Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2-Reference-Cited by-同舟云学术

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

Published:2011-01-22 Issue:7 Volume:258 Page:1234-1239
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

McCorquodale Donald S.,Montenegro Gladys,Peguero Ainsley,Carlson Nicole,Speziani Fiorella,Price Justin,Taylor Sean W.,Melanson Michel,Vance Jeffery M.,Züchner Stephan

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-011-5910-7.pdf

Reference19 articles.

1. Braathen GJ, Sand JC, Lobato A, Hoyer H and Russell MB (2010) Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 18(1):39–48

2. Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB (2010) MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. BMC Med Genet 11:48

3. Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carriere JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C (2009) Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 66:1511–1516

4. Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martinez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249–256

5. Chung KW, Cho SY, Hwang SJ, Kim KH, Yoo JH, Kwon O, Kim SM, Sunwoo IN, Zuchner S, Choi BO (2008) Early-onset stroke associated with a mutation in mitofusin 2. Neurology 70:2010–2011

Cited by 33 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. An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review;Gene;2023-10

2. A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing;International Journal of Neuroscience;2023-09-15

3. The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology;Frontiers in Cell and Developmental Biology;2022-03-24

4. Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities;Neurotherapeutics;2021-10

5. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease;Frontiers in Cell and Developmental Biology;2021-02-01