Pedro M. Rodríguez Cruz

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

Pedro M. Rodríguez Cruz, Michal Al-Hajjar, Saif Huda et al. · JAMA Neurology · 2015 · 159 citations · Full text

Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu et al. · Brain · 2015 · 139 citations · Full text

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz et al. · The American Journal of Human Genetics · 2015 · 78 citations · Full text

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 77 citations

Developmental Anomaly, Mendelian Disorder, Congenital Myasthenic Syndromes +6