 |
|
| 1999 |
Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird TD, Tanaka C, Schellenberg GD. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. Archives of Neurology. 56: 65-9. PMID 9923762 DOI: 10.1001/Archneur.56.1.65 |
0.46 |
|
| 1999 |
Dlouhy S, Feng Y, Young K, Bird T, DeCarli C, Hodes ME, Piccardo P, Ghetti B. AN INTRON MUTATION IN THE PRION PROTEIN GENE (PRNP) Journal of Neuropathology and Experimental Neurology. 58: 550. DOI: 10.1097/00005072-199905000-00176 |
0.329 |
|
| 1998 |
Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science (New York, N.Y.). 282: 1914-7. PMID 9836646 DOI: 10.1126/Science.282.5395.1914 |
0.428 |
|
| 1998 |
Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, St George-Hyslop P, Ghetti B, Nochlin D, Bird TD, Cairns NJ, Lee VM, et al. Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. The American Journal of Pathology. 153: 1365-70. PMID 9811326 DOI: 10.1016/S0002-9440(10)65722-7 |
0.334 |
|
| 1998 |
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, ... ... Bird T, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proceedings of the National Academy of Sciences of the United States of America. 95: 13103-7. PMID 9789048 DOI: 10.1073/Pnas.95.22.13103 |
0.427 |
|
| 1998 |
Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, et al. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. Journal of Neuropathology and Experimental Neurology. 57: 979-88. PMID 9786248 DOI: 10.1097/00005072-199810000-00010 |
0.372 |
|
| 1998 |
Benson KF, Horwitz M, Wolff J, Friend K, Thompson E, White S, Richards RI, Raskind WH, Bird TD. CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Human Molecular Genetics. 7: 1779-86. PMID 9736780 DOI: 10.1093/Hmg/7.11.1779 |
0.385 |
|
| 1998 |
Tsuang D, DiGiacomo L, Lipe H, Bird TD. Familial aggregation of schizophrenia-like symptoms in Huntington's disease. American Journal of Medical Genetics. 81: 323-7. PMID 9674979 DOI: 10.1002/(Sici)1096-8628(19980710)81:4<323::Aid-Ajmg9>3.0.Co;2-U |
0.328 |
|
| 1998 |
Bird TD. Genotypes, phenotypes, and frontotemporal dementia: take your pick. Neurology. 50: 1526-7. PMID 9633688 DOI: 10.1212/Wnl.50.6.1526 |
0.326 |
|
| 1998 |
Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Annals of Neurology. 43: 815-25. PMID 9629852 DOI: 10.1002/Ana.410430617 |
0.453 |
|
| 1998 |
Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G, Brice A, Bird TD, Schellenberg GD, Pericak-Vance MA, Welsh-Bohmer KA, Clark LN, Wilhelmsen K, Tsuji S. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics. 49: 321-6. PMID 9598323 DOI: 10.1006/Geno.1998.5266 |
0.314 |
|
| 1998 |
Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology. 50: 1015-20. PMID 9566388 DOI: 10.1212/Wnl.50.4.1015 |
0.38 |
|
| 1998 |
Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathology (Zurich, Switzerland). 8: 387-402. PMID 9546295 DOI: 10.1111/J.1750-3639.1998.Tb00162.X |
0.442 |
|
| 1998 |
Poorkaj P, Sharma V, Anderson L, Nemens E, Alonso ME, Orr H, White J, Heston L, Bird TD, Schellenberg GD. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Human Mutation. 11: 216-21. PMID 9521423 DOI: 10.1002/(Sici)1098-1004(1998)11:3<216::Aid-Humu6>3.0.Co;2-F |
0.429 |
|
| 1998 |
Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Litt M, Lipe H, Bird TD. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Human Genetics. 102: 93-7. PMID 9490305 DOI: 10.1007/S004390050659 |
