| Year |
Citation |
Score |
| 2021 |
Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, ... ... Ranum LP, et al. CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. Embo Molecular Medicine. e14095. PMID 34632710 DOI: 10.15252/emmm.202114095 |
0.333 |
|
| 2018 |
Ayhan F, Perez BA, Shorrock HK, Zu T, Banez-Coronel M, Reid T, Furuya H, Clark HB, Troncoso JC, Ross CA, Subramony SH, Ashizawa T, Wang ET, Yachnis AT, Ranum LP. SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. The Embo Journal. PMID 30206144 DOI: 10.15252/Embj.201899023 |
0.469 |
|
| 2018 |
Chen G, Carter RE, Cleary JD, Reid TS, Ranum LP, Swanson MS, Ebner TJ. Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy. Neurobiology of Disease. PMID 29331264 DOI: 10.1016/J.Nbd.2018.01.003 |
0.385 |
|
| 2017 |
Cleary JD, Ranum LP. New developments in RAN translation: insights from multiple diseases. Current Opinion in Genetics & Development. 44: 125-134. PMID 28365506 DOI: 10.1016/J.Gde.2017.03.006 |
0.51 |
|
| 2016 |
Liu Y, Pattamatta A, Zu T, Reid T, Bardhi O, Borchelt DR, Yachnis AT, Ranum LP. C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD. Neuron. PMID 27112499 DOI: 10.1016/J.Neuron.2016.04.005 |
0.372 |
|
| 2015 |
Bañez-Coronel M, Ayhan F, Tarabochia AD, Zu T, Perez BA, Tusi SK, Pletnikova O, Borchelt DR, Ross CA, Margolis RL, Yachnis AT, Troncoso JC, Ranum LP. RAN Translation in Huntington Disease. Neuron. 88: 667-77. PMID 26590344 DOI: 10.1016/J.Neuron.2015.10.038 |
0.487 |
|
| 2015 |
Goodwin M, Mohan A, Batra R, Lee KY, Charizanis K, Gómez FJ, Eddarkaoui S, Sergeant N, Buée L, Kimura T, Clark HB, Dalton J, Takamura K, Weyn-Vanhentenryck SM, Zhang C, ... ... Ranum LP, et al. MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain. Cell Reports. PMID 26257173 DOI: 10.1016/J.Celrep.2015.07.029 |
0.403 |
|
| 2015 |
Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T. Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. Stem Cells (Dayton, Ohio). 33: 1829-38. PMID 25702800 DOI: 10.1002/Stem.1970 |
0.349 |
|
| 2014 |
Cleary JD, Ranum LP. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Current Opinion in Genetics & Development. 26: 6-15. PMID 24852074 DOI: 10.1016/j.gde.2014.03.002 |
0.444 |
|
| 2013 |
Lee KY, Li M, Manchanda M, Batra R, Charizanis K, Mohan A, Warren SA, Chamberlain CM, Finn D, Hong H, Ashraf H, Kasahara H, Ranum LP, Swanson MS. Compound loss of muscleblind-like function in myotonic dystrophy. Embo Molecular Medicine. 5: 1887-900. PMID 24293317 DOI: 10.1002/Emmm.201303275 |
0.678 |
|
| 2013 |
Zu T, Liu Y, Bañez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proceedings of the National Academy of Sciences of the United States of America. 110: E4968-77. PMID 24248382 DOI: 10.1073/Pnas.1315438110 |
0.449 |
|
| 2013 |
Cleary JD, Ranum LP. Repeat-associated non-ATG (RAN) translation in neurological disease. Human Molecular Genetics. 22: R45-51. PMID 23918658 DOI: 10.1093/hmg/ddt371 |
0.487 |
|
| 2013 |
Clippinger AK, D'Alton S, Lin WL, Gendron TF, Howard J, Borchelt DR, Cannon A, Carlomagno Y, Chakrabarty P, Cook C, Golde TE, Levites Y, Ranum L, Schultheis PJ, Xu G, et al. Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy. Acta Neuropathologica. 126: 39-50. PMID 23666556 DOI: 10.1007/S00401-013-1123-8 |
0.371 |
|
| 2012 |
