Claire A Grosgogeat

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A Grosgogeat et al. · Acta Neuropathologica · 2019 · 52 citations

Life Sciences, Genetics, Molecular Genetics +8

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy

Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat et al. · Human Molecular Genetics · 2019 · 44 citations · Full text

Life Sciences, Neurology, Neuromuscular Disorders +12

Homozygous <i>TRPV4</i> mutation causes congenital distal spinal muscular atrophy and arthrogryposis

J. Velilla, Michael Mario Marchetti, Ágnes Tóth-Petróczy et al. · Neurology Genetics · 2019 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Patient experiences and strategies for coping with SLE: A qualitative study

Siobhan Case, Corine Sinnette, Courtnie R. Phillip et al. · Lupus · 2021 · 23 citations · Full text

Medicine, Psychiatry, Pediatric Rheumatology +16