0.359 |
|
| 1998 |
Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Human Molecular Genetics. 7: 525-32. PMID 9467013 DOI: 10.1093/Hmg/7.3.525 |
0.387 |
|
| 1998 |
Nochlin D, Bird TD, Nemens EJ, Ball MJ, Sumi SM. Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I). Annals of Neurology. 43: 131-5. PMID 9450781 DOI: 10.1002/Ana.410430124 |
0.475 |
|
| 1998 |
Koob MD, Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LP. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genetics. 18: 72-5. PMID 9425905 DOI: 10.1038/Ng0198-72 |
0.347 |
|
| 1998 |
-J. Lievens PM, Ouaglio E, Piccardo P, Tranchant C, Warter JM, Bird T, Bugiani O, Ghetti B, Tagliavini F. DISTINCTIVE PrP ISOFOMS IN GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE WITH TANGLES Journal of Neuropathology and Experimental Neurology. 57: 517. DOI: 10.1097/00005072-199805000-00212 |
0.335 |
|
| 1997 |
Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF. Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Human Genetics. 101: 277-83. PMID 9439655 DOI: 10.1007/S004390050629 |
0.303 |
|
| 1997 |
Zareparsi S, Kaye J, Camicioli R, Grimslid H, Oken B, Litt M, Nutt J, Bird T, Schellenberg G, Payami H. Modulation of the age at onset of Parkinson's disease by apolipoprotein E genotypes. Annals of Neurology. 42: 655-8. PMID 9382478 DOI: 10.1002/Ana.410420417 |
0.353 |
|
| 1997 |
Payami H, Schellenberg GD, Zareparsi S, Kaye J, Sexton GJ, Head MA, Matsuyama SS, Jarvik LF, Miller B, McManus DQ, Bird TD, Katzman R, Heston L, Norman D, Small GW. Evidence for association of HLA-A2 allele with onset age of Alzheimer's disease. Neurology. 49: 512-8. PMID 9270587 DOI: 10.1212/Wnl.49.2.512 |
0.306 |
|
| 1997 |
Garbern JY, Cambi F, Tang XM, Sima AA, Vallat JM, Bosch EP, Lewis R, Shy M, Sohi J, Kraft G, Chen KL, Joshi I, Leonard DG, Johnson W, Raskind W, ... ... Bird T, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron. 19: 205-18. PMID 9247276 DOI: 10.1016/S0896-6273(00)80360-8 |
0.325 |
|
| 1997 |
Klesert TR, Otten AD, Bird TD, Tapscott SJ. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genetics. 16: 402-6. PMID 9241282 DOI: 10.1038/Ng0897-402 |
0.337 |
|
| 1997 |
Levey AI, Heilman CJ, Lah JJ, Nash NR, Rees HD, Wakai M, Mirra SS, Rye DB, Nochlin D, Bird TD, Mufson EJ. Presenilin-1 protein expression in familial and sporadic Alzheimer's disease. Annals of Neurology. 41: 742-53. PMID 9189035 DOI: 10.1002/Ana.410410610 |
0.45 |
|
| 1997 |
Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study. Annals of Neurology. 41: 463-9. PMID 9124803 DOI: 10.1002/Ana.410410409 |
0.404 |
|
| 1997 |
Bird TD, Wijsman EM, Nochlin D, Leehey M, Sumi SM, Payami H, Poorkaj P, Nemens E, Rafkind M, Schellenberg GD. Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology. 48: 949-54. PMID 9109883 DOI: 10.1212/Wnl.48.4.949 |
0.441 |
|
| 1997 |
Post SG, Whitehouse PJ, Binstock RH, Bird TD, Eckert SK, Farrer LA, Fleck LM, Gaines AD, Juengst ET, Karlinsky H, Miles S, Murray TH, Quaid KA, Relkin NR, Roses AD, et al. The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. Jama. 277: 832-6. PMID 9052715 DOI: 10.1001/Jama.1997.03540340066035 |
0.412 |
|
| 1997 |
Raskind WH, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD. Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. American Journal of Medical Genetics. 74: 26-36. PMID 9034002 DOI: 10.1002/(Sici)1096-8628(19970221)74:1<26::Aid-Ajmg7>3.0.Co;2-T |
