Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genet...

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Publicado en:Am J Hum Genet
Autores principales: Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuck, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Bencheikh, Bouchra Ouled Amar
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863665/
https://ncbi.nlm.nih.gov/pubmed/27153400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.002
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