Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL-Reference-Cited by-同舟云学术

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Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Published:2006-06-29 Issue:3 Volume:7 Page:185-194
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Annunen-Rasila Johanna,Finnilä Saara,Mykkänen Kati,Moilanen Jukka S.,Veijola Johanna,Pöyhönen Minna,Viitanen Matti,Kalimo Hannu,Majamaa Kari

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-006-0049-x.pdf

Reference46 articles.

1. Tournier-Lasserve E, Joutel A, Melki J et al (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3:256–259

2. Chabriat H, Vahedi K, Iba-Zizen MT et al (1995) Clinical spectrum of CADASIL: a study of 7 families. Lancet 346:934–939

3. Dichgans M, Mayer M, Uttner I et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44:731–739

4. Joutel A, Corpechot C, Ducros A et al (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707–710

5. Dotti MT, De Stefano N, Bianchi S et al (2004) A novel Notch3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. Arch Neurol 61:942–945

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1. What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?;Evolutionary Applications;2019-08-27

2. Lack of support for the time-dependent molecular evolution hypothesis;Molecular Ecology;2015-02

3. Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells;Experimental Cell Research;2013-02

4. mtDNA Data Mining in GenBank Needs Surveying;The American Journal of Human Genetics;2009-12

5. Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;Journal of Neurology;2009-06-02

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