A.M. Cobo

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Amets Sáenz, France Leturcq, A.M. Cobo et al. · Brain · 2005 · 179 citations · Full text

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

Andone Sistiaga, Iratxe Urreta, Mercé Jódar et al. · Psychological Medicine · 2009 · 101 citations

Cognitive profile in a large french cohort of adults with Prader–Willi syndrome: differences between genotypes

P. Copet, J. Jauregi, Virginie Laurier et al. · Journal of Intellectual Disability Research · 2010 · 75 citations

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux, Rafael de Cid, Sylvain Baulande et al. · European Journal of Human Genetics · 2014 · 27 citations · Full text

Bioinformatics, Medicine, Genetics +15

Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters

A.M. Cobo, Julio Martínez Martínez, Loreto Martorell et al. · Human Molecular Genetics · 1993 · 27 citations