Jaume Colomer

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

Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

Louise V.B. Anderson, Keith Davison, Jennifer A. Moss et al. · American Journal Of Pathology · 1998 · 166 citations · Full text

Medicine, Biochemistry, Molecular Biology +15

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Velina Guergueltcheva, Juliane Müller, Marina Dusl et al. · Journal of Neurology · 2011 · 98 citations

Medicine, Genetics, Molecular Genetics +7

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 80 citations

Life Sciences, Genetics, Molecular Genetics +14