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1 . Academic Journal
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene
저자
by
Marta García-López
;
Lydia Jiménez-Vicente
;
Raquel González-Jabardo
;
Helena Dorado
;
Irene Gómez-Manjón
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 13, p 7240 (2024)
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7 . Academic Journal
Early Bronze Age violence in Ojo Guareña (Merindad de Sotoscueva, Burgos, Spain). Perimortem modifications in two male individuals
저자
by
Borja González-Rabanal
;
Ana B. Marín-Arroyo
;
Marco Vidal-Cordasco
;
Miguel Ángel Martín
;
Ana Isabel Ortega
.
소스
Quaternary Science Advances, Vol 12, Iss , Pp 100120- (2023)
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7 . Academic Journal
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
저자
by
Miguel Fernández de la Torre
;
Carmen Fiuza-Luces
;
Sara Laine-Menéndez
;
Aitor Delmiro
;
Joaquín Arenas
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10973 (2023)
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7 . Academic Journal
Psychological Implicit Motives Construct as an Emergent Fractal Attractor from Intermittent Neurophysiological Responses: Simulation and Entropy-like Characterization
저자
by
Miguel Ángel Martín
;
Celia Vara
;
Carlos García-Gutiérrez
.
소스
Entropy, Vol 25, Iss 5, p 711 (2023)
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5 . Academic Journal
Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
저자
by
Marcello Bellusci
;
Maria Teresa García‐Silva
;
Ana Martínez de Aragón
;
Miguel Angel Martín
.
소스
JIMD Reports, Vol 62, Iss 1, Pp 3-5 (2021)
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6 . Academic Journal
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
저자
by
Cristina Domínguez-González
;
Aurelio Hernández-Laín
;
Eloy Rivas
;
Ana Hernández-Voth
;
Javier Sayas Catalán
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
저자
by
Nuria Bujan
;
Constanza Morén
;
Francesc J. García-García
;
Alberto Blázquez
;
Clara Carnicer
, et al.
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Antioxidants, Vol 11, Iss 4, p 741 (2022)
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7 . Academic Journal
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
저자
by
Carlos Pablo de Fuenmayor-Fernández de la Hoz
;
Germán Morís
;
Cecilia Jiménez-Mallebrera
;
Carmen Badosa
;
Aurelio Hernández-Laín
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100701- (2021)
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7 . Academic Journal
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects
저자
by
Sara Laine-Menéndez
;
Miguel Fernández-de la Torre
;
Carmen Fiuza-Luces
;
Aitor Delmiro
;
Joaquín Arenas
, et al.
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Antioxidants, Vol 11, Iss 3, p 510 (2022)
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7 . Academic Journal
Absence of p.R50X Pygm read-through in McArdle disease cellular models
저자
by
Guillermo Tarrasó
;
Alberto Real-Martinez
;
Marta Parés
;
Lídia Romero-Cortadellas
;
Laura Puigros
, et al.
소스
Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
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