Andoni Urtizberea

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 491 citations

Medicine, Genetics, Molecular Genetics +14

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael J. B. Krieger et al. · The American Journal of Human Genetics · 2009 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 173 citations · Full text

Medicine, Genetics, Neuroscience +10

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

F. Daoud, Nathalie Angeard, B. Demerre et al. · Human Molecular Genetics · 2009 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands

Kate Bushby, Francesco Muntoni, Andoni Urtizberea et al. · Neuromuscular Disorders · 2004 · 149 citations · Full text

Medicine, Internal Medicine, Clinical Medicine +12