Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene.
A Ababneh N et al.
Stem Cell Research, 2024
Severe Dry Eye Disease in Charcot-Marie-Tooth Disease: A Comprehensive Case Report.
Aldihan KA et al.
The American Journal of Case Reports, 2023
Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Corrà S et al.
Iscience, 2023
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
A Drosophila model of the neurological symptoms in Mpv17-related diseases.
Kodani A et al.
Scientific Reports, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan.
Ababneh NA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT et al.
The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2021
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M et al.
Current Opinion in Neurology, 2019
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Baumann M et al.
Clinical Genetics, 2019
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
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR et al.
Bmc Neurology, 2015
MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy.
Mundlamuri RC et al.
Neurology India, 0