متابعة
Norma B. Romero
Norma B. Romero
Université Sorbonne-UPMC-Paris 6, Paris France
ليس هناك بريد إلكتروني تم التحقق منه
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
6862001
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
6022001
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
5941994
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
5672012
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
5491990
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
5072005
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
4142002
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
4082001
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
3342014
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
3202008
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
3092007
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.
E Tournier-Lasserve, MT Iba-Zizen, N Romero, MG Bousser
Stroke 22 (10), 1297-1302, 1991
3031991
Centronuclear myopathies: a widening concept
NB Romero
Neuromuscular Disorders 20 (4), 223-228, 2010
2872010
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
2811999
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
2682003
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
2572001
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
2522009
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
2521988
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
2481995
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
2412002
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مقالات 1–20