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Annals of Neurology
|
March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Scientific Reports
|
January 30, 2019
Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditions
Raquel Montero, Delia Yubero, Maria C Salgado, et al.
Mitochondrion
|
December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Xènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
Clinical Chemistry
|
August 5, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
Selena Trifunov, Abraham J Paredes-Fuentes, Carmen Badosa, et al.
Orphanet Journal of Rare Diseases
|
December 26, 2014
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Pilar Quijada-Fraile, Mar O'Callaghan, Elena Martín-Hernández, 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.
International Journal of Molecular Sciences
|
February 23, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, 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.
Plos One
|
February 12, 2016
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
Raquel Montero, Delia Yubero, Joan Villarroya, et al.
Scientific Reports
|
June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
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Search research articles
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Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
Annals of Neurology
|
March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Scientific Reports
|
January 30, 2019
Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditions
Raquel Montero, Delia Yubero, Maria C Salgado, et al.
Mitochondrion
|
December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Xènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
Clinical Chemistry
|
August 5, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
Selena Trifunov, Abraham J Paredes-Fuentes, Carmen Badosa, et al.
Orphanet Journal of Rare Diseases
|
December 26, 2014
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Pilar Quijada-Fraile, Mar O'Callaghan, Elena Martín-Hernández, 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.
International Journal of Molecular Sciences
|
February 23, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, 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.
Plos One
|
February 12, 2016
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
Raquel Montero, Delia Yubero, Joan Villarroya, et al.
Scientific Reports
|
June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
Page
of 6