Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

Item
http://www.wikidata.org/entity/Q37478828
Treatment of mitochondrial disorders.Transcriptome-wide co-expression analysis identifies LRRC2 as a novel mediator of mitochondrial and cardiac function.An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.Mitochondrial diseases: advances and issues.Mitochondrial dysfunction in central nervous system white matter disorders.Riboflavin Has Neuroprotective Potential: Focus on Parkinson's Disease and Migraine.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.Therapies for mitochondrial diseases and current clinical trials.Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Identification of the Catalytic Residue of Rat Acyl-CoA Dehydrogenase 9 by Site-Directed Mutagenesis.Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
P2860

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

Item
http://www.wikidata.org/entity/Q37478828
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@en
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@nl
type
label
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@en
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@nl
prefLabel
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@en
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9
@en
P2093
P2860
P304
P31
P356
10.1001/JAMANEUROL.2013.3197
P407
P433
P478
P50
P577
P5875
P698
P921
P932