| Year |
Citation |
Score |
| 2021 |
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, ... ... Fischbeck KH, et al. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Science Advances. 7. PMID 34417184 DOI: 10.1126/sciadv.abi6896 |
0.579 |
|
| 2021 |
McCormack NM, Abera MB, Arnold ES, Gibbs RM, Martin SE, Buehler E, Chen YC, Chen L, Fischbeck KH, Burnett BG. A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein. Cell Reports. 35: 109125. PMID 33979606 DOI: 10.1016/j.celrep.2021.109125 |
0.716 |
|
| 2020 |
Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1085-1091. PMID 32934110 DOI: 10.1136/jnnp-2020-322949 |
0.428 |
|
| 2020 |
Grunseich C, Fischbeck KH. Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment. Current Opinion in Neurology. 33: 629-634. PMID 32773451 DOI: 10.1097/WCO.0000000000000856 |
0.373 |
|
| 2020 |
Pourshafie N, Masati E, Bunker E, Nickolls AR, Thepmankorn P, Johnson K, Feng X, Ekins T, Grunseich C, Fischbeck KH. Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons. Jci Insight. 5. PMID 32641584 DOI: 10.1172/Jci.Insight.136539 |
0.365 |
|
| 2020 |
Winkelsas AM, Fischbeck KH. Nucleic acid therapeutics in neurodevelopmental disease. Current Opinion in Genetics & Development. 65: 112-116. PMID 32623324 DOI: 10.1016/j.gde.2020.05.022 |
0.351 |
|
| 2020 |
Poletti A, Fischbeck KH. Combinatorial treatment for spinal muscular atrophy: An Editorial for 'Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells' on doi: 10.1111/jnc.14935. Journal of Neurochemistry. PMID 32056234 DOI: 10.1111/jnc.14974 |
0.399 |
|
| 2019 |
Yalcouyé A, Diallo SH, Coulibaly T, Cissé L, Diallo S, Samassékou O, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck K, Landouré G. A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease. Molecular Genetics & Genomic Medicine. e782. PMID 31173493 DOI: 10.1002/mgg3.782 |
0.349 |
|
| 2019 |
Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO. Hereditary spastic paraplegia type 35 in a family from Mali. American Journal of Medical Genetics. Part A. PMID 31087769 DOI: 10.1002/ajmg.a.61179 |
0.377 |
|
| 2019 |
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, ... ... Fischbeck KH, et al. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics. PMID 30982609 DOI: 10.1016/J.Ajhg.2019.03.004 |
0.36 |
|
| 2018 |
Grunseich C, Miller R, Swan T, Glass DJ, Mouelhi ME, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, ... ... Fischbeck KH, et al. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial. The Lancet. Neurology. PMID 30337273 DOI: 10.1016/S1474-4422(18)30320-X |
0.329 |
|
| 2018 |
Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Fischbeck KH, Rinaldi C. Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents. Journal of Visualized Experiments : Jove. PMID 30148479 DOI: 10.3791/55724 |
0.347 |
|
| 2018 |
Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C. Nucleocytoplasmic transport defect in a North American patient with ALS8. Annals of Clinical and Translational Neurology. 5: 369-375. PMID 29560381 DOI: 10.1002/acn3.515 |
0.419 |
|
| 2018 |
Arnold ES, Fischbeck KH. Spinal muscular atrophy. Handbook of Clinical Neurology. 148: 591-601. PMID 29478602 DOI: 10.1016/B978-0-444-64076-5.00038-7 |
0.406 |
|
| 2017 |
Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C. Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. Neurology. PMID 29142082 DOI: 10.1212/Wnl.0000000000004748 |
0.304 |
|
| 2017 |
Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G. A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. Annals of Clinical and Translational Neurology. 4: 272-275. PMID 28382308 DOI: 10.1002/Acn3.402 |
0.334 |
|
| 2016 |
Sangare M, Dicko I, Guinto CO, Sissoko A, Dembele K, Coulibaly Y, Coulibaly SY, Landoure G, Diallo A, Dolo M, Dolo H, Maiga B, Traore M, Karembe M, Traore K, ... ... Fischbeck KH, et al. Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians? Eneurologicalsci. 3: 17-20. PMID 29430530 DOI: 10.1016/J.Ensci.2015.12.001 |
0.711 |
|
| 2016 |
Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, ... ... Fischbeck KH, et al. Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy. Science Translational Medicine. 8: 370ra181. PMID 28003546 DOI: 10.1126/scitranslmed.aaf9526 |
0.701 |
|
| 2016 |
Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan JJ, et al. ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice. Jci Insight. 1: e88427. PMID 27882347 DOI: 10.1172/Jci.Insight.88427 |
