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American Journal of Medical Genetics. Part A
|
March 15, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al.
Genes
|
May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
International Journal of Molecular Sciences
|
October 14, 2022
Pathological Features in Paediatric Patients with TK2 Deficiency
Cristina Jou, Andres Nascimento, Anna Codina, et al.
BMC Genomics
|
February 4, 2014
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
Susana Graciela Kalko, Sonia Paco, Cristina Jou, et al.
The FEBS Journal
|
January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
Mekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Biorxiv : the Preprint Server for Biology
|
June 21, 2024
Effects of HMGCR deficiency on skeletal muscle development
Mekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
European Journal of Human Genetics : EJHG
|
September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.
Journal of Clinical Medicine
|
January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Cristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Journal of Neurology
|
April 9, 2025
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies
Laura Carrera-García, Jessica Expósito-Escudero, Nancy Carolina Ñungo Garzón, et al.
EMBO Molecular Medicine
|
September 12, 2018
<i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
Kyle Thompson, Nicole Mai, Monika Oláhová, et al.
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of 6
Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
March 15, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al.
Genes
|
May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
International Journal of Molecular Sciences
|
October 14, 2022
Pathological Features in Paediatric Patients with TK2 Deficiency
Cristina Jou, Andres Nascimento, Anna Codina, et al.
BMC Genomics
|
February 4, 2014
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
Susana Graciela Kalko, Sonia Paco, Cristina Jou, et al.
The FEBS Journal
|
January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
Mekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Biorxiv : the Preprint Server for Biology
|
June 21, 2024
Effects of HMGCR deficiency on skeletal muscle development
Mekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
European Journal of Human Genetics : EJHG
|
September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.
Journal of Clinical Medicine
|
January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Cristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Journal of Neurology
|
April 9, 2025
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies
Laura Carrera-García, Jessica Expósito-Escudero, Nancy Carolina Ñungo Garzón, et al.
EMBO Molecular Medicine
|
September 12, 2018
<i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
Kyle Thompson, Nicole Mai, Monika Oláhová, et al.
Page
of 6