Publications in collaboration with researchers from Universidade de Santiago de Compostela (22)

2020

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

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

2017

  1. 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. No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, Núm. 1, pp. 54-65

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

2012

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

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

  2. Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation, Vol. 33, Núm. 9, pp. 1315-1323

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. New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0

    PLoS ONE, Vol. 4, Núm. 4

2005

  1. SNaPshot typing of mitochondrial DNA coding region variants.

    Methods in molecular biology (Clifton, N.J.), Vol. 297, pp. 197-208

2004

  1. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

    Archives of Neurology, Vol. 61, Núm. 7, pp. 1108-1110

  2. Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis

    Gene, Vol. 329, Núm. 1-2, pp. 17-25

  3. Microgeographic substructure of NW Iberian Y chromosome STR haplotypes

    International Congress Series, Vol. 1261, Núm. C, pp. 296-298

  4. Typing mtDNA SNPs of forensic and population interest with snapshot

    International Congress Series, Vol. 1261, Núm. C, pp. 419-421

  5. Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

    Forensic Science International, Vol. 140, Núm. 2-3, pp. 251-257

2003

  1. Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): Forensic and anthropological implications

    International Congress Series, Vol. 1239, Núm. C, pp. 61-66

  2. Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4

    Forensic Science International, Vol. 131, Núm. 2-3, pp. 220-224

  3. Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: Population data

    Forensic Science International, Vol. 135, Núm. 2, pp. 150-157