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Journal of Clinical Medicine
|
April 1, 2020
Physiopathological Bases of the Disease Caused by <i>HACE1</i> Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response
Olatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
July 15, 2015
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons
Leslie Matalonga, Ángela Arias, Frederic Tort, et al.
International Journal of Molecular Sciences
|
August 12, 2023
Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations
Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, et al.
Journal of Clinical Medicine
|
March 25, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, et al.
Blood
|
January 5, 2002
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances
Emma Camacho, Luis Hernández, Silvia Hernández, et al.
Clinical Genetics
|
November 15, 2018
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts
Judit García-Villoria, Begoña De Azua, Frederic Tort, et al.
The Journal of Pathology
|
February 3, 2005
Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms
Joaquim Carreras, Neus Villamor, Lluís Colomo, et al.
Nature
|
April 15, 2005
DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis
Jirina Bartkova, Zuzana Horejsí, Karen Koed, et al.
Molecular Therapy. Methods & Clinical Development
|
July 10, 2024
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, et al.
Journal of Inherited Metabolic Disease
|
September 18, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 47) with videos related to
Sort By:
Page
of 5
Journal of Clinical Medicine
|
April 1, 2020
Physiopathological Bases of the Disease Caused by <i>HACE1</i> Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response
Olatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
July 15, 2015
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons
Leslie Matalonga, Ángela Arias, Frederic Tort, et al.
International Journal of Molecular Sciences
|
August 12, 2023
Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations
Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, et al.
Journal of Clinical Medicine
|
March 25, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, et al.
Blood
|
January 5, 2002
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances
Emma Camacho, Luis Hernández, Silvia Hernández, et al.
Clinical Genetics
|
November 15, 2018
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts
Judit García-Villoria, Begoña De Azua, Frederic Tort, et al.
The Journal of Pathology
|
February 3, 2005
Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms
Joaquim Carreras, Neus Villamor, Lluís Colomo, et al.
Nature
|
April 15, 2005
DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis
Jirina Bartkova, Zuzana Horejsí, Karen Koed, et al.
Molecular Therapy. Methods & Clinical Development
|
July 10, 2024
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, et al.
Journal of Inherited Metabolic Disease
|
September 18, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach, et al.
Page
of 5