Associated Papers
Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.
İpek R et al.
Genes, 2025
Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.
Pande S et al.
Molecular Genetics and Genomics : Mgg, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Samanta A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2023
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
30273399 (PubMed )
Supplement: pone.0205014.s003.doc
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.
Pyal A et al.
Mitochondrion, 2017
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR et al.
Bmc Neurology, 2015
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
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