Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (34)

2023

  1. Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation

    Frontiers in Molecular Neuroscience, Vol. 16

2022

  1. A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

    Biomedicines, Vol. 10, Núm. 8

2021

  1. Zebrafish Models of Autosomal Dominant Ataxias

    Cells, Vol. 10, Núm. 2

  2. Zebrafish Models of Autosomal Recessive Ataxias

    Cells, Vol. 10, Núm. 4

2020

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

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

2018

  1. SARAEasy: A mobile app for cerebellar syndrome quantification and characterization

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

2017

  1. An ontology-aware integration of clinical models, terminologies and guidelines: An exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

    BMC Medical Informatics and Decision Making, Vol. 17, Núm. 1

  2. 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

  2. Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation

    Human Mutation, Vol. 37, Núm. 10, pp. 1106-1109

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

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

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

2014

  1. Automated semantic annotation of rare disease cases: A case study

    Database, Vol. 2014

  2. 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

  2. SNOMED CT module-driven clinical archetype management

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

2012

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

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

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

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

  3. Querying phenotype-genotype relationships on patient datasets using semantic web technology: The example of cerebrotendinous xanthomatosis

    BMC Medical Informatics and Decision Making, Vol. 12, Núm. 1