Show
Sort by
-
- Journal Article
- A1
- open access
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
-
- Journal Article
- A1
- open access
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
-
- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
-
- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
-
Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue : a preliminary study
-
- Journal Article
- A1
- open access
A critical assessment of the therapeutic potential of resveratrol supplements for treating mitochondrial disorders
-
- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
-
- Journal Article
- A1
- open access
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism
-
- Journal Article
- A1
- open access
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
-
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients