Prati
Susana Quijano-Roy
Susana Quijano-Roy
Head of the Neuromuscular Unit, Pediatric Neurology Department, Raymond Poincaré Hospital
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Citirano
Citirano
Godina
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
9242018
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ...
Neuromuscular Disorders 28 (3), 197-207, 2018
6312018
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
3972002
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
3502014
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
3312014
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
3062008
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ...
Nature genetics 37 (12), 1312-1314, 2005
2932005
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy
V Carmignac, MAM Salih, S Quijano‐Roy, S Marchand, MM Al Rayess, ...
Annals of neurology 61 (4), 340-351, 2007
2652007
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
2582003
Consensus statement on standard of care for congenital muscular dystrophies
CH Wang, CG Bonnemann, A Rutkowski, T Sejersen, J Bellini, V Battista, ...
Journal of child neurology 25 (12), 1559-1581, 2010
2472010
SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance
NF Clarke, W Kidson, S Quijano‐Roy, B Estournet, A Ferreiro, ...
Annals of neurology 59 (3), 546-552, 2006
1892006
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies
K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, ...
Circulation 140 (4), 293-302, 2019
1772019
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ...
The American Journal of Human Genetics 90 (2), 201-216, 2012
1652012
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ...
Journal of medical genetics 50 (7), 463-472, 2013
1512013
Whole body muscle MRI protocol: pattern recognition in early onset NM disorders
S Quijano-Roy, D Avila-Smirnow, RY Carlier, ...
Neuromuscular Disorders 22, S68-S84, 2012
1472012
Early onset collagen VI myopathies: Genetic and clinical correlations
L Brinas, P Richard, S Quijano‐Roy, C Gartioux, C Ledeuil, E Lacène, ...
Annals of neurology 68 (4), 511-520, 2010
1472010
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors
AT Bertrand, S Ziaei, C Ehret, H Duchemin, K Mamchaoui, A Bigot, ...
Journal of cell science 127 (13), 2873-2884, 2014
1402014
Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
G Bonne, S Quijano-Roy
Handbook of clinical neurology 113, 1367-1376, 2013
1372013
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, ...
Nature communications 7 (1), 11534, 2016
1352016
ColVI myopathies: where do we stand, where do we go?
V Allamand, L Briñas, P Richard, T Stojkovic, S Quijano-Roy, G Bonne
Skeletal muscle 1, 1-14, 2011
1242011
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