0.423 |
|
| 1997 |
Tsuang D, Raskind MA, Leverenz J, Peskind ER, Schellenberg G, Bird TD. The effect of apolipoprotein E genotype on expression of an autosomal dominant schizophreniform disorder with progressive dementia and neurofibrillary tangles. Biological Psychiatry. 41: 191-5. PMID 9018389 DOI: 10.1016/S0006-3223(96)00119-9 |
0.404 |
|
| 1997 |
Mann DM, Iwatsubo T, Nochlin D, Sumi SM, Levy-Lahad E, Bird TD. Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families. Annals of Neurology. 41: 52-7. PMID 9005865 DOI: 10.1002/Ana.410410110 |
0.392 |
|
| 1997 |
Gomez-Isla T, Nochlin D, Bird TD, Sumi SM, Hyman BT. PHENOTYPIC CHARACTERIZATION OF PSI AND PS2 RELATED ALZHEIMERʼS DISEASE Journal of Neuropathology and Experimental Neurology. 56: 572. DOI: 10.1097/00005072-199705000-00019 |
0.352 |
|
| 1996 |
Bird TD, Levy-Lahad E, Poorkaj P, Sharma V, Nemens E, Lahad A, Lampe TH, Schellenberg GD. Wide range in age of onset for chromosome 1--related familial Alzheimer's disease. Annals of Neurology. 40: 932-6. PMID 9007102 DOI: 10.1002/Ana.410400619 |
0.411 |
|
| 1996 |
Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, ... ... Bird TD, et al. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Annals of Neurology. 40: 912-7. PMID 9007097 DOI: 10.1002/Ana.410400614 |
0.465 |
|
| 1996 |
Levy-Lahad E, Bird TD. Genetic factors in Alzheimer's disease: a review of recent advances. Annals of Neurology. 40: 829-40. PMID 9007087 DOI: 10.1002/Ana.410400604 |
0.353 |
|
| 1996 |
Greenstein PE, Moore D, Levy-Lohad E, Stephens K, Bird TD. Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia. Neurology. 47: 1106-7. PMID 8857759 DOI: 10.1212/Wnl.47.4.1106-A |
0.396 |
|
| 1996 |
Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 46: 1128-32. PMID 8780104 DOI: 10.1212/Wnl.46.4.1128 |
0.332 |
|
| 1996 |
Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, Bird TD, Poorkaj P, Hardy J, Hutton M, Prihar G, Crook R, Rossor MN, Haltia M. Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). Annals of Neurology. 40: 149-56. PMID 8773595 DOI: 10.1002/Ana.410400205 |
0.34 |
|
| 1996 |
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 46: 1507-14. PMID 8649538 DOI: 10.1212/Wnl.46.6.1507 |
0.385 |
|
| 1996 |
Graf WD, Chance PF, Lensch MW, Eng LJ, Lipe HP, Bird TD. Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. Cancer. 77: 1356-62. PMID 8608515 DOI: 10.1002/(Sici)1097-0142(19960401)77:7<1356::Aid-Cncr20>3.0.Co;2-# |
0.388 |
|
| 1996 |
Schellenberg GD, Bird TD, Levy-Lahad E, Wijsman EM. 600 Genetic analysis of familial Alzheimer's disease Neurobiology of Aging. 17. DOI: 10.1016/S0197-4580(96)80602-6 |
0.43 |
|
| 1996 |
Younkin S, Scheuner D, Song X, Eckman C, Citron M, Suzuki N, Bird T, Hardy J, Hutton M, Lannfelt L, Levy-Lahad E, Peskind E, Poorkaj P, Schellenberg G, Tanzi R, et al. 149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (Aβ) ending at Aβ42(43) Neurobiology of Aging. 17. DOI: 10.1016/S0197-4580(96)80151-5 |
0.416 |
|
| 1995 |
Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. American Journal of Human Genetics. 57: 603-8. PMID 7668288 |
0.317 |
|
| 1995 |
Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, Weber JL, Bird TD, Schellenberg GD. A familial Alzheimer's disease locus on chromosome 1. Science (New York, N.Y.). 269: 970-3. PMID 7638621 DOI: 10.1126/Science.7638621 |
