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Genes|October 27, 2022
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, et al.
Journal of Neurology|July 5, 2011
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegiaElena Sánchez-Ferrero, Eliecer Coto, Ana I Corao, et al.
Plos One|December 30, 2015
Time Trends in Ischemic Stroke among Type 2 Diabetic and Non-Diabetic Patients: Analysis of the Spanish National Hospital Discharge Data (2003-2012)Nuria Muñoz-Rivas, Manuel Méndez-Bailón, Valentín Hernández-Barrera, et al.
Biomedicines|February 24, 2024
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish PopulationDaniel Borrego-Hernández, Juan Francisco Vázquez-Costa, Raúl Domínguez-Rubio, et al.
European Journal of Neurology|December 9, 2022
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the diseaseJuan F Vázquez-Costa, Daniel Borrego-Hernández, Carmen Paradas, et al.
BMC Neurology|October 12, 2010
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegiaVictoria Alvarez, Elena Sánchez-Ferrero, Christian Beetz, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
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 mutationOriol Dols-Icardo, Alberto García-Redondo, Ricardo Rojas-García, et al.
Orphanet Journal of Rare Diseases|May 8, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 casesCristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, et al.
Aging and Disease|April 24, 2019
Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral SclerosisAna C Calvo, Gabriela Atencia Cibreiro, Paz Torre Merino, et al.
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