International Forum of Allergy &Rhinology, Volume 15, Issue 7, Page 744-747, July 2025.
Jakob L. Fischer +12 more
wiley +1 more source
Mechanisms and effects of mitochondrial DNA instability and copy number manipulation [PDF]
, 2011 Defects in mitochondrial DNA (mtDNA) maintenance cause a range of human diseases, including autosomal dominant progressive external ophthalmoplegia (adPEO). This study aimed to clarify the molecular background of adPEO. We discovered that deoxynucleoside
Ylikallio, Emil
core
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]
, 2016 INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K +13 more
core +1 more source
Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy [PDF]
, 2015 Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM.
Bravo, Daniela Manzoli +6 more
core +2 more sources
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 [PDF]
, 2019 Objective : We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).
Anheim, M +35 more
core +1 more source
Mitochondrial DNA with a Large-Scale Deletion Causes Two Distinct Mitochondrial Disease Phenotypes in Mice [PDF]
, 2013 Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a ...
Hayashi Jun-Ichi +6 more
core +1 more source
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: Clinical, genetic and neuroradiological features [PDF]
, 2018 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction.
Benoist, J.F. +10 more
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OPA1 analysis in an international series of probands with bilateral optic atrophy [PDF]
, 2017 Purpose To determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada.
Adzhubei +59 more
core +1 more source
Chronic progressive external ophthalmoplegia [PDF]
, 1978 Contains fulltext : mmubn000001_025230352.pdf (Publisher’s version ) (Open Access)
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