Publicacións nas que colabora con María Jesús Sobrido Gómez (21)

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

  3. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

    Movement Disorders, Vol. 32, Núm. 2, pp. 264-273

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. Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

    Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964

  4. 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