Susana Quijano‐Roy

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy et al. · Neuromuscular Disorders · 2014 · 343 citations · Full text

Medicine, Genetics, Molecular Genetics +16

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 282 citations

Medicine, Genetics, Neurology +12

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek, Michael J. B. Krieger, Claudia Stendel et al. · Nature Genetics · 2005 · 251 citations

Life Sciences, Genetics, Neurology +8

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy et al. · Annals of Neurology · 2007 · 250 citations

Medicine, Genetics, Molecular Genetics +17

Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

Eugenio Mercuri, Martin Brockington, Volker Straub et al. · Annals of Neurology · 2003 · 237 citations

Medicine, Genetics, Neurology +12