María Jesús
Sobrido Gómez
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (37)
2022
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186
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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
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
Cerebellum, Vol. 19, Núm. 4, pp. 501-509
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Cell Reports, Vol. 31, Núm. 5
2019
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773
2017
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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
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Brain calcifications and PCDH12 variants
Neurology: Genetics, Vol. 3, Núm. 4
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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
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La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»
Neurologia
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PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
Movement Disorders, Vol. 32, Núm. 2, pp. 264-273
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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
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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
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Transfer of genetic therapy across human populations: Molecular targets for increasing patient coverage in repeat expansion diseases
European Journal of Human Genetics, Vol. 24, Núm. 2, pp. 271-276
2015
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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Cerebellum
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, Vol. 47, Núm. 6, pp. 579-581
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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
2014
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Automated semantic annotation of rare disease cases: A case study
Database, Vol. 2014