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Journal of Medical Genetics
|
December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
The American Journal of Pathology
|
May 23, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
Ana Carrasco-Rozas, Esther Fernández-Simón, Xavier Suárez-Calvet, et al.
Journal of Clinical Medicine
|
January 11, 2022
Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics
Antonio Martínez-Ortega, Álvaro Flores-Martinez, Eva Venegas-Moreno, et al.
British Journal of Pharmacology
|
July 4, 2012
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease
Juan Garrido-Maraver, Mario D Cordero, Irene Domínguez Moñino, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Orphanet Journal of Rare Diseases
|
October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, et al.
EMBO Molecular Medicine
|
November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
Neuropathology and Applied Neurobiology
|
February 12, 2024
Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain
Ana M Espinosa-Oliva, Rocío Ruiz, Manuel Sarmiento Soto, et al.
Cell Reports
|
October 17, 2019
TET2 Regulates the Neuroinflammatory Response in Microglia
Alejandro Carrillo-Jimenez, Özgen Deniz, Maria Victoria Niklison-Chirou, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
Journal of Medical Genetics
|
December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
The American Journal of Pathology
|
May 23, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
Ana Carrasco-Rozas, Esther Fernández-Simón, Xavier Suárez-Calvet, et al.
Journal of Clinical Medicine
|
January 11, 2022
Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics
Antonio Martínez-Ortega, Álvaro Flores-Martinez, Eva Venegas-Moreno, et al.
British Journal of Pharmacology
|
July 4, 2012
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease
Juan Garrido-Maraver, Mario D Cordero, Irene Domínguez Moñino, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Orphanet Journal of Rare Diseases
|
October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, et al.
EMBO Molecular Medicine
|
November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
Neuropathology and Applied Neurobiology
|
February 12, 2024
Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain
Ana M Espinosa-Oliva, Rocío Ruiz, Manuel Sarmiento Soto, et al.
Cell Reports
|
October 17, 2019
TET2 Regulates the Neuroinflammatory Response in Microglia
Alejandro Carrillo-Jimenez, Özgen Deniz, Maria Victoria Niklison-Chirou, et al.
Page
of 6