| 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 | 8910 | 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 | 1017 | 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 | 704 | 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 | 470 | 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 | 432 | 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 | 359 | 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 | 353 | 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 | 341 | 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 | 329 | 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 | 275 | 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 | 272 | 2007 |
| 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 | 269 | 1997 |
| 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 | 268 | 2009 |
| 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 | 245 | 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 | 242 | 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 | 234 | 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 | 229 | 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 | 226 | 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 | 222 | 2015 |
| Recessive Amyotrophic Lateral Sclerosis Families with the D90A SOD1 Mutation Share a Common Founder: Evidence for a Linked Protective Factor A Al-Chalabi, PM Andersen, B Chioza, C Shaw, PC Sham, W Robberecht, ... Human molecular genetics 7 (13), 2045-2050, 1998 | 208 | 1998 |
