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1 . Academic Journal
Elevated Prostaglandin E2 Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis
저자
by
Silvia Gartner
;
Jordi Roca-Ferrer
;
Paula Fernandez-Alvarez
;
Isabel Lima
;
Sandra Rovira-Amigo
, et al.
소스
Journal of Clinical Medicine, Vol 13, Iss 7, p 2050 (2024)
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7 . Academic Journal
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
저자
by
Ieva Keraite
;
Philipp Becker
;
Davide Canevazzi
;
Cristina Frias-López
;
Marc Dabad
, et al.
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Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
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7 . Academic Journal
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature
저자
by
Daniel Sánchez-Tejerina
;
Juan Luis Restrepo-Vera
;
Eulalia Rovira-Moreno
;
Marta Codina-Sola
;
Arnau Llauradó
, et al.
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Genes, Vol 13, Iss 8, p 1483 (2022)
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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.
소스
Antioxidants, Vol 11, Iss 4, p 741 (2022)
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7 . Academic Journal
Leigh syndrome associated with TRMU gene mutations
저자
by
Júlia Sala-Coromina
;
Lucía Dougherty-de Miguel
;
Javier de las Heras
;
Amaia Lasa-Aranzasti
;
Elena Garcia-Arumi
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)
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7 . Academic Journal
Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin
저자
by
Natividad Blasco
;
Yolanda Cámara
;
Estefanía Núñez
;
Aida Beà
;
Gisel Barés
, et al.
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Redox Biology, Vol 16, Iss , Pp 146-156 (2018)
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7 . Academic Journal
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
저자
by
Lidia Carreño-Gago
;
Diana Luz Juárez-Flores
;
Josep Maria Grau
;
Javier Ramón
;
Ester Lozano
, et al.
소스
Journal of Clinical Medicine, Vol 10, Iss 16, p 3471 (2021)
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7 . Academic Journal
microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases
저자
by
Salvador Meseguer
;
Olga Boix
;
Carmen Navarro-González
;
Magda Villarroya
;
Rachid Boutoual
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
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7 . Academic Journal
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
저자
by
Javier Ramón
;
Ferran Vila-Julià
;
David Molina-Granada
;
Miguel Molina-Berenguer
;
Maria Jesús Melià
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6447 (2021)
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7 . Academic Journal
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions
저자
by
Lidia Carreño-Gago
;
Cora Blázquez-Bermejo
;
Jordi Díaz-Manera
;
Yolanda Cámara
;
Eduard Gallardo
, et al.
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Frontiers in Genetics, Vol 10 (2019)
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