Pilar Casquero

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

Tania López-Hernández, Sònia Sirisi, Xavier Capdevila‐Nortes et al. · Human Molecular Genetics · 2011 · 98 citations · Full text

Neurological Disorder, Pathology, Glioma +19

Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers

Claustre Pont‐Sunyer, Álex Iranzo, Carles Gaig et al. · PLoS ONE · 2015 · 90 citations · Full text

The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-β

Pablo Villoslada, Lisa F. Barcellos, Jordi Río et al. · Journal of Neuroimmunology · 2002 · 75 citations

Disease Susceptibility, Autoimmune Disease, Neurological Disorder +13

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

Elisabet Ars, H. Kruyer, Antonia Gaona et al. · The American Journal of Human Genetics · 1998 · 64 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers

Dolores Vilas, Lourdes Ispierto, Ramiro Álvarez et al. · Parkinsonism & Related Disorders · 2015 · 40 citations

Mendelian Disorder, Genetic Disorder, Medicine +7