Publicacións nas que colabora con María Jesús Sobrido Gómez (57)
2023
-
Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
Frontiers in Molecular Neuroscience, Vol. 16
2022
-
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
-
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34
-
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
-
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
-
Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
Cerebellum, Vol. 19, Núm. 4, pp. 501-509
-
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
-
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Cell Reports, Vol. 31, Núm. 5
2019
-
Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019) 104(4) (767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001))
American Journal of Human Genetics
-
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773
2018
-
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
-
Primary familial brain calcifications
Handbook of Clinical Neurology (Elsevier B.V.), pp. 307-317
2017
-
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103
-
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
-
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
-
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
-
La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»
Neurologia
-
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
Movement Disorders, Vol. 32, Núm. 2, pp. 264-273
-
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539
-
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