The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?-Reference-Cited by-同舟云学术

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Published:2013-12-29 Issue:3 Volume:261 Page:504-510
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Mancuso Michelangelo,Orsucci Daniele,Angelini Corrado,Bertini Enrico,Carelli Valerio,Comi Giacomo Pietro,Donati Alice,Minetti Carlo,Moggio Maurizio,Mongini Tiziana,Servidei Serenella,Tonin Paola,Toscano Antonio,Uziel Graziella,Bruno Claudio,Ienco Elena Caldarazzo,Filosto Massimiliano,Lamperti Costanza,Catteruccia Michela,Moroni Isabella,Musumeci Olimpia,Pegoraro Elena,Ronchi Dario,Santorelli Filippo Maria,Sauchelli Donato,Scarpelli Mauro,Sciacco Monica,Valentino Maria Lucia,Vercelli Liliana,Zeviani Massimo,Siciliano Gabriele

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-013-7225-3.pdf

Reference15 articles.

1. Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R (2013) The UK MRC mitochondrial disease patient cohort study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management. J Neurol Neurosurg Psychiatry 84:936–938

2. Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC (2009) Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol 66:85–91

3. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59:1406–1411

4. Mancuso M, Orsucci D, Angelini CI, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G (2013) Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation. Neurology 80:2049–2054

5. Mancuso M, Orsucci D, Coppede F, Nesti C, Choub A, Siciliano G (2009) Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. Curr Mol Med 9:1095–1107

Cited by 114 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. Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management;Progress in Retinal and Eye Research;2024-07

2. Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology;International Journal of Molecular Sciences;2024-04-23

3. The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity;Journal of Neuromuscular Diseases;2024-01-02

4. Stroke-Like Episodes in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS);Stroke Genetics;2024

5. Identification of eight genomic protective alleles for mitochondrial diabetes by Kinship‐graph convolutional network;Journal of Diabetes Investigation;2023-12-29