Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing-Reference-Cited by-同舟云学术

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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Published:2016-06 Issue:6 Volume:18 Page:600-607
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kancheva Daliya,Atkinson Derek,De Rijk Peter,Zimon Magdalena,Chamova Teodora,Mitev Vanyo,Yaramis Ahmet,Maria Fabrizi Gian,Topaloglu Haluk,Tournev Ivailo,Parma Yesim,Battaloglu Esra,Estrada-Cuzcano Alejandro,Jordanova Albena

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2015139.pdf

Reference33 articles.

Cited by 34 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

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2. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders;Genetics in Medicine;2024-06

3. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature;Neurogenetics;2024-02-09

4. Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26;Frontiers in Neurology;2023-08-23

5. Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes;Annals of Human Biology;2023-01-02

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