Chamberlain CM, Ranum LP. Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Human Molecular Genetics. 21: 4645-54. PMID 22846424 DOI: 10.1093/Hmg/Dds306 |
0.673 |
|
| 2011 |
Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, ... ... Ranum LP, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proceedings of the National Academy of Sciences of the United States of America. 108: 260-5. PMID 21173221 DOI: 10.1073/Pnas.1013343108 |
0.483 |
|
| 2010 |
Ranum LP, Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner T, Swanson MS. Double the trouble: bidirectional expression of the SCA8 CAG/CTG expansion mutation - evidence for RNA and protein gain of function effects. Rinshō Shinkeigaku = Clinical Neurology. 50: 982-3. PMID 21921535 DOI: JST.JSTAGE/clinicalneurol/50.982 |
0.386 |
|
| 2009 |
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP. RNA gain-of-function in spinocerebellar ataxia type 8. Plos Genetics. 5: e1000600. PMID 19680539 DOI: 10.1371/journal.pgen.1000600 |
0.476 |
|
| 2008 |
Slean MM, Panigrahi GB, Ranum LP, Pearson CE. Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability. Dna Repair. 7: 1135-54. PMID 18485833 DOI: 10.1016/J.Dnarep.2008.03.014 |
0.391 |
|
| 2008 |
Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum (London, England). 7: 150-8. PMID 18418692 DOI: 10.1007/s12311-008-0010-7 |
0.429 |
|
| 2006 |
Dick KA, Margolis JM, Day JW, Ranum LP. Dominant non-coding repeat expansions in human disease. Genome Dynamics. 1: 67-83. PMID 18724054 DOI: 10.1159/000092501 |
0.442 |
|
| 2006 |
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nature Genetics. 38: 758-69. PMID 16804541 DOI: 10.1038/Ng1827 |
0.47 |
|
| 2006 |
Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annual Review of Neuroscience. 29: 259-77. PMID 16776586 DOI: 10.1146/Annurev.Neuro.29.051605.113014 |
0.461 |
|
| 2006 |
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Human Molecular Genetics. 15: 1808-15. PMID 16624843 DOI: 10.1093/Hmg/Ddl103 |
0.507 |
|
| 2005 |
Day JW, Ranum LP. Genetics and molecular pathogenesis of the myotonic dystrophies. Current Neurology and Neuroscience Reports. 5: 55-9. PMID 15676109 DOI: 10.1007/S11910-005-0024-1 |
0.487 |
|
| 2005 |
Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscular Disorders : Nmd. 15: 5-16. PMID 15639115 DOI: 10.1016/J.Nmd.2004.09.012 |
0.409 |
|
| 2004 |
Ranum LP, Day JW. Pathogenic RNA repeats: an expanding role in genetic disease. Trends in Genetics : Tig. 20: 506-12. PMID 15363905 DOI: 10.1016/J.Tig.2004.08.004 |
0.442 |
|
| 2004 |
Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW. Insulin receptor splicing alteration in myotonic dystrophy type 2. American Journal of Human Genetics. 74: 1309-13. PMID 15114529 DOI: 10.1086/421528 |
0.409 |
|
| 2004 |
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. American Journal of Human Genetics. 74: 793-804. PMID 15065017 DOI: 10.1086/383590 |
0.481 |
|
| 2003 |
Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 13: 589-96. PMID 12921797 DOI: 10.1016/S0960-8966(03)00092-0 |
0.428 |
|
| 2002 |
Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Current Neurology and Neuroscience Reports. 2: 465-70. PMID 12169228 DOI: 10.1007/S11910-002-0074-6 |
0.441 |
|
| 2002 |
Ranum LP, Day JW. Dominantly inherited, non-coding microsatellite expansion disorders. Current Opinion in Genetics & Development. 12: 266-71. PMID 12076668 DOI: 10.1016/S0959-437X(02)00297-6 |
