Norma B. Romero

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 598 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson’s Disease

Oliver Cooper, Hyemyung Seo, Shaida A. Andrabi et al. · Science Translational Medicine · 2012 · 506 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 472 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds, France Leturcq, Valérie Allamand et al. · Cell · 1994 · 457 citations

Life Sciences, Genetics, Molecular Genetics +11