Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene s...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Elsayed, Liena E O, Mohammed, Inaam N, Hamed, Ahlam A A, Elseed, Maha A, Johnson, Adam, Mairey, Mathilde, Mohamed, Hassab Elrasoul S A, Idris, Mohamed N, Salih, Mustafa A M, El-sadig, Sarah M, Koko, Mahmoud E, Mohamed, Ashraf Y O, Raymond, Laure, Coutelier, Marie, Darios, Frédéric, Siddig, Rayan A, Ahmed, Ahmed K M A, Babai, Arwa M A, Malik, Hiba M O, Omer, Zulfa M B M, Mohamed, Eman O E, Eltahir, Hanan B, Magboul, Nasr Aldin A, Bushara, Elfatih E, Elnour, Abdelrahman, Rahim, Salah M Abdel, Alattaya, Abdelmoneim, Elbashir, Mustafa I, Ibrahim, Muntaser E, Durr, Alexandra, Audhya, Anjon, Brice, Alexis, Ahmed, Ammar E, Stevanin, Giovanni
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159756/
https://ncbi.nlm.nih.gov/pubmed/27601211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.108
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