María Jesús Sobrido

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 328 citations · Full text

Life Sciences, Genetics, Neuroscience +11

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Ana I. Seixas, Joana R. Loureiro, Cristina Costa et al. · The American Journal of Human Genetics · 2017 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

María García-Murias, Beatriz Quintáns, Manuel Arias et al. · Brain · 2012 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations

Ana Vega, Antonio Salas, Elena Gamborino et al. · Oncogene · 2003 · 48 citations

Medicine, Genetics, Molecular Genetics +16

Neurophysiological study in cerebrotendinous xanthomatosis

Belén Pilo, Gema de Blas, María Jesús Sobrido et al. · Muscle & Nerve · 2011 · 34 citations · Full text

Medicine, Neurology, Neuroscience +15