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Pediatric Neurology, ISSN 0887-8994, 01/2019, Volume 90, pp. 61 - 65
Autosomal recessive mutations in the nuclear Twinkle (C10orf2) gene cause a mitochondrial DNA depletion syndrome (MDS) characterized by early onset... 
PEO1 | Mitochondrial DNA depletion syndrome | mtDNA | TWINKLE | C10orf2 | Encephalopathy | Liver | Hepatocerebral syndrome | PEDIATRICS | MUTATIONS | C1 0orf2 | CLINICAL NEUROLOGY
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 02/2019, Volume 10, p. 39
Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA)... 
rare diseases | mitochondrial diseases | genetic mutations | DEFECTS | pediatric genetics | mitochondria | mitochondrial DNA (mtDNA) | GENETICS & HEREDITY | mitochondrial fusion | FBXL4 | FAMILY | Ubiquitin | Mitochondrial DNA | Genetic disorders | Research | Gene mutations
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2004, Volume 55, Issue 5, pp. 706 - 712
Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA... 
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | THYMIDINE KINASE | NEURONAL DEGENERATION | GENE | POLYMERASE-GAMMA | DISEASE | MTDNA DEPLETION | DELETIONS | CHILDHOOD | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY
Journal Article
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 09/2013, Volume 40, Issue 5, pp. 635 - 644
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2009, Volume 32, Issue 2, pp. 143 - 158
Journal Article
Neurotherapeutics, ISSN 1933-7213, 4/2013, Volume 10, Issue 2, pp. 186 - 198
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | POLYMERASE-GAMMA-A | CORRECTS BIOCHEMICAL DERANGEMENTS | ONSET SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN DEFICIENCY | MULTIPLE MTDNA DELETIONS | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | ALPERS-SYNDROME | PHARMACOLOGY & PHARMACY | DEOXYGUANOSINE KINASE-DEFICIENCY | STEM-CELL TRANSPLANTATION | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Review
Journal Article
Mechanisms of Ageing and Development, ISSN 0047-6374, 10/2017, Volume 167, pp. 24 - 29
Alzheimer's disease (AD) may be associated with mitochondrial defects. The aim of the present study was to investigate changes in mitochondrial abundance in... 
Mitochondria | Alzheimer’s disease | Lymphocytes | mtDNA | Mitochondrial depletion
Journal Article