Neurogenetics, University of Western Australia, Harry Perkins Institute of Medical Research
Geverifieerd e-mailadres voor uwa.edu.au - Homepage
Geciteerd door
Geciteerd door
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
DR Rosen, T Siddique, D Patterson, DA Figlewicz, P Sapp, A Hentati, ...
Nature 362 (6415), 59-62, 1993
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
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
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
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
NG Laing, SD Wilton, PA Akkari, S Dorosz, K Boundy, C Kneebone, ...
Nature genetics 9 (1), 75-79, 1995
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ...
Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999
Complete genomic screen in Parkinson disease: evidence for multiple genes
WK Scott, MA Nance, RL Watts, JP Hubble, WC Koller, K Lyons, R Pahwa, ...
Jama 286 (18), 2239-2244, 2001
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
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
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
P Nürnberg, H Thiele, D Chandler, W Höhne, ML Cunningham, H Ritter, ...
Nature genetics 28 (1), 37-41, 2001
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin–binding protein, cofilin-2
PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, ...
The American Journal of Human Genetics 80 (1), 162-167, 2007
Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)
NG Laing, DE Dye, C Wallgren‐Pettersson, G Richard, N Monnier, S Lillis, ...
Human mutation 30 (9), 1267-1277, 2009
Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase
T Juneja, MA Pericak-Vance, NG Laing, S Dave, T Siddique
Neurology 48 (1), 55-57, 1997
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
ER Martin, WK Scott, MA Nance, RL Watts, JP Hubble, WC Koller, ...
Jama 286 (18), 2245-2250, 2001
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
C Meredith, R Herrmann, C Parry, K Liyanage, DE Dye, HJ Durling, ...
The American Journal of Human Genetics 75 (4), 703-708, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
JC Sparrow, KJ Nowak, HJ Durling, AH Beggs, C Wallgren-Pettersson, ...
Neuromuscular disorders 13 (7-8), 519-531, 2003
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
MK Tsaousidou, K Ouahchi, TT Warner, Y Yang, MA Simpson, NG Laing, ...
The American Journal of Human Genetics 82 (2), 510-515, 2008
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ...
The American Journal of Human Genetics 93 (1), 6-18, 2013
Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned
R Ghaoui, ST Cooper, M Lek, K Jones, A Corbett, SW Reddel, ...
JAMA neurology 72 (12), 1424-1432, 2015
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
KN North, NG Laing, C Wallgren-Pettersson
Journal of medical genetics 34 (9), 705, 1997
Het systeem kan de bewerking nu niet uitvoeren. Probeer het later opnieuw.
Artikelen 1–20