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 · 162 citations

Life Sciences, Immunology, Neurology +17

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 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

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 · 81 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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