0.47 |
|
| 2001 |
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (New York, N.Y.). 293: 864-7. PMID 11486088 DOI: 10.1126/Science.1062125 |
0.383 |
|
| 2001 |
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, ... ... Ranum L, et al. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. American Journal of Human Genetics. 68: 523-8. PMID 11133357 DOI: 10.1086/318184 |
0.311 |
|
| 2000 |
Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Human Molecular Genetics. 9: 1543-51. PMID 10888605 DOI: 10.1093/Hmg/9.10.1543 |
0.411 |
|
| 1999 |
Kaytor MD, Duvick LA, Skinner PJ, Koob MD, Ranum LP, Orr HT. Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Human Molecular Genetics. 8: 1657-64. PMID 10441328 DOI: 10.1093/Hmg/8.9.1657 |
0.364 |
|
| 1998 |
Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nature Genetics. 19: 196-8. PMID 9620781 DOI: 10.1038/570 |
0.324 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2000 |
Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum LP, Pulst SM, Rouleau GA. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Human Molecular Genetics. 9: 1753-8. PMID 10915763 DOI: 10.1093/Hmg/9.12.1753 |
0.296 |
|
| 2002 |
Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 58: 983-4. PMID 11914424 DOI: 10.1212/Wnl.58.6.983 |
0.294 |
|
| 2003 |
Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. American Journal of Human Genetics. 73: 849-62. PMID 14505273 DOI: 10.1086/378720 |
0.277 |
|
| 1997 |
Gaspar C, Goto J, Lopes-Cender I, Hayes S, Arvidsson K, Maciel P, Silveira I, Coutinho P, Stevanin G, DeStefano A, Riess O, Sasaki H, Giunti P, Wood N, Brunt E, ... ... Ranum L, et al. 5-29-03 Founder effect study in a large group of Machado-Joseph disease families with different ethnic origins Journal of the Neurological Sciences. 150: S314. DOI: 10.1016/S0022-510X(97)86433-7 |
0.268 |
|
| 2004 |
Dere R, Napierala M, Ranum LP, Wells RD. Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2. The Journal of Biological Chemistry. 279: 41715-26. PMID 15292165 DOI: 10.1074/Jbc.M406415200 |
0.266 |
|
| 2017 |
Grima JC, Daigle JG, Arbez N, Cunningham KC, Zhang K, Ochaba J, Geater C, Morozko E, Stocksdale J, Glatzer JC, Pham JT, Ahmed I, Peng Q, Wadhwa H, Pletnikova O, ... ... Ranum LP, et al. Mutant Huntingtin Disrupts the Nuclear Pore Complex. Neuron. 94: 93-107.e6. PMID 28384479 DOI: 10.1016/J.Neuron.2017.03.023 |
0.264 |
|
| 2003 |
Mosemiller AK, Dalton JC, Day JW, Ranum LP. Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenetic and Genome Research. 100: 175-83. PMID 14526178 DOI: 10.1159/000072852 |
0.263 |
|
| 2003 |
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 60: 657-64. PMID 12601109 DOI: 10.1212/01.Wnl.0000054481.84978.F9 |
0.263 |
|
| 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 |
0.263 |
|
| 2014 |
Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, Kangas T, Zink AN, Öz G, Ebner TJ, Ranum LP. Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 9891-904. PMID 25057192 DOI: 10.1523/Jneurosci.0876-14.2014 |
0.262 |
|
| 1999 |
Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscular Disorders : Nmd. 9: 19-27. PMID 10063831 DOI: 10.1016/S0960-8966(98)00094-7 |
0.26 |
|
| 2012 |
Ashizawa T, Ranum LP. GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36. Neurology. 79: 302-3. PMID 22744663 DOI: 10.1212/Wnl.0B013E31826043D9 |
0.26 |
