Susana Quijano‐Roy

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Richard S. Finkel, Eugenio Mercuri, Oscar H. Meyer et al. · Neuromuscular Disorders · 2017 · 667 citations · Full text

Medicine, Internal Medicine, Pharmacotherapy +10

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano‐Roy et al. · Annals of Neurology · 2010 · 134 citations · Full text

Medicine, Genetics, Molecular Genetics +16

ColVI myopathies: where do we stand, where do we go?

Valérie Allamand, Laura Briñas, Pascale Richard et al. · Skeletal Muscle · 2011 · 109 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Frédérique Audic, Marta Gómez García de la Banda, Delphine Bernoux et al. · Orphanet Journal of Rare Diseases · 2020 · 101 citations · Full text

Medicine, Neurology, Pediatrics +17