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 · 726 citations · Full text

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 · 457 citations

Metabolic Syndrome, Lipid Metabolism, Biochemistry +9

Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 452 citations · Full text

Mitochondrial Myopathy, Mendelian Disorder, Genetic Disorder +5

Electromyography guides toward subgroups of mutations in muscle channelopathies

Emmanuel Fournier, Marianne Arzel, Damien Sternberg et al. · Annals of Neurology · 2004 · 305 citations

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text