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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in InfancyEvaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data.POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.Structural analysis of human NHLRC2, mutations of which are associated with FINCA diseaseAlexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP geneAnalysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coliIntractable Epilepsy due to MTR Deficiency: Importance of Homocysteine AnalysisBiallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA diseaseVariants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy
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description
researcher ORCID ID = 0000-0002-7642-4008
@en
wetenschapper
@nl
name
Reetta Hinttala
@ast
Reetta Hinttala
@en
Reetta Hinttala
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Reetta Hinttala
@nl
type
label
Reetta Hinttala
@ast
Reetta Hinttala
@en
Reetta Hinttala
@es
Reetta Hinttala
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prefLabel
Reetta Hinttala
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Reetta Hinttala
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Reetta Hinttala
@es
Reetta Hinttala
@nl
P31
P496
0000-0002-7642-4008