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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ... Nature genetics 37 (3), 289-294, 2005 | 418 | 2005 |
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies GA Nicholson, LJ Valentijn, AK Cherryson, ML Kennerson, TL Bragg, ... Nature genetics 6 (3), 263-266, 1994 | 283 | 1994 |
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis C Chiu, RD Bagnall, J Ingles, L Yeates, M Kennerson, JA Donald, ... Journal of the American College of Cardiology 55 (11), 1127-1135, 2010 | 206 | 2010 |
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy ML Kennerson, GA Nicholson, SG Kaler, B Kowalski, JFB Mercer, J Tang, ... The American Journal of Human Genetics 86 (3), 343-352, 2010 | 202 | 2010 |
The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22. 1–q22. 3 GA Nicholson, JL Dawkins, IP Blair, ML Kennerson, MJ Gordon, ... Nature genetics 13 (1), 101-104, 1996 | 164 | 1996 |
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor C Rinaldi, C Grunseich, IF Sevrioukova, A Schindler, I Horkayne-Szakaly, ... The American Journal of Human Genetics 91 (6), 1095-1102, 2012 | 149 | 2012 |
A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N) HM McLaughlin, R Sakaguchi, W Giblin, ... Human mutation 33 (1), 244-253, 2012 | 125 | 2012 |
Charcot–Marie–Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations D Zhu, ML Kennerson, G Walizada, S Zuchner, JM Vance, GA Nicholson Neurology 65 (3), 496-497, 2005 | 119 | 2005 |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy RD Susman, S Quijano-Roy, N Yang, R Webster, NF Clarke, J Dowling, ... Neuromuscular Disorders 20 (4), 229-237, 2010 | 115 | 2010 |
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy KG Claeys, S Züchner, M Kennerson, J Berciano, A Garcia, K Verhoeven, ... Brain 132 (7), 1741-1752, 2009 | 103 | 2009 |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ... Brain 138 (8), 2191-2205, 2015 | 102 | 2015 |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia M Minnerop, D Kurzwelly, H Wagner, AS Soehn, J Reichbauer, F Tao, ... Brain 140 (6), 1561-1578, 2017 | 101 | 2017 |
A new autosomal dominant pure cerebellar ataxia E Storey, RJM Gardner, MA Knight, ML Kennerson, RR Tuck, SM Forrest, ... Neurology 57 (10), 1913-1915, 2001 | 94 | 2001 |
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? P De Jonghe, M Auer‐Grumbach, J Irobi, K Wagner, B Plecko, ... Brain 125 (6), 1320-1325, 2002 | 92 | 2002 |
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing I Stevanovski, SR Chintalaphani, H Gamaarachchi, JM Ferguson, ... Science advances 8 (9), eabm5386, 2022 | 91 | 2022 |
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy PC Tsai, BW Soong, I Mademan, YH Huang, CR Liu, CT Hsiao, HT Wu, ... Brain 140 (5), 1252-1266, 2017 | 88 | 2017 |
A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene ML Kennerson, EM Yiu, DT Chuang, A Kidambi, SC Tso, C Ly, ... Human molecular genetics 22 (7), 1404-1416, 2013 | 87 | 2013 |
Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re‐oxygenation injury TTH Duong, PK Witting, ST Antao, SN Parry, M Kennerson, B Lai, S Vogt, ... Journal of neurochemistry 108 (5), 1143-1154, 2009 | 85 | 2009 |
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24 C Kok, ML Kennerson, PJ Spring, AJ Ing, JD Pollard, GA Nicholson The American Journal of Human Genetics 73 (3), 632-637, 2003 | 82 | 2003 |