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Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy. HSP occurs worldwide, with different populations having different frequenc...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Lynch, David S, Koutsis, Georgios, Tucci, Arianna, Panas, Marios, Baklou, Markella, Breza, Marianthi, Karadima, Georgia, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4688955/
https://ncbi.nlm.nih.gov/pubmed/26374131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.200
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