Publicacións nas que colabora con María Jesús Sobrido Gómez (29)

2022

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

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

2021

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

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

2020

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

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

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

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

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

    Cell Reports, Vol. 31, Núm. 5

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

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. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

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

    Neurologia

  4. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

    Movement Disorders, Vol. 32, Núm. 2, pp. 264-273

  5. 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

2015

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

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

2013

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

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

  2. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2012

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

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

  2. Anatomical, pathophysiological and neurochemical bases of rigid-akinetic syndrome

    Revista de Neurologia, Vol. 54, pp. S1-S12

  3. Erratum: Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey (Journal of the Neurological Sciences (2011) 304 (49-54))

    Journal of the Neurological Sciences

  4. Tratamiento de los trastornos de la marcha en la enfermedad de Parkinson

    Revista de Neurologia, Vol. 54, pp. S61-S68

2011

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

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

  2. Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey

    Journal of the Neurological Sciences, Vol. 304, Núm. 1-2, pp. 49-54