✦ LIBER ✦

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

✍ Scribed by Stevanin, Giovanni; Santorelli, Filippo M; Azzedine, Hamid; Coutinho, Paula; Chomilier, Jacques; Denora, Paola S; Martin, Elodie; Ouvrard-Hernandez, Anne-Marie; Tessa, Alessandra; Bouslam, Naïma

Book ID: 109919519
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 394 KB
Volume: 39
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1980

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel mutations in the SPG11 gene ca

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum

✍ Shu-Shan Zhang; Qin Chen; Xue-Ping Chen; Jian-Gang Wang; Jean-Marc Burgunder; Hu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB

Novel SPG11 mutations in Chinese familie

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

✍ Cao, Li; Rong, Tian-Yi; Huang, Xiao-Jun; Fang, Rong; Wu, Zhi-Yuan; Tang, Hui-Don 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 422 KB

SPG11 mutations cause Kjellin syndrome,

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

✍ Hanna Örlén; Atle Melberg; Raili Raininko; Eva Kumlien; Miriam Entesarian; Per S 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 289 KB

Atypical hereditary spastic paraplegia w

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation

✍ W. T. Yoon; W. Y. Lee; S.-T. Lee; J. Y. Ahn; C.-S. Ki; J. W. Cho 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB

Expanding the clinical spectrum of SPG11

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

✍ Alice Abdel Aleem; Nourhan Abu-Shahba; Dominika Swistun; Jennifer Silhavy; Steph 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 432 KB

Autosomal recessive hereditary spastic p

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

✍ T. Pippucci; E. Panza; E. Pompilii; V. Donadio; A. Borreca; C. Babalini; C. Patr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB