The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

by Stefan Nicolau, Margherita Milone
Published 2019-03-01

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

by Stefan Nicolau, Benjamin M. Howe, Elie Naddaf
Published 2020-01-01

GYG1: A distal myopathy with polyglucosan bodies

by Stefan Nicolau, Jennifer A. Tracy, David J. Pisapia, Kurenai Tanji, Margherita Milone
Published 2020-09-01

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

by Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, C. Anwar A. Chahal, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone
Published 2021-05-01