0.432 |
|
| 1995 |
Bird TD. Apolipoprotein E genotyping in the diagnosis of Alzheimer's disease: a cautionary view. Annals of Neurology. 38: 2-4. PMID 7611719 DOI: 10.1002/Ana.410380103 |
0.343 |
|
| 1995 |
Levy-Lahad E, Lahad A, Wijsman EM, Bird TD, Schellenberg GD. Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease. Annals of Neurology. 38: 678-80. PMID 7574468 DOI: 10.1002/Ana.410380420 |
0.421 |
|
| 1995 |
Tagliavini F, Prelli F, Porro M, Rossi G, Giaccnne G, Bird TD, Dlouhy SR, Young K, Piccardo P, Ghetti B, Bugiani O, Frangione B. ONLY MUTANT PRP PARTICIPATES IN AMYLOID FORMATION IN GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE WITH ALA>VAL SUBSTITUTION AT CODON 117 Journal of Neuropathology and Experimental Neurology. 54: 416. DOI: 10.1097/00005072-199505000-00037 |
0.318 |
|
| 1994 |
Hearn MG, Edland SD, Ogburn CE, Smith AC, Bird TD, Martin GM, Fukuchi K. Trypsin inhibitor activities of fibroblasts increase with age of donor and are unaltered in familial Alzheimer's disease. Experimental Gerontology. 29: 611-23. PMID 9435914 DOI: 10.1016/0531-5565(94)90074-4 |
0.327 |
|
| 1994 |
Payami H, Montee KR, Kaye JA, Bird TD, Yu CE, Wijsman EM, Schellenberg GD. Alzheimer's disease, apolipoprotein E4, and gender. Jama. 271: 1316-7. PMID 8158809 DOI: 10.1001/Jama.1994.03510410028015 |
0.353 |
|
| 1994 |
Lampe TH, Bird TD, Nochlin D, Nemens E, Risse SC, Sumi SM, Koerker R, Leaird B, Wier M, Raskind MA. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Annals of Neurology. 36: 368-78. PMID 8080245 DOI: 10.1002/Ana.410360308 |
0.454 |
|
| 1994 |
Bird TD. Familial Alzheimer's disease. Annals of Neurology. 36: 335-6. PMID 8080240 DOI: 10.1002/Ana.410360303 |
0.413 |
|
| 1994 |
Chance PF, Lensch MW, Lipe H, Brown RH, Brown RH, Bird TD. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology. 44: 2253-7. PMID 7991108 DOI: 10.1212/Wnl.44.12.2253 |
0.355 |
|
| 1994 |
Bird TD. Familial Alzheimer's disease and chromosome 14 Journal of the Neurological Sciences. 127: 2-3. DOI: 10.1016/0022-510X(94)90110-4 |
0.406 |
|
| 1993 |
Bennett RL, Bird TD, Teri L. Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications. Journal of Genetic Counseling. 2: 123-37. PMID 24242633 DOI: 10.1007/Bf00962073 |
0.31 |
|
| 1993 |
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72: 143-51. PMID 8422677 DOI: 10.1016/0092-8674(93)90058-X |
0.339 |
|
| 1993 |
Bird TD, Nemens EJ, Kukull WA. Conjugal Alzheimer's disease: is there an increased risk in offspring? Annals of Neurology. 34: 396-9. PMID 8363356 DOI: 10.1002/Ana.410340315 |
0.303 |
|
| 1993 |
Bird TD. Are linkage studies boring? Nature Genetics. 4: 213-4. PMID 8358425 DOI: 10.1038/Ng0793-213 |
0.301 |
|
| 1993 |
Wijsman EM, Bird TD, Martin GM, Schellenberg GD. The Seattle Alzheimer's disease data set. Genetic Epidemiology. 10: 365-9. PMID 8314028 DOI: 10.1002/Gepi.1370100606 |
0.404 |
|
| 1993 |
Payami H, Kaye J, Heston LL, Bird TD, Schellenberg GD. Apolipoprotein E genotype and Alzheimer's disease. Lancet. 342: 738. PMID 8103834 DOI: 10.1016/0140-6736(93)91728-5 |
0.345 |
|
| 1993 |
Grossmann A, Kukull WA, Jinneman JC, Bird TD, Villacres EC, Larson EB, Rabinovitch PS. Intracellular calcium response is reduced in CD4+ lymphocytes in Alzheimer's disease and in older persons with Down's syndrome. Neurobiology of Aging. 14: 177-85. PMID 8098135 DOI: 10.1016/0197-4580(93)90094-R |
