Reetta L. Hinttala

Oulu, Finland

Last Updated: 09/26/2026

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Found 47 publications

Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction.

Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction.

Journal: Neuromuscular disorders : NMD

Published: October 30, 2025

A quality framework for cryopreserved rodent disease models: INFRAFRONTIER quality principles in EMMA archiving and distribution.

A quality framework for cryopreserved rodent disease models: INFRAFRONTIER quality principles in EMMA archiving and distribution.

Journal: Mammalian genome : official journal of the International Mammalian Genome Society

Published: August 01, 2025

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.

Journal: Neurology. Genetics

Published: March 25, 2025

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

Journal: The FEBS journal

Published: March 03, 2025

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 27, 2024

Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

Journal: Mitochondrion

Published: September 24, 2024

Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.

Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.

Journal: Brain, behavior, & immunity - health

Published: September 16, 2024

Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function.

Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function.

Journal: RSC advances

Published: July 30, 2024

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.

Journal: Frontiers in molecular neuroscience

Published: January 18, 2024

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Journal: Movement disorders clinical practice

Published: October 17, 2023

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

Journal: The Journal of clinical investigation

Published: July 03, 2023

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Journal: Clinical genetics

Published: June 06, 2023

Showing 1-12 of 47

Last Updated: 09/26/2026