Publicacións nas que colabora con Beatriz Quintáns Castro (25)

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. 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. Actualización en la base genética de las distonías

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

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

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

  2. Microgeographic substructure of NW Iberian Y chromosome STR haplotypes

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

  3. Nuevos retos en genética forense, SNPs de cromosoma Y y mitocondrial, nuevos microsatélites de cromosoma Y e influencia de la subestructura poblacional

    Nuevos retos en genética forense, SNPs de cromosoma Y y mitocondrial, nuevos microsatélites de cromosoma Y e influencia de la subestructura poblacional

  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. Patrones microgeográficos de haplotipos de cromosoma Y en Galicia: implicaciones forenses y antropológicas

    Ciencia forense: Revista aragonesa de medicina legal, Núm. 5, pp. 363-368