Publicacións (106) Publicacións de María Jesús Sobrido Gómez

2023

  1. SPG-46 spastic paraparesis due to GBA2 mutation: Description of the first case in Spain

    Neurologia

  2. Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation

    Frontiers in Molecular Neuroscience, Vol. 16

2022

  1. A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

    Biomedicines, Vol. 10, Núm. 8

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

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

  3. 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

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

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

  5. 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

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

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

  2. Zebrafish Models of Autosomal Dominant Ataxias

    Cells, Vol. 10, Núm. 2

  3. Zebrafish Models of Autosomal Recessive Ataxias

    Cells, Vol. 10, Núm. 4

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

  4. 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

2019

  1. A note on rotigotine for restless legs syndrome after renal transplantation

    Movement Disorders

  2. 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

  3. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  4. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773

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