Samuel Ignacio Pascual Pascual

Sturge-Weber Syndrome. Study of 55 Patients

I Pascual-Castroviejo, Samuel Ignacio Pascual Pascual, R. Velázquez-Fragua et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 2008 · 232 citations · Full text

Medicine, Neurology, Ophthalmology +9

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Katsiaryna Belaya, Sarah Finlayson, Clarke R. Slater et al. · The American Journal of Human Genetics · 2012 · 144 citations · Full text

Medicine, Genetics, Molecular Genetics +3

Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.

I Pascual-Castroviejo, J. Viaño, Fernando Moreno et al. · PubMed · 1996 · 115 citations · Full text

Medicine, Radiology, Cranial Nerve Disorders +15

Hypomelanosis of ITO. A study of 76 infantile cases

I Pascual-Castroviejo, Carmen Roche, A Martínez-Bermejo et al. · Brain and Development · 1998 · 111 citations

Medicine, Endocrinology, Pediatrics +4

Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio et al. · Brain · 2015 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17