Kelly L Williams
Kelly L Williams
Macquarie University Centre for Motor Neuron Disease Research
Verified email at mq.edu.au - Homepage
Title
Cited by
Cited by
Year
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
J Sreedharan, IP Blair, VB Tripathi, X Hu, C Vance, B Rogelj, S Ackerley, ...
Science 319 (5870), 1668-1672, 2008
23072008
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
C Vance, B Rogelj, T Hortobágyi, KJ De Vos, AL Nishimura, J Sreedharan, ...
Science 323 (5918), 1208-1211, 2009
22652009
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ...
Science 347 (6229), 1436-1441, 2015
6412015
A yeast functional screen predicts new candidate ALS disease genes
J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ...
Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011
3512011
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043, 2016
3062016
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
2612014
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
J Couthouis, MP Hart, R Erion, OD King, Z Diaz, T Nakaya, F Ibrahim, ...
Human molecular genetics 21 (13), 2899-2911, 2012
2412012
FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
IP Blair, KL Williams, ST Warraich, JC Durnall, AD Thoeng, J Manavis, ...
Journal of Neurology, Neurosurgery & Psychiatry 81 (6), 639-645, 2010
2282010
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
2142018
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration–motor neuron disease
AA Luty, JBJ Kwok, C Dobson‐Stone, CT Loy, KG Coupland, H Karlström, ...
Annals of neurology 68 (5), 639-649, 2010
1822010
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037, 2016
1542016
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
KL Williams, ST Warraich, S Yang, JA Solski, R Fernando, GA Rouleau, ...
Neurobiology of aging 33 (10), 2527. e3-2527. e10, 2012
1522012
Exome sequencing to identify de novo mutations in sporadic ALS trios
A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, ...
Nature neuroscience 16 (7), 851, 2013
1322013
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ...
Nature communications 7, 11253, 2016
1272016
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ...
The American Journal of Human Genetics 93 (5), 900-905, 2013
1162013
Pathophysiological insights into ALS with C9ORF72 expansions
KL Williams, JA Fifita, S Vucic, JC Durnall, MC Kiernan, IP Blair, ...
J Neurol Neurosurg Psychiatry 84 (8), 931-935, 2013
902013
Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase
MA Farg, KY Soo, AK Walker, H Pham, J Orian, MK Horne, ST Warraich, ...
Neurobiology of aging 33 (12), 2855-2868, 2012
842012
Arts syndrome is caused by loss-of-function mutations in PRPS1
APM de Brouwer, KL Williams, JA Duley, ABP van Kuilenburg, ...
The American Journal of Human Genetics 81 (3), 507-518, 2007
772007
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
RL McLaughlin, D Schijven, W Van Rheenen, KR Van Eijk, M O’Brien, ...
Nature communications 8, 14774, 2017
732017
Defects in optineurin-and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis
V Sundaramoorthy, AK Walker, V Tan, JA Fifita, EP Mccann, KL Williams, ...
Human molecular genetics 24 (13), 3830-3846, 2015
572015
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