0.301 |
|
| 1992 |
Sumi SM, Bird TD, Nochlin D, Raskind MA. Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology. 42: 120-7. PMID 1734292 DOI: 10.1212/Wnl.42.1.120 |
0.424 |
|
| 1992 |
Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science (New York, N.Y.). 258: 668-71. PMID 1411576 DOI: 10.1126/Science.1411576 |
0.419 |
|
| 1992 |
Chance PF, Matsunami N, Lensch W, Smith B, Bird TD. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology. 42: 2037-41. PMID 1407588 DOI: 10.1212/Wnl.42.10.2037 |
0.305 |
|
| 1992 |
Schellenberg GD, Boehnke M, Wijsman EM, Moore DK, Martin GM, Bird TD. Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease. Annals of Neurology. 31: 223-7. PMID 1349467 DOI: 10.1002/Ana.410310214 |
0.442 |
|
| 1992 |
McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH, Gusella JF. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita Cell. 68: 769-774. PMID 1310898 DOI: 10.1016/0092-8674(92)90151-2 |
0.33 |
|
| 1992 |
Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genetics. 1: 176-9. PMID 1303231 DOI: 10.1038/Ng0692-176 |
0.308 |
|
| 1991 |
Lebo RV, Chance PF, Dyck PJ, Redila-Flores MT, Lynch ED, Golbus MS, Bird TD, King MC, Anderson LA, Hall J. Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. Human Genetics. 88: 1-12. PMID 1683643 DOI: 10.1007/Bf00204921 |
0.333 |
|
| 1991 |
Hsiao KK, Cass C, Schellenberg GD, Bird T, Devine-Gage E, Wisniewski H, Prusiner SB. A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome. Neurology. 41: 681-4. PMID 1674116 DOI: 10.1212/Wnl.41.5.681 |
0.425 |
|
| 1990 |
Eto K, Sumi SM, Bird TD, McEvoy-Bush T, Boehnke M, Schellenberg G. Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family? Archives of Neurology. 47: 968-74. PMID 2396938 DOI: 10.1001/Archneur.1990.00530090038011 |
0.412 |
|
| 1990 |
Martin GM, Schellenberg GD, Wijsman EM, Bird TD. Alzheimer's disease. Dominant susceptibility genes. Nature. 347: 124. PMID 2395467 DOI: 10.1038/347124A0 |
0.379 |
|
| 1990 |
Farrer LA, Myers RH, Cupples LA, St George-Hyslop PH, Bird TD, Rossor MN, Mullan MJ, Polinsky R, Nee L, Heston L. Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity. Neurology. 40: 395-403. PMID 2314579 DOI: 10.1097/00002093-199100510-00015 |
0.393 |
|
| 1990 |
Risse SC, Lampe TH, Bird TD, Nochlin D, Sumi SM, Keenan T, Cubberley L, Peskind E, Raskind MA. Myoclonus, seizures, and paratonia in Alzheimer disease. Alzheimer Disease and Associated Disorders. 4: 217-25. PMID 2264979 DOI: 10.1097/00002093-199040400-00003 |
0.323 |
|
| 1989 |
Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, Sadovnick A, Chui H, Miner GW, Tinklenberg J. Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Annals of Neurology. 25: 12-25. PMID 2913924 DOI: 10.1002/Ana.410250104 |
0.421 |
|
| 1989 |
Bird TD, Schellenberg GD, Wijsman EM, Martin GM. Evidence for etiologic heterogeneity in Alzheimer's disease. Neurobiology of Aging. 10: 432-4; discussion 44. PMID 2812202 DOI: 10.1016/0197-4580(89)90085-7 |
0.395 |
|
| 1989 |
Bird TD. Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurologic Clinics. 7: 9-23. PMID 2646524 DOI: 10.1016/S0733-8619(18)30825-9 |
0.368 |
|
| 1989 |
Bird TD, Lampe TH, Nemens EJ, Sumi SM, Nochlin D, Schellenberg GD, Wijsman EM. Characteristics of familial Alzheimer's disease in nine kindreds of Volga German ancestry. Progress in Clinical and Biological Research. 317: 229-34. PMID 2602419 DOI: 10.1097/00002093-198802030-00135 |
