ALBERTO
GARCÍA REDONDO
Profesor asociado
Publications (45) Publications de ALBERTO GARCÍA REDONDO
2024
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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Biomedicines, Vol. 12, Núm. 2
2023
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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
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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
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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
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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
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ATXN2 intermediate expansions in amyotrophic lateral sclerosis
Brain : a journal of neurology, Vol. 145, Núm. 8, pp. 2671-2676
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Clinical trials in pediatric ALS: a TRICALS feasibility study
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 7-8, pp. 481-488
2021
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Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
JAMA Neurology, Vol. 78, Núm. 10, pp. 1236-1248
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Cdse quantum dots in human models derived from als patients: Characterization, nuclear penetration studies and multiplexing
Nanomaterials, Vol. 11, Núm. 3, pp. 1-15
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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
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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
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Neuron, Vol. 109, Núm. 3, pp. 448-460.e4
2020
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Type XIX collagen: A promising biomarker from the basement membranes
Neural Regeneration Research, Vol. 15, Núm. 6, pp. 988-995
2019
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Circulating cytokines could not be good prognostic biomarkers in a mouse model of amyotrophic lateral sclerosis
Frontiers in Immunology, Vol. 10, Núm. APR
2018
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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
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Neuron, Vol. 97, Núm. 6, pp. 1268-1283.e6
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Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature
Neurocase, Vol. 24, Núm. 1, pp. 68-71
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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
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Age-Associated differences in hematopoietic stem and progenitor cells of mice
Comparative Medicine, Vol. 67, Núm. 1, pp. 22-27
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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