Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3 HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ... Neuron 19 (2), 333-344, 1997 | 1010 | 1997 |
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila JM Warrick, HL Paulson, GL Gray-Board, QT Bui, KH Fischbeck, ... Cell 93 (6), 939-949, 1998 | 827 | 1998 |
CREB-binding protein sequestration by expanded polyglutamine A McCampbell, JP Taylor, AA Taye, J Robitschek, M Li, J Walcott, D Merry, ... Human molecular genetics 9 (14), 2197-2202, 2000 | 687 | 2000 |
Trinucleotide repeats in neurogenetic disorders HL Paulson, KH Fischbeck Annual review of neuroscience 19 (1), 79-107, 1996 | 422 | 1996 |
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C G Landouré, AA Zdebik, TL Martinez, BG Burnett, HC Stanescu, H Inada, ... Nature genetics 42 (2), 170-174, 2010 | 363 | 2010 |
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain HL Paulson, SS Das, PB Crino, MK Perez, SC Patel, D Gotsdiner, ... Annals of Neurology: Official Journal of the American Neurological …, 1997 | 335 | 1997 |
Trinucleotide repeat expansion in neurological disease AR La Spada, HL Paulson, KH Fischbeck Annals of Neurology: Official Journal of the American Neurological …, 1994 | 252 | 1994 |
Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease HL Paulson, JY Garbern, TF Hoban, KM Krajewski, RA Lewis, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 178 | 2002 |
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ... Brain 133 (6), 1798-1809, 2010 | 151 | 2010 |
A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo A Vester, G Velez‐Ruiz, HM McLaughlin, ... Human mutation 34 (1), 191-199, 2013 | 143 | 2013 |
A cell culture model for androgen effects in motor neurons BP Brooks, DE Merry, HL Paulson, AP Lieberman, DL Kolson, ... Journal of neurochemistry 70 (3), 1054-1060, 1998 | 121 | 1998 |
Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system BP Brooks, HL Paulson, DE Merry, EF Salazar-Grueso, AO Brinkmann, ... Neurobiology of disease 3 (4), 313-323, 1997 | 116 | 1997 |
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 99 | 2013 |
Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia C Rinaldi, T Schmidt, AJ Situ, JO Johnson, PR Lee, K Chen, LC Bott, ... JAMA neurology 72 (5), 561-570, 2015 | 83 | 2015 |
Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa M Sangaré, B Hendrickson, HA Sango, K Chen, J Nofziger, A Amara, ... Annals of neurology 75 (4), 525-532, 2014 | 48 | 2014 |
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy RD Guber, V Takyar, A Kokkinis, DA Fox, H Alao, I Kats, D Bakar, ... Neurology 89 (24), 2481-2490, 2017 | 38 | 2017 |
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial C Grunseich, R Miller, T Swan, DJ Glass, M El Mouelhi, M Fornaro, ... The Lancet Neurology 17 (12), 1043-1052, 2018 | 36 | 2018 |
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 KG Meilleur, M Traoré, M Sangaré, A Britton, G Landouré, S Coulibaly, ... Neurogenetics 11, 313-318, 2010 | 35 | 2010 |
A candidate gene for autoimmune myasthenia gravis G Landouré, MA Knight, H Stanescu, AA Taye, Y Shi, O Diallo, ... Neurology 79 (4), 342-347, 2012 | 26 | 2012 |
A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease A Yalcouyé, SH Diallo, T Coulibaly, L Cissé, S Diallo, O Samassékou, ... Molecular Genetics & Genomic Medicine 7 (7), e00782, 2019 | 24 | 2019 |