Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene-Reference-Cited by-同舟云学术

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene

Published:2006-01 Issue:1 Volume:16 Page:26-31
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Cardaioli Elena,Pozzo Paola Da,Cerase Alfonso,Sicurelli Francesco,Malandrini Alessandro,Stefano Nicola De,Stromillo Maria Laura,Battisti Carla,Dotti Maria Teresa,Federico Antonio

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference32 articles.

1. Mutations in mtDNA: are we scraping the bottom of the barrel?;Di Mauro;Brain Pathol,2000

2. The clinical features of mitochondrial myopathy;Petty;Brain,1986

3. Audiologic findings in a family with mitochondrial disorder;Elverland;Am J Otolaryngol,1991

4. Mitochondrial defects and hearing loss;Hutchin;Cell Mol Life Sci,2000

5. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene;Tiranti;Hum Mol Genet,1995

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study;Frontiers in Cell and Developmental Biology;2024-02-23

2. The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review;Life;2023-02-16

3. Anti-NMDA receptor encephalitis with “Hockey stick sign” mimicking CJD;Neurological Sciences;2022-10-17

4. Neuroradiology of human prion diseases, diagnosis and differential diagnosis;La radiologia medica;2017-01-21

5. Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals;Annals of Human Genetics;2016-08-17