Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ... The American Journal of Human Genetics 69 (6), 1198-1209, 2001 | 686 | 2001 |
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ... Human molecular genetics 10 (25), 2851-2859, 2001 | 602 | 2001 |
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy SL Roberds, F Leturcq, V Allamand, F Piccolo, M Jeanpierre, ... Cell 78 (4), 625-633, 1994 | 594 | 1994 |
Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson’s disease O Cooper, H Seo, S Andrabi, C Guardia-Laguarta, J Graziotto, ... Science translational medicine 4 (141), 141ra90-141ra90, 2012 | 567 | 2012 |
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. A Rötig, V Cormier, S Blanche, JP Bonnefont, F Ledeist, N Romero, ... The Journal of clinical investigation 86 (5), 1601-1608, 1990 | 549 | 1990 |
Mutations in dynamin 2 cause dominant centronuclear myopathy M Bitoun, S Maugenre, PY Jeannet, E Lacène, X Ferrer, P Laforêt, ... Nature genetics 37 (11), 1207-1209, 2005 | 507 | 2005 |
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology … A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ... The American Journal of Human Genetics 71 (4), 739-749, 2002 | 414 | 2002 |
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ... Nature genetics 29 (1), 17-18, 2001 | 408 | 2001 |
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin Y Allenbach, L Drouot, A Rigolet, JL Charuel, F Jouen, NB Romero, ... Medicine 93 (3), 150-157, 2014 | 334 | 2014 |
De novo LMNA mutations cause a new form of congenital muscular dystrophy S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 320 | 2008 |
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes K Nguyen, G Bassez, M Krahn, R Bernard, P Laforêt, V Labelle, ... Archives of neurology 64 (8), 1176-1182, 2007 | 309 | 2007 |
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. E Tournier-Lasserve, MT Iba-Zizen, N Romero, MG Bousser Stroke 22 (10), 1297-1302, 1991 | 303 | 1991 |
Centronuclear myopathies: a widening concept NB Romero Neuromuscular Disorders 20 (4), 223-228, 2010 | 287 | 2010 |
Inducible nitric oxide synthase up‐regulation in a transgenic mouse model of familial amyotrophic lateral sclerosis G Almer, S Vukosavic, N Romero, S Przedborski Journal of neurochemistry 72 (6), 2415-2425, 1999 | 281 | 1999 |
Phenotypic spectrum associated with mutations in the fukutin‐related protein gene E Mercuri, M Brockington, V Straub, S Quijano‐Roy, Y Yuva, R Herrmann, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 268 | 2003 |
Expanded CAG repeats in exon 1 of the Huntington’s disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration A Petersén, KE Larsen, GG Behr, N Romero, S Przedborski, P Brundin, ... Human molecular genetics 10 (12), 1243-1254, 2001 | 257 | 2001 |
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, ... The American Journal of Human Genetics 85 (3), 338-353, 2009 | 252 | 2009 |
Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular function. JC Chachques, P Grandjean, K Schwartz, S Mihaileanu, M Fardeau, ... Circulation 78 (5 Pt 2), III203-16, 1988 | 252 | 1988 |
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity F Piccolo, SL Roberds, M Jeanpierre, F Leturcq, K Azibi, C Beldjord, ... Nature genetics 10 (2), 243-245, 1995 | 248 | 1995 |
A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene A Ferreiro, N Monnier, NB Romero, JP Leroy, C Bönnemann, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 241 | 2002 |