|
| 2010 |
Lorenzo DN, Li MG, Mische SE, Armbrust KR, Ranum LP, Hays TS. Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila. The Journal of Cell Biology. 189: 143-58. PMID 20368622 DOI: 10.1083/Jcb.200905158 |
0.255 |
|
| 2000 |
Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 55: 649-57. PMID 10980728 DOI: 10.1212/Wnl.55.5.649 |
0.252 |
|
| 2008 |
Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics. 9: 61-3. PMID 18057971 DOI: 10.1007/S10048-007-0110-4 |
0.247 |
|
| 2014 |
Bugiardini E, Meola G, Alvarez C, Angeard N, Bassez G, Day JW, Dent G, Ekström AB, Eymard B, Fossati B, Gagnon C, Gomes-Pereira M, Gourdon G, Heatwole C, Housman DE, ... ... Ranum L, et al. Consensus on cerebral involvement in myotonic dystrophy. Workshop report: May 24-27, 2013, Ferrere (AT), Italy Neuromuscular Disorders. 24: 445-452. PMID 24613228 DOI: 10.1016/J.Nmd.2014.01.013 |
0.246 |
|
| 1993 |
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 4: 221-6. PMID 8358429 DOI: 10.1038/Ng0793-221 |
0.241 |
|
| 1999 |
Ohshima K, Sakamoto N, Labuda M, Poirier J, Moseley ML, Montermini L, Ranum LP, Wells RD, Pandolfo M. A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis. Neurology. 53: 1854-7. PMID 10563639 DOI: 10.1212/Wnl.53.8.1854 |
0.236 |
|
| 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 |
0.236 |
|
| 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 |
0.228 |
|
| 2012 |
Dick KA, Ikeda Y, Day JW, Ranum LP. Spinocerebellar ataxia type 5. Handbook of Clinical Neurology. 103: 451-9. PMID 21827906 DOI: 10.1016/B978-0-444-51892-7.00028-0 |
0.226 |
|
| 2004 |
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 63: 1647-55. PMID 15534250 DOI: 10.1212/01.WNL.0000143383.91137.00 |
0.222 |
|
| 2006 |
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, ... Ranum LP, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genetics. 38: 184-90. PMID 16429157 DOI: 10.1038/Ng1728 |
0.217 |
|
| 1993 |
Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genetics. 5: 254-8. PMID 8275090 DOI: 10.1038/Ng1193-254 |
0.216 |
|
| 2007 |
Lorenzo DN, Forrest SM, Ikeda Y, Dick KA, Ranum LP, Knight MA. Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. Neurology. 67: 2084-5. PMID 17159129 DOI: 10.1212/01.Wnl.0000247662.05197.59 |
0.209 |
|
| 1989 |
Fernández E, Schnell R, Ranum LP, Hussey SC, Silflow CD, Lefebvre PA. Isolation and characterization of the nitrate reductase structural gene of Chlamydomonas reinhardtii. Proceedings of the National Academy of Sciences of the United States of America. 86: 6449-53. PMID 2475871 DOI: 10.1073/Pnas.86.17.6449 |
0.207 |
|
| 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, 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 |
0.202 |
|
| 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 |
0.196 |
|
| 2007 |
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, ... ... Ranum LP, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology. 64: 1502-8. PMID 17923634 DOI: 10.1001/Archneur.64.10.1502 |
0.194 |
|
| 2006 |
Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Journal of Medical Genetics. 43: 527-30. PMID 16236810 DOI: 10.1136/Jmg.2005.035667 |
0.189 |
|
| 2009 |
Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP. SNP haplotype mapping in a small ALS family. Plos One. 4: e5687. PMID 19479031 DOI: 10.1371/Journal.Pone.0005687 |
0.184 |
|
| 2014 |
