J. Colomer

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 281 citations

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano et al. · Nature Genetics · 1995 · 217 citations

Genetics, Frame–shift Deletion, Degenerative Disease +7

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez et al. · Brain · 2008 · 159 citations · Full text

Developmental Anomaly, Rare Diseases, Ache Deficiency +13

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 157 citations

Down Syndrome, Developmental Anomaly, Rare Diseases +10

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Susana G. Kalko, Sonia Paco, Cristina Jou et al. · BMC Genomics · 2014 · 122 citations · Full text