Pascal Laforêt

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

Ans T. van der Ploeg, Paula R. Clemens, Deyanira Corzo et al. · New England Journal of Medicine · 2010 · 747 citations · Full text

Life Sciences, Internal Medicine, Pharmacotherapy +13

Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 461 citations

Life Sciences, Genetics, Molecular Genetics +10

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer, Caroline Lefèvre, Éva Morava et al. · Nature Genetics · 2006 · 461 citations

Life Sciences, Genetics, Molecular Genetics +14

Electromyography guides toward subgroups of mutations in muscle channelopathies

Emmanuel Fournier, Marianne Arzel, Damien Sternberg et al. · Annals of Neurology · 2004 · 309 citations

Medicine, Neurology, Electrophysiology +15

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17