✦ LIBER ✦

Mutation inKIF5Acan also cause adult-onset hereditary spastic paraplegia

✍ Scribed by Marcia A. Blair; Shaochun Ma; Peter Hedera

Book ID: 106257119
Publisher: Springer
Year: 2006
Tongue: English
Weight: 130 KB
Volume: 7
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-005-0027-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation in theAP4B1gene cause hereditar

Mutation in theAP4B1gene cause hereditary spastic paraplegia type 47 (SPG47)

✍ Peter Bauer; Esther Leshinsky-Silver; Lubov Blumkin; Nina Schlipf; Christopher S 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 184 KB

Novel mutations in SPG11 cause hereditar

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

✍ Arianna Guidubaldi; Carla Piano; Filippo M. Santorelli; Gabriella Silvestri; Mar 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB

## Abstract **Background:** Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular w

A novel mutation in KIF5A gene causing h

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

✍ Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crime 📂 Article 📅 2010 🏛 Springer Milan 🌐 English ⚖ 296 KB

Pure adult-onset Spastic Paraplegia caus

Pure adult-onset Spastic Paraplegia caused by a novel mutation in theKIAA0196(SPG8) gene

✍ Susanne T. de Bot, Sascha Vermeer, Wendy Buijsman, Angelien Heister… 📂 Article 📅 2013 🏛 Springer 🌐 English ⚖ 405 KB

SPG3A mutation screening in English fami

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

✍ P.A. Wilkinson; P.E. Hart; H. Patel; T.T. Warner; A.H. Crosby 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 171 KB

Infantile-onset ascending hereditary spa

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

✍ Wakil, Salma M.; Ramzan, Khushnooda; Abuthuraya, Rula; Hagos, Samya; Al-Dossari, 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 327 KB