0.742 |
|
| 2016 |
Lanman TA, Bakar D, Badders NM, Burke A, Kokkinis A, Shrader JA, Joe GO, Schindler AB, Bott LC, Harmison GG, Taylor JP, Fischbeck KH, Grunseich C. Sexual Reassignment Fails to Prevent Kennedy's Disease. Journal of Neuromuscular Diseases. 3: 121-125. PMID 27854206 DOI: 10.3233/Jnd-150128 |
0.447 |
|
| 2016 |
Bott LC, Salomons FA, Maric D, Liu Y, Merry D, Fischbeck KH, Dantuma NP. The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex. Scientific Reports. 6: 27703. PMID 27312068 DOI: 10.1038/Srep27703 |
0.382 |
|
| 2016 |
Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH. Genetics and genomic medicine in Mali: challenges and future perspectives. Molecular Genetics & Genomic Medicine. 4: 126-134. PMID 27066513 DOI: 10.1002/Mgg3.212 |
0.649 |
|
| 2016 |
Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M, Sobue G, Taylor JP, Dantuma NP, Fischbeck KH, Rinaldi C. A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. Human Molecular Genetics. PMID 26962150 DOI: 10.1093/Hmg/Ddw073 |
0.481 |
|
| 2016 |
Foran E, Kwon DY, Nofziger JH, Arnold ES, Hall MD, Fischbeck KH, Burnett BG. CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: Implications for spinal muscular atrophy. Neurobiology of Disease. PMID 26792401 DOI: 10.1016/J.Nbd.2016.01.008 |
0.709 |
|
| 2016 |
Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Katsuno M, Sobue G, Burnett BG, Fischbeck KH, Rinaldi C. MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 26755334 DOI: 10.1038/Mt.2016.13 |
0.711 |
|
| 2015 |
Belikov S, Bott LC, Fischbeck KH, Wrange Ö. The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity. Biochemistry and Biophysics Reports. 3: 134-139. PMID 29124176 DOI: 10.1016/j.bbrep.2015.07.014 |
0.311 |
|
| 2015 |
Fischbeck KH. Spinal and Bulbar Muscular Atrophy Overview. Journal of Molecular Neuroscience : Mn. PMID 26547319 DOI: 10.1007/s12031-015-0674-7 |
0.451 |
|
| 2015 |
Grunseich C, Fischbeck KH. Spinal and Bulbar Muscular Atrophy. Neurologic Clinics. 33: 847-54. PMID 26515625 DOI: 10.1016/j.ncl.2015.07.002 |
0.402 |
|
| 2015 |
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, ... ... Fischbeck KH, et al. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. Jama Neurology. 72: 561-70. PMID 25751282 DOI: 10.1001/Jamaneurol.2014.4769 |
0.323 |
|
| 2015 |
Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH. Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. Journal of Neurology. 262: 1066-8. PMID 25736553 DOI: 10.1007/s00415-015-7683-x |
0.405 |
|
| 2014 |
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, et al. Proceedings of the fourth international conference on central hypoventilation. Orphanet Journal of Rare Diseases. 9: 194. PMID 25928806 DOI: 10.1186/S13023-014-0194-5 |
0.316 |
|
| 2014 |
Grunseich C, Kats IR, Bott LC, Rinaldi C, Kokkinis A, Fox D, Chen KL, Schindler AB, Mankodi AK, Shrader JA, Schwartz DP, Lehky TJ, Liu CY, Fischbeck KH. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. Neuromuscular Disorders : Nmd. 24: 978-81. PMID 25047668 DOI: 10.1016/j.nmd.2014.06.441 |
0.415 |
|
| 2014 |
Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, ... ... Fischbeck KH, et al. Research capacity. Enabling the genomic revolution in Africa. Science (New York, N.Y.). 344: 1346-8. PMID 24948725 DOI: 10.1126/Science.1251546 |
0.616 |
|
| 2014 |
Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen KL, Chen G, Boehm M, Fischbeck KH. Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients. Neurobiology of Disease. 70: 12-20. PMID 24925468 DOI: 10.1016/j.nbd.2014.05.038 |
0.39 |
|
| 2014 |
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/J.Nbd.2014.04.020 |
0.382 |
|
| 2014 |
Lynch DR, Fischbeck KH. Nicotinamide in Friedreich's ataxia: useful or not? Lancet. 384: 474-5. PMID 24794818 DOI: 10.1016/S0140-6736(14)60573-0 |
0.351 |
|
| 2014 |
Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Human Molecular Genetics. 23: 4745-57. PMID 24760765 DOI: 10.1093/Hmg/Ddu189 |
0.722 |
|
| 2014 |
Rinaldi C, Bott LC, Fischbeck KH. Muscle matters in Kennedy's disease. Neuron. 82: 251-3. PMID 24742452 DOI: 10.1016/j.neuron.2014.04.005 |
0.354 |
|
| 2014 |
Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. The Journal of Biological Chemistry. 289: 13615-26. PMID 24668811 DOI: 10.1074/jbc.M114.550418 |
0.323 |
|
| 2014 |
Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, ... ... Fischbeck KH, et al. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Annals of Neurology. 75: 525-32. PMID 24515897 DOI: 10.1002/Ana.24114 |
0.721 |
|
| 2014 |
Grunseich C, Rinaldi C, Fischbeck KH. Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Diseases. 20: 6-9. PMID 23656576 DOI: 10.1111/odi.12121 |
0.413 |
|
| 2013 |
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, ... ... Fischbeck KH, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation. 34: 1357-60. PMID 23857908 DOI: 10.1002/Humu.22378 |
0.696 |
|
| 2013 |
Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL, Rutkove SB, Shaw PJ, Shefner J, Fischbeck KH. Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 19-32. PMID 23678877 DOI: 10.3109/21678421.2013.778554 |
0.34 |
|
| 2013 |
Kwon DY, Dimitriadi M, Terzic B, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG. The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein. Molecular Biology of the Cell. 24: 1863-71. PMID 23615451 DOI: 10.1091/Mbc.E13-01-0042 |
0.732 |
|
| 2013 |
Fischbeck KH. A role for androgen reduction treatment in Kennedy disease? Muscle & Nerve. 47: 789. PMID 23408598 DOI: 10.1002/mus.23814 |
0.345 |
|
| 2013 |
Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. Journal of Neurology. 260: 324-6. PMID 23142947 DOI: 10.1007/s00415-012-6738-5 |
0.368 |
|
| 2013 |
Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/Humu.22210 |
0.379 |
|
| 2013 |
Lin X, Ruiz J, Bajraktari I, Banerjee S, Gribble K, Griggs R, Fischbeck K, Mankodi A. P.15.4 ZASP–sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by disassembling α-actinin cross-linked skeletal actin filaments Neuromuscular Disorders. 23: 819. DOI: 10.1016/J.Nmd.2013.06.629 |
0.341 |
|
| 2013 |
Lin X, Brubaker L, Bajraktari I, Ohman R, Griggs R, Fischbeck K, Mankodi A. P.15.3 Effects of ZASP mutations on Z-disc proteins associated with myofibrillar myopathy in skeletal muscle Neuromuscular Disorders. 23: 819. DOI: 10.1016/J.Nmd.2013.06.628 |
0.391 |
|
| 2012 |
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. American Journal of Human Genetics. 91: 1095-102. PMID 23217327 DOI: 10.1016/J.Ajhg.2012.10.008 |
0.703 |
|
| 2012 |
Rinaldi C, Bott LC, Chen KL, Harmison GG, Katsuno M, Sobue G, Pennuto M, Fischbeck KH. Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy. Molecular Medicine (Cambridge, Mass.). 18: 1261-8. PMID 22952056 DOI: 10.2119/molmed.2012.00271 |
0.432 |
|
| 2012 |
Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human Molecular Genetics. 21: 4448-59. PMID 22798624 DOI: 10.1093/Hmg/Dds286 |
0.736 |
|
| 2012 |
Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahloun A, Rinaldi C, Vincent A, Willcox N, ... ... Fischbeck KH, et al. A candidate gene for autoimmune myasthenia gravis. Neurology. 79: 342-7. PMID 22744667 DOI: 10.1212/Wnl.0B013E318260Cbd0 |
0.703 |
|
| 2012 |
Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology. 79: 192-4. PMID 22675077 DOI: 10.1212/Wnl.0B013E31825F04B2 |
0.685 |
|
| 2012 |
Fischbeck KH. Developing treatment for spinal and bulbar muscular atrophy. Progress in Neurobiology. 99: 257-61. PMID 22668795 DOI: 10.1016/j.pneurobio.2012.05.012 |
0.368 |
|
| 2012 |
Bricceno KV, Fischbeck KH, Burnett BG. Neurogenic and myogenic contributions to hereditary motor neuron disease. Neuro-Degenerative Diseases. 9: 199-209. PMID 22327341 DOI: 10.1159/000335311 |
0.731 |
|
| 2011 |
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. Plos Genetics. 7: e1002399. PMID 22144914 DOI: 10.1371/Journal.Pgen.1002399 |
0.376 |
|
| 2011 |
Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, et al. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology. 77: 540-8. PMID 21753178 DOI: 10.1212/Wnl.0B013E318228Fc70 |
0.373 |
|
| 2011 |
Kwon DY, Motley WW, Fischbeck KH, Burnett BG. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Human Molecular Genetics. 20: 3667-77. PMID 21693563 DOI: 10.1093/Hmg/Ddr288 |
0.731 |
|
| 2011 |
Fischbeck KH, Pulst SM. Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology. 76: 2050-1. PMID 21562249 DOI: 10.1212/Wnl.0B013E31821F4498 |
0.331 |
|
| 2011 |
Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH. Clinical and genetic analysis of spinocerebellar ataxia in Mali. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 18: 1269-71. PMID 21418439 DOI: 10.1111/J.1468-1331.2011.03376.X |
0.331 |
|
| 2010 |
