Showing results (11-20 of 66) with videos related to
Sort By:
Pageof 7
Neurogenetics|January 20, 2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growthPirjo Isohanni, Christopher J Carroll, Christopher B Jackson, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 2, 2021
Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of childrenJuho Aaltio, Virva Hyttinen, Mika Kortelainen, et al.Pediatric Research|March 29, 2012
Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutationAlexandra Götz, Pirjo Isohanni, Brita Liljeström, et al.European Journal of Human Genetics : EJHG|July 3, 2014
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletionSanna Matilainen, Pirjo Isohanni, Liliya Euro, et al.Human Molecular Genetics|June 25, 2017
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndromeSanna Matilainen, Christopher J Carroll, Uwe Richter, et al.Neuromuscular Disorders : NMD|August 22, 2024
Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiencyJuho Aaltio, Liliya Euro, Olli Tynninen, et al.Brain : a Journal of Neurology|September 30, 2008
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndromeAlexandra Götz, Pirjo Isohanni, Helena Pihko, et al.Journal of Neuromuscular Diseases|February 20, 2025
Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot studyVilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, et al.EMBO Molecular Medicine|November 8, 2017
A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regionsJoni Nikkanen, Juan Cruz Landoni, Diego Balboa, et al.Annals of Clinical and Translational Neurology|July 8, 2020
Using urine to diagnose large-scale mtDNA deletions in adult patientsKristin N Varhaug, Gonzalo S Nido, Irenaeus de Coo, et al.Pageof 7