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Kathryn North
Kathryn North
在 mcri.edu.au 的电子邮件经过验证 - 首页
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Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
JM Kaplan, S H Kim, KN North, H Rennke, L A Correia, HQ Tong, ...
Nature genetics 24 (3), 251-256, 2000
15982000
ACTN3 genotype is associated with human elite athletic performance
N Yang, DG MacArthur, JP Gulbin, AG Hahn, AH Beggs, S Easteal, ...
The American Journal of human genetics 73 (3), 627-631, 2003
12662003
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
SL Hyman, A Shores, KN North
Neurology 65 (7), 1037-1044, 2005
6952005
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6702017
Distinctive patterns of microRNA expression in primary muscular disorders
I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ...
Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007
6062007
A common nonsense mutation results in α-actinin-3 deficiency in the general population
KN North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, AH Beggs
Nature genetics 21 (4), 353-354, 1999
5901999
A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox, ET Dermitzakis, ME Hurles, ...
Nature 577 (7789), 179-189, 2020
5882020
Differential expression of the actin-binding proteins, α-actinin-2 and-3, in different species: implications for the evolution of functional redundancy
M Mills, N Yang, R Weinberger, DL Vander Woude, AH Beggs, S Easteal, ...
Human molecular genetics 10 (13), 1335-1346, 2001
5682001
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ...
Nature genetics 23 (2), 208-212, 1999
4611999
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ...
Brain 130 (10), 2725-2735, 2007
4582007
Genes and human elite athletic performance
DG MacArthur, KN North
East African Running, 241-257, 2007
4302007
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
DG MacArthur, JT Seto, JM Raftery, KG Quinlan, GA Huttley, JW Hook, ...
Nature genetics 39 (10), 1261-1265, 2007
3892007
A gene for speed? The evolution and function of α‐actinin‐3
DG MacArthur, KN North
Bioessays 26 (7), 786-795, 2004
3702004
An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance
DG MacArthur, JT Seto, S Chan, KGR Quinlan, JM Raftery, N Turner, ...
Human molecular genetics 17 (8), 1076-1086, 2008
3592008
Diagnostic approach to the congenital muscular dystrophies
CG Bönnemann, CH Wang, S Quijano-Roy, N Deconinck, E Bertini, ...
Neuromuscular disorders 24 (4), 289-311, 2014
3482014
Cognitive function and academic performance in neurofibrornatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force
KN North, V Riccardi, C Samango-Sprouse, R Ferner, B Moore, E Legius, ...
Neurology 48 (4), 1121-1127, 1997
3431997
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke
DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
3352001
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes
M Bastiani, L Liu, MM Hill, MP Jedrychowski, SJ Nixon, HP Lo, ...
Journal of Cell Biology 185 (7), 1259-1273, 2009
3302009
Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular disorders 24 (2), 97-116, 2014
3262014
Nemaline myopathy: a clinical study of 143 cases
MM Ryan, C Schnell, CD Strickland, LK Shield, G Morgan, ST Iannaccone, ...
Annals of Neurology: Official Journal of the American Neurological …, 2001
3232001
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