Publicaciones (45) Publicaciones de ALBERTO GARCÍA REDONDO

2024

  1. Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

    Biomedicines, Vol. 12, Núm. 2

2023

  1. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

    European Journal of Neurology, Vol. 30, Núm. 4, pp. 861-871

  2. Estudio de ELA-SOD1 en España

    Investigaciones DACIU 2022-2023: Una publicación que refleja los trabajos realizados por los participantes en el programa DACIU en su primera edición (Avanza), pp. 63-72

  3. Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts

    International Journal of Molecular Sciences, Vol. 24, Núm. 3

  4. The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis

    Molecular Neurobiology, Vol. 60, Núm. 9, pp. 5034-5054

2022

  1. ATXN2 intermediate expansions in amyotrophic lateral sclerosis

    Brain : a journal of neurology, Vol. 145, Núm. 8, pp. 2671-2676

  2. Clinical trials in pediatric ALS: a TRICALS feasibility study

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 7-8, pp. 481-488

2021

  1. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    JAMA Neurology, Vol. 78, Núm. 10, pp. 1236-1248

  2. Cdse quantum dots in human models derived from als patients: Characterization, nuclear penetration studies and multiplexing

    Nanomaterials, Vol. 11, Núm. 3, pp. 1-15

  3. Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 22, Núm. 7-8, pp. 552-560

  4. Molecular alterations in sporadic and sod1-als immortalized lymphocytes: Towards a personalized therapy

    International Journal of Molecular Sciences, Vol. 22, Núm. 6, pp. 1-17

  5. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Neuron, Vol. 109, Núm. 3, pp. 448-460.e4

2020

  1. Type XIX collagen: A promising biomarker from the basement membranes

    Neural Regeneration Research, Vol. 15, Núm. 6, pp. 988-995

2019

  1. Circulating cytokines could not be good prognostic biomarkers in a mouse model of amyotrophic lateral sclerosis

    Frontiers in Immunology, Vol. 10, Núm. APR

2018

  1. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 2, pp. 162-168

  2. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Neuron, Vol. 97, Núm. 6, pp. 1268-1283.e6

  3. Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature

    Neurocase, Vol. 24, Núm. 1, pp. 68-71

  4. TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

    Neurocase, Vol. 24, Núm. 5-6, pp. 301-305

2017

  1. Age-Associated differences in hematopoietic stem and progenitor cells of mice

    Comparative Medicine, Vol. 67, Núm. 1, pp. 22-27

  2. Comparative study of hematopoietic stem and progenitor cells between sexes in mice under physiological conditions along time

    Cell Biology International, Vol. 41, Núm. 12, pp. 1399-1405