Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40–70% of the families remain without a mol...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Morais, Sara, Raymond, Laure, Mairey, Mathilde, Coutinho, Paula, Brandão, Eva, Ribeiro, Paula, Loureiro, José Leal, Sequeiros, Jorge, Brice, Alexis, Alonso, Isabel, Stevanin, Giovanni
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643959/
https://ncbi.nlm.nih.gov/pubmed/28832565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.124
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