Ranganathan S, Fischbeck KH. Therapeutic approaches to spinal and bulbar muscular atrophy. Trends in Pharmacological Sciences. 31: 523-7. PMID 20863580 DOI: 10.1016/j.tips.2010.08.005 |
0.427 |
|
| 2010 |
Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Fischbeck KH, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/Brain/Awq109 |
0.388 |
|
| 2010 |
Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M. B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. Journal of Neuroscience Research. 88: 2207-16. PMID 20336775 DOI: 10.1002/Jnr.22389 |
0.794 |
|
| 2010 |
Motley WW, Talbot K, Fischbeck KH. GARS axonopathy: not every neuron's cup of tRNA. Trends in Neurosciences. 33: 59-66. PMID 20152552 DOI: 10.1016/J.Tins.2009.11.001 |
0.371 |
|
| 2010 |
Haugen AC, Di Prospero NA, Parker JS, Fannin RD, Chou J, Meyer JN, Halweg C, Collins JB, Durr A, Fischbeck K, Van Houten B. Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology. Plos Genetics. 6: e1000812. PMID 20090835 DOI: 10.1371/Journal.Pgen.1000812 |
0.342 |
|
| 2010 |
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, ... ... Fischbeck KH, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics. 42: 170-4. PMID 20037586 DOI: 10.1038/Ng.512 |
0.72 |
|
| 2009 |
Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain : a Journal of Neurology. 132: 3242-51. PMID 19846582 DOI: 10.1093/brain/awp258 |
0.396 |
|
| 2009 |
Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M. Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron. 63: 316-28. PMID 19679072 DOI: 10.1016/J.Neuron.2009.07.019 |
0.445 |
|
| 2009 |
Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics. 10: 319-23. PMID 19322595 DOI: 10.1007/S10048-009-0190-4 |
0.369 |
|
| 2009 |
Young JE, Garden GA, Martinez RA, Tanaka F, Sandoval CM, Smith AC, Sopher BL, Lin A, Fischbeck KH, Ellerby LM, Morrison RS, Taylor JP, La Spada AR. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 1987-97. PMID 19228953 DOI: 10.1523/Jneurosci.4072-08.2009 |
0.637 |
|
| 2009 |
Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Molecular and Cellular Biology. 29: 1107-15. PMID 19103745 DOI: 10.1128/Mcb.01262-08 |
0.723 |
|
| 2009 |
Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Human Molecular Genetics. 18: 27-42. PMID 18824496 DOI: 10.1093/Hmg/Ddn310 |
0.712 |
|
| 2008 |
Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA. Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiology of Disease. 30: 365-74. PMID 18417352 DOI: 10.1016/J.Nbd.2008.02.007 |
0.716 |
|
| 2008 |
Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. American Journal of Human Genetics. 82: 652-60. PMID 18304497 DOI: 10.1016/J.Ajhg.2007.12.012 |
0.324 |
|
| 2007 |
Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Archives of Neurology. 64: 803-8. PMID 17562928 DOI: 10.1001/Archneur.64.6.803 |
0.315 |
|
| 2007 |
Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M. Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Human Molecular Genetics. 16: 1593-603. PMID 17470458 DOI: 10.1093/Hmg/Ddm109 |
0.762 |
|
| 2007 |
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of Clinical Investigation. 117: 659-71. PMID 17318264 DOI: 10.1172/Jci29562 |
0.746 |
|
| 2007 |
Sumner CJ, Fischbeck KH. 44 – Spinal Muscular Atrophy Neurobiology of Disease. 501-511. DOI: 10.1016/B978-012088592-3/50046-3 |
0.435 |
|
| 2006 |
Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 10397-406. PMID 17035524 DOI: 10.1523/Jneurosci.1671-06.2006 |
0.371 |
|
| 2006 |
Jeng LJ, Balice-Gordon RJ, Messing A, Fischbeck KH, Scherer SS. The effects of a dominant connexin32 mutant in myelinating Schwann cells. Molecular and Cellular Neurosciences. 32: 283-98. PMID 16790356 DOI: 10.1016/J.Mcn.2006.05.001 |
0.358 |
|
| 2006 |
Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. The Journal of Cell Biology. 172: 733-45. PMID 16505168 DOI: 10.1083/Jcb.200511068 |
0.395 |
|
| 2006 |
Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology. 66: 1067-73. PMID 16481599 DOI: 10.1212/01.Wnl.0000201929.56928.13 |
0.325 |
|
| 2006 |
Kolb SJ, Gubitz AK, Olszewski RF, Ottinger E, Sumner CJ, Fischbeck KH, Dreyfuss G. A novel cell immunoassay to measure survival of motor neurons protein in blood cells. Bmc Neurology. 6: 6. PMID 16451734 DOI: 10.1186/1471-2377-6-6 |
0.392 |
|
| 2005 |
Di Prospero NA, Fischbeck KH. Therapeutics development for triplet repeat expansion diseases. Nature Reviews. Genetics. 6: 756-65. PMID 16205715 DOI: 10.1038/nrg1690 |
0.399 |
|
| 2005 |
