Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (25)

2022

  1. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

    Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186

2020

  1. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

    Neuron, Vol. 107, Núm. 2, pp. 292-305.e6

  2. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

    Cell Reports, Vol. 31, Núm. 5

  3. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 8, pp. 1436-1442

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

  2. Primary familial brain calcifications

    Handbook of Clinical Neurology (Elsevier B.V.), pp. 307-317

  3. 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. La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»

    Neurologia

  3. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

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. Restless legs syndrome in non-dialysis renal patients: Is it really that common?

    Journal of Clinical Sleep Medicine, Vol. 11, Núm. 1, pp. 57-60

2014

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

    Database, Vol. 2014

  2. Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants causing Neurological Disease

    Journal of Biological Chemistry, Vol. 289, Núm. 6, pp. 3186-3197

  3. The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

    American Journal of Human Genetics, Vol. 95, Núm. 2, pp. 143-161

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22

2012

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

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

  2. A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

    Cephalalgia, Vol. 32, Núm. 14, pp. 1076-1080

  3. Membranous nephropathy, leiomyoma and autoimmune myasthenia: More than a coincidence?

    Clinical Kidney Journal, Vol. 5, Núm. 6, pp. 562-565

  4. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

    Nature Genetics, Vol. 44, Núm. 3, pp. 254-256