Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland-Reference-Cited by-同舟云学术

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Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Published:2013-03-03 Issue:2 Volume:14 Page:123-132
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Auranen Mari,Ylikallio Emil,Toppila Jussi,Somer Mirja,Kiuru-Enari Sari,Tyynismaa Henna

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0358-9.pdf

Reference27 articles.

1. Patzko A, Shy ME (2011) Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 11(1):78–88

2. Szigeti K, Lupski JR (2009) Charcot-Marie-Tooth disease. Eur J Hum Genet 17(6):703–710

3. Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB (2011) Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 18(1):39–48

4. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME (2011) Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 69(1):22–33

5. Zuchner S, Mersiyanova IV, Muglia M et al (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36(5):449–451

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2. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects;Journal of Genetic Engineering and Biotechnology;2023-12

3. 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

4. Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response;Cell Death Discovery;2023-07-01

5. Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report;Frontiers in Neurology;2022-10-24

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