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain : a Journal of Neurology. 128: 2304-14. PMID 16014653 DOI: 10.1093/Brain/Awh590 |
0.397 |
|
| 2005 |
Puls I, Oh SJ, Sumner CJ, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Annals of Neurology. 57: 687-94. PMID 15852399 DOI: 10.1002/Ana.20468 |
0.41 |
|
| 2005 |
Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH. Severe neuropathy with leaky connexin32 hemichannels. Annals of Neurology. 57: 749-54. PMID 15852376 DOI: 10.1002/Ana.20459 |
0.399 |
|
| 2005 |
Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ. The role of histone acetylation in SMN gene expression. Human Molecular Genetics. 14: 1171-82. PMID 15772088 DOI: 10.1093/hmg/ddi130 |
0.319 |
|
| 2005 |
Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 1550-9. PMID 15703409 DOI: 10.1523/Jneurosci.3082-04.2005 |
0.337 |
|
| 2005 |
Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain : a Journal of Neurology. 128: 436-42. PMID 15618281 DOI: 10.1093/brain/awh378 |
0.357 |
|
| 2004 |
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, ... Fischbeck KH, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). American Journal of Human Genetics. 74: 1128-35. PMID 15106121 DOI: 10.1086/421054 |
0.355 |
|
| 2004 |
Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, ... ... Fischbeck K, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proceedings of the National Academy of Sciences of the United States of America. 101: 3498-503. PMID 14993615 DOI: 10.1073/Pnas.0308679101 |
0.306 |
|
| 2004 |
Markowitz JA, Tinkle MB, Fischbeck KH. Spinal muscular atrophy in the neonate. Journal of Obstetric, Gynecologic, and Neonatal Nursing : Jognn / Naacog. 33: 12-20. PMID 14971549 DOI: 10.1177/0884217503261125 |
0.361 |
|
| 2004 |
Piccioni F, Roman BR, Fischbeck KH, Taylor JP. A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Human Molecular Genetics. 13: 437-46. PMID 14709594 DOI: 10.1093/Hmg/Ddh045 |
0.362 |
|
| 2003 |
Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Annals of Neurology. 54: 647-54. PMID 14595654 DOI: 10.1002/Ana.10743 |
0.481 |
|
| 2003 |
Taylor JP, Taye AA, Campbell C, Kazemi-Esfarjani P, Fischbeck KH, Min KT. Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes & Development. 17: 1463-8. PMID 12815067 DOI: 10.1101/Gad.1087503 |
0.71 |
|
| 2003 |
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, ... Fischbeck KH, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics. 72: 1293-9. PMID 12690580 DOI: 10.1086/375039 |
0.407 |
|
| 2003 |
Taylor JP, Tanaka F, Robitschek J, Sandoval CM, Taye A, Markovic-Plese S, Fischbeck KH. Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein. Human Molecular Genetics. 12: 749-57. PMID 12651870 DOI: 10.1093/Hmg/Ddg074 |
0.439 |
|
| 2003 |
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nature Genetics. 33: 455-6. PMID 12627231 DOI: 10.1038/Ng1123 |
0.378 |
|
| 2002 |
Sumner CJ, Fischbeck KH. Jaw drop in Kennedy's disease. Neurology. 59: 1471-2. PMID 12427914 DOI: 10.1212/01.WNL.0000033325.01878.13 |
0.427 |
|
| 2002 |
Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Annals of Neurology. 52: 429-34. PMID 12325071 DOI: 10.1002/Ana.10305 |
0.537 |
|
| 2002 |
Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH. Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Human Molecular Genetics. 11: 1967-76. PMID 12165558 DOI: 10.1093/Hmg/11.17.1967 |
0.605 |
|
| 2002 |
Taylor JP, Fischbeck KH. Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention? Trends in Molecular Medicine. 8: 195-7. PMID 12067622 DOI: 10.1016/S1471-4914(02)02332-8 |
0.417 |
|
| 2002 |
Taylor JP, Hardy J, Fischbeck KH. Toxic proteins in neurodegenerative disease. Science (New York, N.Y.). 296: 1991-5. PMID 12065827 DOI: 10.1126/Science.1067122 |
0.467 |
|
| 2001 |
McCampbell A, Taye AA, Whitty L, Penney E, Steffan JS, Fischbeck KH. Histone deacetylase inhibitors reduce polyglutamine toxicity. Proceedings of the National Academy of Sciences of the United States of America. 98: 15179-84. PMID 11742087 DOI: 10.1073/Pnas.261400698 |
0.726 |
|
| 2001 |
Fischbeck KH. Polyglutamine expansion neurodegenerative disease. Brain Research Bulletin. 56: 161-3. PMID 11719245 DOI: 10.1016/S0361-9230(01)00577-9 |
0.421 |
|
| 2001 |
Puls I, Lieberman AP, Fischbeck KH. Impact of the human genome sequence on neurology and neuroscience. Archives of Neurology. 58: 1750-1. PMID 11708978 DOI: 10.1001/Archneur.58.11.1750 |
