Publications by the researcher in collaboration with Juan José Poza Aldea (44)

2024

  1. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  2. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

2023

  1. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

2020

  1. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

  2. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5

2018

  1. Clinical evidences supporting the Src/c-Abl pathway as potential therapeutic target in amyotrophic lateral sclerosis

    Journal of the Neurological Sciences

2016

  1. ALS: A bucket of genes, environment, metabolism and unknown ingredients

    Progress in Neurobiology, Vol. 142, pp. 104-129

  2. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

    Neurology, Vol. 87, Núm. 12, pp. 1250-1257

  3. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Neuromuscular Disorders, Vol. 26, Núm. 1, pp. 33-40

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2011

  1. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714

  2. Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

    Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031

2010

  1. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

    Psychological Medicine, Vol. 40, Núm. 3, pp. 487-495

2008

  1. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952

2006

  1. CAPN3 mutations in patients with idiopathic eosinophilic myositis

    Annals of Neurology, Vol. 59, Núm. 6, pp. 905-911

2005

  1. Análisis de la marcha en la enfermedad de Parkinson y su respuesta al tratamiento dopaminérgico

    Medicina Clinica, Vol. 124, Núm. 2, pp. 50-52

  2. Análisis de la marcha y del movimiento de las extremidades superiores en distrofias musculares

    Neurologia, Vol. 20, Núm. 7, pp. 341-348

  3. LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

    Brain, Vol. 128, Núm. 4, pp. 732-742

  4. Trimetazidine induces parkinsonism, gait disorders and tremor

    Therapie

2004

  1. A common haplotype associated with the Basque 2362AG → TCATCT mutation in the muscular calpain-3 gene

    Human Biology, Vol. 76, Núm. 5, pp. 731-741