Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

We studied five individuals from three Jewish Bukharian families affected by an apparently autosomal-recessive form of hereditary spastic paraparesis accompanied by severe intellectual disability, fluctuating central hypoventilation, gastresophageal reflux disease, wake apnea, areflexia, and unique...

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Bibliographische Detailangaben
Hauptverfasser: Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516605/
https://ncbi.nlm.nih.gov/pubmed/23176824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.015
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