0.514 |
|
| 2001 |
Wagner KR, Hamed S, Hadley DW, Gropman AL, Burstein AH, Escolar DM, Hoffman EP, Fischbeck KH. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Annals of Neurology. 49: 706-11. PMID 11409421 DOI: 10.1002/ana.1023 |
0.356 |
|
| 2001 |
Lieberman AP, Friedlich DL, Harmison G, Howell BW, Jordan CL, Breedlove SM, Fischbeck KH. Androgens regulate the mammalian homologues of invertebrate sex determination genes tra-2 and fox-1. Biochemical and Biophysical Research Communications. 282: 499-506. PMID 11401487 DOI: 10.1006/bbrc.2001.4617 |
0.598 |
|
| 2001 |
McCampbell A, Fischbeck KH. Polyglutamine and CBP: fatal attraction? Nature Medicine. 7: 528-30. PMID 11329046 DOI: 10.1038/87842 |
0.717 |
|
| 2001 |
Lieberman AP, Puls I, Fischbeck KH. Mining the genome for causes and cures of neurological disease. Trends in Pharmacological Sciences. 22: 161-2. PMID 11282405 DOI: 10.1016/S0165-6147(00)01681-3 |
0.588 |
|
| 2000 |
Blair IP, Bennett CL, Abel A, Rabin BA, Griffin JW, Fischbeck KH, Cornblath DR, Chance PF. A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. Neurogenetics. 3: 1-6. PMID 11085590 DOI: 10.007/s100489900089 |
0.372 |
|
| 2000 |
McCampbell A, Taylor JP, Taye AA, Robitschek J, Li M, Walcott J, Merry D, Chai Y, Paulson H, Sobue G, Fischbeck KH. CREB-binding protein sequestration by expanded polyglutamine. Human Molecular Genetics. 9: 2197-202. PMID 10958659 DOI: 10.1093/Hmg/9.14.2197 |
0.778 |
|
| 2000 |
Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle & Nerve. 23: 843-50. PMID 10842259 DOI: 10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8 |
0.652 |
|
| 1999 |
Fischbeck KH, Abel A, Lin GS, Scherer SS. X-linked Charcot-Marie-Tooth Disease and Connexin32. Annals of the New York Academy of Sciences. 883: 36-41. PMID 29086942 DOI: 10.1111/J.1749-6632.1999.Tb08564.X |
0.354 |
|
| 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 |
0.614 |
|
| 1999 |
Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Androgen receptor mutation in Kennedy's disease. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 354: 1075-8. PMID 10434308 DOI: 10.1098/rstb.1999.0461 |
0.636 |
|
| 1999 |
Abel A, Bone LJ, Messing A, Scherer SS, Fischbeck KH. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. Journal of Neuropathology and Experimental Neurology. 58: 702-10. PMID 10411340 DOI: 10.1097/00005072-199907000-00004 |
0.378 |
|
| 1999 |
Hadjigeorgiou GM, Kim SH, Fischbeck KH, Andreu AL, Berry GT, Bingham P, Shanske S, Bonilla E, DiMauro S. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. Journal of the Neurological Sciences. 164: 153-7. PMID 10402027 DOI: 10.1016/S0022-510X(99)00062-3 |
0.33 |
|
| 1999 |
Scherer SS, Bone LJ, Deschênes SM, Abel A, Balice-Gordon RJ, Fischbeck KH. The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. Novartis Foundation Symposium. 219: 175-85; discussion 1. PMID 10207904 DOI: 10.1002/9780470515587.Ch11 |
0.384 |
|
| 1999 |
Scherer SS, Fischbeck KH. Is CMTX an axonopathy? Neurology. 52: 432-3. PMID 9932989 DOI: 10.1212/Wnl.52.2.432-A |
0.319 |
|
| 1998 |
Li M, Nakagomi Y, Kobayashi Y, Merry DE, Tanaka F, Doyu M, Mitsuma T, Hashizume Y, Fischbeck KH, Sobue G. Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy. The American Journal of Pathology. 153: 695-701. PMID 9736019 DOI: 10.1016/S0002-9440(10)65612-X |
0.398 |
|
| 1998 |
Li M, Miwa S, Kobayashi Y, Merry DE, Yamamoto M, Tanaka F, Doyu M, Hashizume Y, Fischbeck KH, Sobue G. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Annals of Neurology. 44: 249-54. PMID 9708548 DOI: 10.1002/ana.410440216 |
0.388 |
|
| 1998 |
Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia. 24: 8-20. PMID 9700485 DOI: 10.1002/(Sici)1098-1136(199809)24:1<8::Aid-Glia2>3.0.Co;2-3 |
0.327 |
|
| 1998 |
Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell. 93: 939-49. PMID 9635424 DOI: 10.1016/S0092-8674(00)81200-3 |
0.696 |
|
| 1998 |
La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmelar RS, Haugen HA, Chen K, Singer MJ, Moore D, Trask BJ, Fischbeck KH, Clegg CH, McKnight GS. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Human Molecular Genetics. 7: 959-67. PMID 9580659 DOI: 10.1093/hmg/7.6.959 |
0.579 |
|
| 1998 |
Lieberman AP, Robitaille Y, Trojanowski JQ, Dickson DW, Fischbeck KH. Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. Lancet. 351: 884. PMID 9525376 DOI: 10.1016/S0140-6736(05)70296-8 |
0.611 |
|
| 1998 |
Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Human Molecular Genetics. 7: 693-701. PMID 9499423 DOI: 10.1093/hmg/7.4.693 |
0.392 |
|
| 1998 |
Brooks BP, Merry DE, Paulson HL, Lieberman AP, Kolson DL, Fischbeck KH. A cell culture model for androgen effects in motor neurons. Journal of Neurochemistry. 70: 1054-60. PMID 9489725 DOI: 10.1046/J.1471-4159.1998.70031054.X |
0.677 |
|
| 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 |
0.335 |
|
| 1997 |
Deschênes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH. Altered trafficking of mutant connexin32. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 9077-84. PMID 9364054 DOI: 10.1523/Jneurosci.17-23-09077.1997 |
0.376 |
|
| 1997 |
Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS. Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiology of Disease. 4: 221-30. PMID 9361298 DOI: 10.1006/Nbdi.1997.0152 |
0.355 |
|
| 1997 |
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 19: 333-44. PMID 9292723 DOI: 10.1016/S0896-6273(00)80943-5 |
0.679 |
|
| 1997 |
Fischbeck KH. Kennedy disease. Journal of Inherited Metabolic Disease. 20: 152-8. PMID 9211187 DOI: 10.1023/A:1005344403603 |
0.306 |
|
| 1997 |
Brooks BP, Paulson HL, Merry DE, Salazar-Grueso EF, Brinkmann AO, Wilson EM, Fischbeck KH. Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiology of Disease. 3: 313-23. PMID 9173928 DOI: 10.1006/nbdi.1997.0126 |
0.577 |
|
| 1997 |
Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Human Molecular Genetics. 6: 753-66. PMID 9158150 DOI: 10.1093/Hmg/6.5.753 |
0.332 |
|
| 1997 |
Paulson HL, Das SS, Crino PB, Perez MK, Patel SC, Gotsdiner D, Fischbeck KH, Pittman RN. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Annals of Neurology. 41: 453-62. PMID 9124802 DOI: 10.1002/ana.410410408 |
0.684 |
|
| 1996 |
Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Human Molecular Genetics. 5: 1311-8. PMID 8872471 DOI: 10.1093/Hmg/5.9.1311 |
0.374 |
|
| 1996 |
Paulson HL, Fischbeck KH. Trinucleotide repeats in neurogenetic disorders. Annual Review of Neuroscience. 19: 79-107. PMID 8833437 DOI: 10.1146/annurev.ne.19.030196.000455 |
0.596 |
|
| 1996 |
Spiegel R, La Spada AR, Kress W, Fischbeck KH, Schmid W. Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation. 8: 32-7. PMID 8807333 DOI: 10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R |
0.604 |
|
| 1995 |
Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 29: 409-12. PMID 8666389 DOI: 10.1006/geno.1995.9987 |
0.331 |
|
| 1995 |
Brooks BP, Fischbeck KH. Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends in Neurosciences. 18: 459-61. PMID 8545913 DOI: 10.1016/0166-2236(95)94497-S |
0.463 |
|
| 1995 |
Zhang L, Fischbeck KH, Arnheim N. CAG repeat length variation in sperm from a patient with Kennedy's disease. Human Molecular Genetics. 4: 303-5. PMID 7757084 DOI: 10.1093/hmg/4.2.303 |
0.34 |
|
| 1995 |
Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, Garbern JY, Merry DE, Fischbeck KH. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genetics. 9: 191-6. PMID 7719348 DOI: 10.1038/ng0295-191 |
0.355 |
|
| 1995 |
Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exler MC, Fain PR, Fairweather ND, Fischbeck K. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Human Heredity. 45: 121-8. PMID 7615296 DOI: 10.1159/000154272 |
0.366 |
|
| 1995 |
Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease Neurology. 45: 1863-1866. PMID 7477983 DOI: 10.1212/Wnl.45.10.1863 |
0.341 |
|
| 1994 |
Schoenberg MP, Hakimi JM, Wang S, Bova GS, Epstein JI, Fischbeck KH, Isaacs WB, Walsh PC, Barrack ER. Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer. Biochemical and Biophysical Research Communications. 198: 74-80. PMID 8292051 DOI: 10.1006/Bbrc.1994.1011 |
0.301 |
|
| 1994 |
La Spada AR, Paulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. Annals of Neurology. 36: 814-22. PMID 7998766 DOI: 10.1002/ana.410360604 |
0.705 |
|
| 1994 |
Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron. 13: 1253-60. PMID 7946361 DOI: 10.1016/0896-6273(94)90063-9 |
0.342 |
|
| 1994 |
Danek A, Witt TN, Mann K, Schweikert HU, Romalo G, La Spada AR, Fischbeck KH. Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy. The Clinical Investigator. 72: 892-7. PMID 7894219 DOI: 10.1007/BF00190748 |
0.585 |
|
| 1993 |
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science (New York, N.Y.). 262: 2039-42. PMID 8266101 DOI: 10.1126/Science.8266101 |
