Works by Hinttala, Reetta
Results: 28
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884
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- Publication type:
- Article
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
- Published in:
- 2017
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- Publication type:
- journal article
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
- Published in:
- Molecular Medicine, 2020, v. 26, n. 1, p. 1, doi. 10.1186/s10020-020-00245-4
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- Publication type:
- Article
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1372662
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- Publication type:
- Article
Transmembrane Prolyl 4-Hydroxylase is a Novel Regulator of Calcium Signaling in Astrocytes.
- Published in:
- eNeuro, 2021, v. 8, n. 1, p. 1, doi. 10.1523/ENEURO.0253-20.2020
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- Publication type:
- Article
Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3158, doi. 10.3390/cells10113158
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- Publication type:
- Article
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176
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- Publication type:
- Article
Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
- Published in:
- Molecular Neurodegeneration, 2010, v. 5, p. 1, doi. 10.1186/1750-1326-5-8
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- Publication type:
- Article
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x
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- Publication type:
- Article
NHLRC2 expression is increased in idiopathic pulmonary fibrosis.
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- 2022
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- Publication type:
- journal article
Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.
- Published in:
- Audiology Research, 2017, v. 7, n. 2, p. 56, doi. 10.4081/audiores.2017.189
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- Publication type:
- Article
Secondary metabolic effects in complex I deficiency.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 544
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- Publication type:
- Article
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
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- Publication type:
- Article
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
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- Publication type:
- Article
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
- Published in:
- 2007
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- Publication type:
- Letter
Analysis of human brain tissue derived from DBS surgery.
- Published in:
- Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00297-y
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- Publication type:
- Article
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
- Published in:
- Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
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- Publication type:
- Article
Nhlrc2 is crucial during mouse gastrulation.
- Published in:
- Genesis: The Journal of Genetics & Development, 2022, v. 60, n. 3, p. 1, doi. 10.1002/dvg.23470
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- Publication type:
- Article
Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.
- Published in:
- Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112
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- Publication type:
- Article
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
- Published in:
- BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
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- Publication type:
- Article
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149
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- Publication type:
- Article
INFRAFRONTIER quality principles in systemic phenotyping.
- Published in:
- Mammalian Genome, 2022, v. 33, n. 1, p. 120, doi. 10.1007/s00335-021-09892-2
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- Publication type:
- Article
Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 10, p. 786, doi. 10.1007/s00109-005-0712-y
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- Publication type:
- Article
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.
- Published in:
- PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0202391
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- Publication type:
- Article
TT2020 meeting report on the 16th Transgenic Technology Meeting.
- Published in:
- Transgenic Research, 2021, v. 30, n. 1, p. 121, doi. 10.1007/s11248-020-00231-w
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- Publication type:
- Article
Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.
- Published in:
- Developmental Medicine & Child Neurology, 2025, v. 67, n. 2, p. 186, doi. 10.1111/dmcn.16036
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- Publication type:
- Article
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.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
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- Publication type:
- Article
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8
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- Publication type:
- Article