0.446 |
|
| 1989 |
Schellenberg GD, Bird TD, Wijsman EM, Moore DK, Martin GM. The genetics of Alzheimer's disease. Biomedicine & Pharmacotherapy = Biomã©Decine & Pharmacothã©Rapie. 43: 463-8. PMID 2531010 DOI: 10.1016/0753-3322(89)90106-6 |
0.422 |
|
| 1989 |
Nochlin D, Sumi SM, Bird TD, Snow AD, Leventhal CM, Beyreuther K, Masters CL. Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome. Neurology. 39: 910-8. PMID 2500619 DOI: 10.1212/Wnl.39.7.910 |
0.419 |
|
| 1988 |
Schellenberg GD, Bird TD, Wijsman EM, Moore DK, Boehnke M, Bryant EM, Lampe TH, Nochlin D, Sumi SM, Deeb SS. Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. Science (New York, N.Y.). 241: 1507-10. PMID 3420406 DOI: 10.1126/Science.3420406 |
0.434 |
|
| 1988 |
Bird TD, Lampe TH, Nemens EJ, Miner GW, Sumi SM, Schellenberg GD. Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect. Annals of Neurology. 23: 25-31. PMID 3345066 DOI: 10.1002/Ana.410230106 |
0.428 |
|
| 1988 |
SNOW AD, NOCHLIN D, SUMI SM, BIRD TD, WIGHT TN. IMMUNOLOCALIZATION OF HEPARAN SULFATE PROTEOSLYCANS TO ???PRIMITIVE PLAQUES??? AND MULTI-CORE PRION POSITIVE PLAQUES IN FAMILIAL DEMENTIA Alzheimer Disease & Associated Disorders. 2: 232. DOI: 10.1097/00002093-198802030-00081 |
0.345 |
|
| 1987 |
Bird TD, Boehnke M, Anderson J, Lampe TH, Schellenberg G, Larson EB. The frequency of C4B variants of complement in familial and sporadic Alzheimer disease. Alzheimer Disease and Associated Disorders. 1: 251-5. PMID 3502596 DOI: 10.1097/00002093-198701040-00004 |
0.371 |
|
| 1987 |
Chance PF, Murray JC, Bird TD, Kochin RS. Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers. Neurology. 37: 325-9. PMID 3468376 DOI: 10.1212/Wnl.37.2.325 |
0.369 |
|
| 1987 |
Schellenberg GD, Deeb SS, Boehnke M, Bryant EM, Martin GM, Lampe TH, Bird TD. Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. Journal of Neurogenetics. 4: 97-108. PMID 2885403 DOI: 10.3109/01677068709102337 |
0.394 |
|
| 1987 |
Bird TD, Boehnke M, Schellenberg GD, Deeb SS, Lipe HP. The use of apolipoprotein CII as a genetic marker for myotonic dystrophy. Archives of Neurology. 44: 273-5. PMID 2881531 DOI: 10.1001/Archneur.1987.00520150029015 |
0.333 |
|
| 1987 |
Eto K, Sumi SM, Bird TD, McEvoy-Bush T. AUTOSOMAL DOMINANT PREDOMINANTLY SPINOPONTINE ATROPHY OR MACHADO-JOSEPH DISEASE IN ANOTHER NON-PORTUGESE FAMILY. (Three autopsies from two generations.): 27 Journal of Neuropathology and Experimental Neurology. 46: 341. DOI: 10.1097/00005072-198705000-00034 |
0.41 |
|
| 1986 |
Bird TD. Problems and limitations in studying a genetic component of Alzheimer's disease Neurobiology of Aging. 7: 477-478. DOI: 10.1016/0197-4580(86)90078-3 |
0.42 |
|
| 1985 |
Murray JC, Johnson JA, Bird TD. Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clinical Genetics. 28: 272-83. PMID 4064366 DOI: 10.1111/J.1399-0004.1985.Tb00401.X |
0.359 |
|
| 1985 |
Pagon RA, Bird TD, Detter JC, Pierce I. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. Journal of Medical Genetics. 22: 267-73. PMID 4045952 DOI: 10.1136/Jmg.22.4.267 |
0.385 |
|
| 1984 |
Nutt JG, Bird TD. Essential myoclonus in a kindred with familial malignant melanoma. Archives of Neurology. 41: 189-91. PMID 6691823 DOI: 10.1001/Archneur.1984.04050140087032 |
0.351 |
|
| 1984 |
Bird TD, Reenan AM, Pfeifer M. Autonomic nervous system function in genetic neuromuscular disorders. Hereditary motor-sensory neuropathy and myotonic dystrophy. Archives of Neurology. 41: 43-6. PMID 6689887 DOI: 10.1001/Archneur.1984.04050130049021 |
0.338 |
|
| 1983 |
Bird TD, Koerker RM, Leaird BJ, Vlcek BW, Thorning DR. Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology. 33: 81-6. PMID 6681564 DOI: 10.1212/Wnl.33.1.81 |
0.384 |
|
| 1983 |
Bird TD, Ott J, Giblett ER, Chance PF, Sumi SM, Kraft GH. Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Annals of Neurology. 14: 679-84. PMID 6651251 DOI: 10.1002/Ana.410140612 |
0.369 |
|
| 1983 |
Bird TD, Stranahan S, Sumi SM, Raskind M. Alzheimer's disease: choline acetyltransferase activity in brain tissue from clinical and pathological subgroups. Annals of Neurology. 14: 284-93. PMID 6227276 DOI: 10.1002/Ana.410140306 |
0.389 |
|
| 1982 |
Longstreth WT, Daven JR, Farrell DF, Bolen JW, Bird TD. Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease. Neurology. 32: 1295-9. PMID 6890167 DOI: 10.1212/Wnl.32.11.1295 |
0.325 |
|
| 1981 |
Bird TD, Griep E. Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. Archives of Neurology. 38: 739-41. PMID 7316837 DOI: 10.1001/Archneur.1981.00510120039003 |
0.332 |
|
| 1981 |
Bird TD, Crill WE. Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations. Annals of Neurology. 9: 243-50. PMID 7224589 DOI: 10.1002/Ana.410090307 |
0.312 |
|
| 1981 |
Jennings MT, Bird TD. Genetic influences in the epilepsies. Review of the literature with practical implications. American Journal of Diseases of Children (1960). 135: 450-7. PMID 6786088 DOI: 10.1001/Archpedi.1981.02130290048017 |
0.314 |
|
| 1981 |
Bird TD. Myotonic dystrophy associated with Down syndrome (trisomy 21). Neurology. 31: 440-2. PMID 6452587 DOI: 10.1212/Wnl.31.4.440 |
0.304 |
|
| 1978 |
Bird TD, Cederbaum S, Valpey RW, Stahl WL. Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. Annals of Neurology. 3: 253-258. PMID 666266 DOI: 10.1002/Ana.410030312 |
0.359 |
|
| 1978 |
Bird TD, Shaw CM. Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. Journal of Neurology, Neurosurgery, and Psychiatry. 41: 140-9. PMID 632821 DOI: 10.1136/Jnnp.41.2.140 |
0.323 |
|
| 1978 |
Bird TD, Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Annals of Neurology. 4: 537-540. PMID 217299 DOI: 10.1002/Ana.410040610 |
0.397 |
|
| 1978 |
Schuffler MD, Bird TD, Sumi SM, Cook A. A familial neuronal disease presenting as intestinal pseudoobstruction Gastroenterology. 75: 889-898. DOI: 10.1016/0016-5085(78)90476-6 |
0.309 |
|
| 1977 |
Bird TD, Hall JG. Clinical neurogenetics. A survey of the relationship of medical genetics to clinical neurology. Neurology. 27: 1057-1057. PMID 144871 DOI: 10.1212/Wnl.27.11.1057 |
0.31 |
|
| 1976 |
Bird TD, Carlson CB, Hall JG. Familial essential ('benign') chorea Journal of Medical Genetics. 13: 357-362. PMID 1003446 DOI: 10.1136/Jmg.13.5.357 |
0.392 |
|
| 1975 |
Bird TD. Apparent Familial Multiple Sclerosis in Three Generations: Report of a Family With Histocompatibility Antigen Typing Jama Neurology. 32: 414-416. PMID 1131074 DOI: 10.1001/Archneur.1975.00490480080009 |
0.348 |
|
| 1975 |
Bird TD, Omenn GS. Monozygotic twins with Huntington's disease in a family expressing the rigid variant Neurology. 25: 1126-1126. PMID 127951 DOI: 10.1212/Wnl.25.12.1126 |
0.413 |
|
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