0.371 |
|
| 1993 |
Roling DB, La Spada AR, Fischbeck KH. Kennedy's disease. Neurology. 43: 2424-5. PMID 8232979 |
0.5 |
|
| 1992 |
Warner CL, Griffin JE, Wilson JD, Jacobs LD, Murray KR, Fischbeck KH, Dickoff D, Griggs RC. X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. Neurology. 42: 2181-4. PMID 1436532 DOI: 10.1212/WNL.42.11.2181 |
0.312 |
|
| 1992 |
La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genetics. 2: 301-4. PMID 1303283 DOI: 10.1038/ng1292-301 |
0.568 |
|
| 1992 |
Timmerman V, Nelis E, Van Hui W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, Van Ommen GJB, Martin JJ, Müller HW, ... ... Fischbeck KH, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication Nature Genetics. 1: 171-175. PMID 1303230 DOI: 10.1038/Ng0692-171 |
0.396 |
|
| 1992 |
Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genetics. 1: 166-70. PMID 1303229 DOI: 10.1038/ng0692-166 |
0.354 |
|
| 1991 |
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352: 77-9. PMID 2062380 DOI: 10.1038/352077a0 |
0.625 |
|
| 1991 |
Fischbeck KH, Souders D, La Spada A. A candidate gene for X-linked spinal muscular atrophy. Advances in Neurology. 56: 209-13. PMID 1853757 |
0.521 |
|
| 1991 |
McGuire SA, Fischbeck KH. Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results. Muscle & Nerve. 14: 1209-12. PMID 1766451 DOI: 10.1002/mus.880141212 |
0.322 |
|
| 1991 |
Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Annals of Neurology. 30: 419-23. PMID 1719916 DOI: 10.1002/Ana.410300316 |
0.313 |
|
| 1990 |
Danek A, Witt TN, Stockmann HB, Weiss BJ, Schotland DL, Fischbeck KH. Normal dystrophin in McLeod myopathy. Annals of Neurology. 28: 720-2. PMID 2260862 DOI: 10.1002/Ana.410280521 |
0.608 |
|
| 1989 |
Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH. Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology. 39: 1277-80. PMID 2677830 DOI: 10.1212/WNL.39.10.1277 |
0.377 |
|
| 1988 |
Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 334: 154-6. PMID 3290691 DOI: 10.1038/334154A0 |
0.396 |
|
| 1988 |
Scott MO, Sylvester JE, Heiman-Patterson T, Shi YJ, Fieles W, Stedman H, Burghes A, Ray P, Worton R, Fischbeck KH. Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science (New York, N.Y.). 239: 1418-20. PMID 2450401 DOI: 10.1126/Science.2450401 |
0.315 |
|
| 1987 |
Fischbeck KH. Bulbospinal muscular atrophy Neurology. 37: 1887. DOI: 10.1212/Wnl.37.12.1888-A |
0.343 |
|
| 1986 |
Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 36: 1595-8. PMID 3466055 DOI: 10.1212/Wnl.36.12.1595 |
0.324 |
|
| 1984 |
Fischbeck KH, Bonilla E, Schotland DL. Distribution of freeze-fracture particle sizes in Duchenne muscle plasma membrane. Neurology. 34: 534-5. PMID 6538312 DOI: 10.1212/Wnl.34.4.534 |
0.601 |
|
| 1984 |
Fischbeck KH, Bonilla E, Schotland DL. Distribution of freeze-fracture particle sizes in duchenne muscle plasma membrane Neurology. 34: 534-535. |
0.558 |
|
| 1983 |
Fischbeck KH, Schotland DL. Variability of X-linked muscular dystrophy. Annals of Neurology. 13: 217. PMID 6830187 DOI: 10.1002/Ana.410130225 |
0.552 |
|
| 1983 |
Bonilla E, Fischbeck KH, Schotland DL. Freeze-fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy. Neurology. 33: 1346-7. PMID 6684233 DOI: 10.1212/Wnl.33.10.1346 |
0.613 |
|
| 1983 |
Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture analysis of plasma membrane cholesterol in Duchenne muscle. Annals of Neurology. 13: 532-5. PMID 6681514 DOI: 10.1002/Ana.410130510 |
0.57 |
|
| 1982 |
Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles. Journal of Ultrastructure Research. 81: 117-23. PMID 7143534 DOI: 10.1016/S0022-5320(82)90045-4 |
0.574 |
|
| 1982 |
Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture characterization of 'young' and 'old' human erythrocytes. Biochimica Et Biophysica Acta. 685: 207-10. PMID 7059602 DOI: 10.1016/0005-2736(82)90100-6 |
0.562 |
|
| 1982 |
Wakayama Y, Fischbeck K, Bonilla E, Schotland DL. Erythrocyte membrane studies Neurology. 32: 917. DOI: 10.1212/Wnl.31.10.1371-A |
0.581 |
|
| 1981 |
Schotland DL, Bonilla E, Fischbeck KH. Erythrocyte membrane studies: Reply from the authors Neurology. 31: 1371. |
0.543 |
|
| 1976 |
Letinsky MS, Fischbeck KH, McMahan UJ. Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush. Journal of Neurocytology. 5: 691-718. PMID 1087337 DOI: 10.1007/BF01181582 |
0.604 |
|
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