Publications by the researcher in collaboration with María Jesús Sobrido Gómez (19)

2020

  1. Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

    Cerebellum, Vol. 19, Núm. 4, pp. 501-509

2017

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

    American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103

  2. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

2016

  1. Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

    Journal of the Neurological Sciences, Vol. 362, pp. 321-325

2015

  1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

  2. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2014

  1. Medical genomics: The intricate path from genetic variant identification to clinical interpretation

    Applied and Translational Genomics, Vol. 3, Núm. 3, pp. 60-67

2013

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

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

  2. Actualización en la base genética de las distonías

    Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32

  3. Databases for neurogenetics: Introduction, overview, and challenges

    Human Mutation, Vol. 33, Núm. 9, pp. 1311-1314

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

  2. sesoramiento genético en Neurología: un problema complejo que necesita regulación

    Neurologia, Vol. 26, Núm. 3, pp. 129-136

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503

2004

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

    Oncogene, Vol. 23, Núm. 6, pp. 1314-1320

2001

  1. Rare HRAS1 alleles are a risk factor for the development of brain tumors

    Cancer, Vol. 92, Núm. 11, pp. 2920-2926

2000

  1. Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors

    Electrophoresis, Vol. 21, Núm. 8, pp. 1471-1477

  2. Low frequency of replication errors in primary nervous system tumours

    Journal of Neurology Neurosurgery and Psychiatry, Vol. 69, Núm. 3, pp. 369-375