Compound heterozygote mutations inSPG7in a family with adult-onset primary lateral sclerosis-Reference-Cited by-同舟云学术

Compound heterozygote mutations inSPG7in a family with adult-onset primary lateral sclerosis

Published:2016-03-03 Issue:2 Volume:2 Page:e60
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Yang Yi,Zhang Lei,Lynch David R.,Lukas Thomas,Ahmeti Kreshnik,Sleiman Patrick M.A.,Ryan Eanna,Schadt Kimberly A.,Newman Jordan H.,Deng Han-Xiang,Siddique Nailah,Siddique Teepu

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Reference7 articles.

1. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

2. Mitochondrial metabolism contributes to oxidative stress and reveals therapeutic targets in chronic lymphocytic leukemia

3. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

4. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

5. SPG7 mutations are a common cause of undiagnosed ataxia

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