Publicacións nas que colabora con María Jesús Sobrido Gómez (12)

2022

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

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

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

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

2012

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

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

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503