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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 9, 2019
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblastsCora Blázquez-Bermejo, Lidia Carreño-Gago, David Molina-Granada, et al.
Journal of Immunology (Baltimore, Md. : 1950)|July 13, 2014
Cell cycle control and HIV-1 susceptibility are linked by CDK6-dependent CDK2 phosphorylation of SAMHD1 in myeloid and lymphoid cellsEduardo Pauls, Alba Ruiz, Roger Badia, et al.
Plos Genetics|January 14, 2016
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaIlaria Dalla Rosa, Yolanda Cámara, Romina Durigon, et al.
Orphanet Journal of Rare Diseases|October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
Neurology. Genetics|March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 DeficiencyFrancisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Molecular Therapy. Methods & Clinical Development|April 25, 2018
Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIERana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
Scientific Reports|June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyCristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, 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.
Neurology. Genetics|March 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in <i>POLG</i>-Related Mitochondrial DiseaseLaura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez, et al.
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