Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (23)

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

  2. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34

  3. Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

    Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203

2021

  1. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

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

2015

  1. Applied and translational neurogenomics

    Applied and Translational Genomics

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

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

2013

  1. SNOMED CT module-driven clinical archetype management

    Journal of Biomedical Informatics, Vol. 46, Núm. 3, pp. 388-400

2012

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

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

  2. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 159 B, Núm. 1, pp. 94-103

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. A semantic web approach to integrate phenotype descriptions and clinical data

    Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

  3. Call for participation in the neurogenetics consortium within the Human Variome Project

    Neurogenetics, Vol. 12, Núm. 3, pp. 169-173

  4. Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey

    European Journal of Neurology, Vol. 18, Núm. 10, pp. 1203-1211

2010

  1. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

    Human Mutation, Vol. 31, Núm. 11, pp. 1179-1184

2009

  1. Behavioral disorders in parkinson's disease. GENETIC, pharmacological and medico-legal aspects

    Revista de Neurologia, Vol. 48, Núm. SUPPL. 1

  2. Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

    Genetics in Medicine

  3. Planning the human variome project: The Spain report

    Human Mutation, Vol. 30, Núm. 4, pp. 496-510

  4. Two-stage case-control association study of dopamine-related genes and migraine

    BMC Medical Genetics, Vol. 10, pp. 95