Browsing by Author "García Arumí, Elena"
Now showing items 1-7 of 7
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A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
Keraite, Ieva; Becker, Philipp; Canevazzi, Davide; Frías-López, Cristina; Dabad, Marc; Tonda, Raul; Leno Colorado, Jorge; Abulí Vidal, Anna; García Arumí, Elena (Nature Portfolio, 2022-10-06) -
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature
Sánchez-Tejerina San José, Daniel; Restrepo Vera, Juan Luis; Rovira Moreno, Eulàlia; Codina Solà, Marta; Llauradó Gayete, Arnau; Sotoca Fernández, Javier; Salvadó Figueras, Maria; Raguer Sanz, Nuria; García Arumí, Elena; Juntas Morales, Raul (MDPI, 2022-08-19) -
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions
Carreño Gago, Lidia; Blazquez Bermejo, Cora; Díaz-Manera, Jordi; Cámara Navarro, Yolanda; Gallardo, Eduard; Martí Seves, Ramón; Torres Torronteras, Javier; García Arumí, Elena (Frontiers Media, 2019-06-14) -
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Domínguez-Gonzalez, C.; Hernández-Laín, Aurelio; Rivas, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; García Arumí, Elena (BMC, 2019-05-06) -
Leigh syndrome associated with TRMU gene mutations
Sala Coromina, Julia; Dougherty-de Miguel, Lucia; de las Heras, Javier; Lasa Aranzasti, Amaia; García Arumí, Elena; Carreño Gago, Lidia; Arranz Amo, José Antonio; Carnicer Cáceres, Clara; Sánchez-Montáñez García-Carpintero, Ángel; del Toro Riera, Mireia (Elsevier, 2021-03) -
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
Ramon Pasías, Javier Francisco; Vila Julià, Ferran; Molina Granada, David; Molina Berenguer, Miquel; Melia Grimal, Mª Jesus; García Arumí, Elena; Torres Torronteras, Javier; Cámara Navarro, Yolanda; Martí Seves, Ramón (MDPI, 2021-06) -
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
Carreño Gago, Lidia; Juárez-Flores, DL; Grau, Josep Maria; Ramon Pasías, Javier Francisco; Lozano, Ester; Vila Julià, Ferran; Martí Seves, Ramón; Garrabou, Gloria; García Arumí, Elena (MDPI, 2021-08)