Stéphanie Bauché

机构：Inserm, Sorbonne Université, Sorbonne Paris Cité, Institut de Myologie, Centre de Recherche en Myologie · ORCID：0000-0002-6926-339X

发表论文 78 篇 · 总被引 2126 次 · h-index 20

代表论文

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy (2009 · The Journal of Cell Biology · 被引 389)
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression (2013 · Brain · 被引 136)
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy (2014 · Brain · 被引 106)
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea (2016 · The American Journal of Human Genetics · 被引 96)
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients (2015 · Annals of Clinical and Translational Neurology · 被引 95)
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations (2011 · Neuromuscular Disorders · 被引 81)