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 · 642 citations · Full text

Palliative Care, Spine Care, Other Organ Systems +14

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 · 159 citations · Full text

Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano‐Roy et al. · Annals of Neurology · 2010 · 132 citations · Full text

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

Mendelian Disorder, Collagen Vi Myopathies, Skeletal Muscle +12

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 · 99 citations · Full text