Lista de obras - Reetta Hinttala - Dominio Público Uruguay

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

artículo científico publicado en 2017

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

artículo científico publicado en 2017

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

artículo científico publicado en 2014

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

scientific article published on 06 September 2007

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

artículo científico publicado en 2015

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli

artículo científico publicado en 2010

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

artículo científico publicado en 2006

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

scientific journal article

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease

scientific article published on 01 December 2018

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

artículo científico publicado en 2017

Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

artículo científico publicado en 2016

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

artículo científico publicado en 2017

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

artículo científico publicado en 2011

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

artículo científico publicado en 2015

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

artículo científico publicado en 2017

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

artículo científico publicado en 2021

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

artículo científico publicado en 2006

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

artículo científico publicado en 2018

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

artículo científico publicado en 2017

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

artículo científico publicado en 2010

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

artículo científico publicado en 2008

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

artículo científico publicado en 2005

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

artículo científico publicado en 2015

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

scientific article published in PLoS ONE

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

artículo científico publicado en 2006

Variants 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

scientific article published on 26 September 2018

Lista de obras de Reetta Hinttala

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Variants 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