Pletnikova O, Sloane KL, Renton AE, Traynor BJ, Crain BJ, Reid T, Zu T, Ranum LP, Troncoso JC, Rabins PV, Onyike CU. Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of Aging. 35: 2419.e17-21. PMID 24819148 DOI: 10.1016/J.Neurobiolaging.2014.04.009 |
0.183 |
|
| 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 |
0.182 |
|
| 1998 |
Maurer DJ, Benzow KA, Schut LJ, Ranum LP, Livingston DM. Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients. Human Mutation. S74-7. PMID 9452047 DOI: 10.1002/Humu.1380110126 |
0.176 |
|
| 1994 |
Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genetics. 8: 280-4. PMID 7874171 DOI: 10.1038/Ng1194-280 |
0.161 |
|
| 2011 |
Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. European Journal of Human Genetics : Ejhg. 19: 567-70. PMID 21224892 DOI: 10.1038/ejhg.2010.233 |
0.135 |
|
| 1993 |
Banfi S, Chung MY, Kwiatkowski TJ, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics. 18: 627-35. PMID 8307572 DOI: 10.1016/S0888-7543(05)80365-9 |
0.135 |
|
| 2010 |
La Spada A, Ranum LP. Molecular genetic advances in neurological disease: special review issue. Human Molecular Genetics. 19: R1-3. PMID 20484169 DOI: 10.1093/hmg/ddq193 |
0.133 |
|
| 2010 |
Ranum LP, Krueger KA, Schut LJ. Abraham lincoln may have had sca type 5. Neurology. 74: 1836-7; author reply. PMID 20513822 DOI: 10.1212/01.wnl.0000380855.61880.4f |
0.128 |
|
| 1992 |
Ranum LP, Rich SS, Nance MA, Duvick LA, Aita JF, Orr HT, Anton-Johnson S, Schut LJ. Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology. 42: 344-7. PMID 1736163 DOI: 10.1212/Wnl.42.2.344 |
0.123 |
|
| 2012 |
Ikeda Y, Ranum LP, Day JW. Clinical and genetic features of spinocerebellar ataxia type 8. Handbook of Clinical Neurology. 103: 493-505. PMID 21827909 DOI: 10.1016/B978-0-444-51892-7.00031-0 |
0.116 |
|
| 1998 |
Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, Ranum LP. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology. 51: 1666-71. PMID 9855520 DOI: 10.1212/Wnl.51.6.1666 |
0.115 |
|
| 2005 |
Schoser BG, Ricker K, Schneider-Gold C, Hengstenberg C, Dürre J, Bültmann B, Kress W, Day JW, Ranum LP. Sudden cardiac death in myotonic dystrophy type 2. Neurology. 63: 2402-4. PMID 15623712 DOI: 10.1212/01.Wnl.0000147335.10783.E4 |
0.114 |
|
| 2012 |
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Archives of Neurology. 69: 1154-8. PMID 22637429 DOI: 10.1001/Archneurol.2012.1219 |
0.096 |
|
| 1988 |
Gross CH, Ranum LP, Lefebvre PA. Extensive restriction fragment length polymorphisms in a new isolate of Chlamydomonas reinhardtii. Current Genetics. 13: 503-8. PMID 2900078 DOI: 10.1007/BF02427756 |
0.075 |
|
| 2003 |
Ranum LP. Repeat analysis pooled isolation and detection (RAPID) cloning of microsatellite expansions. Methods in Molecular Biology (Clifton, N.J.). 217: 61-71. PMID 12491921 |
0.059 |
|
| 2004 |
Ranum LP, Schoser BG, Day JW, Toyka KV. Kenneth Ricker, MD (1935–2004) Neurology. 63: 966-967. DOI: 10.1212/01.Wnl.0000141020.89009.Ab |
0.057 |
|
| 1991 |
Ranum LP, Chung MY, Duvick LA, Zoghbi HY, Orr HT. Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Research. 19: 1171. PMID 2020562 DOI: 10.1093/Nar/19.5.1171-A |
0.057 |
|
| 2000 |
Moseley ML, Schut LJ, Bird TD, Day JW, Ranum LP. Reply- Nature Genetics. 24: 215. PMID 10700169 DOI: 10.1038/73415 |
0.01 |
|
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