✦ LIBER ✦

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

✍ Scribed by Yoon, G.; Baskin, B.; Tarnopolsky, M.; Boycott, K. M.; Geraghty, M. T.; Sell, E.; Goobie, S.; Meschino, W.; Banwell, B.; Ray, P. N.

Book ID: 120422578
Publisher: Springer
Year: 2013
Tongue: English
Weight: 260 KB
Volume: 14
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-013-0366-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and genetic analysis of four Ta

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

✍ Lan, Min-Yu; Fu, Ser-Chen; Chang, Yung-Yee; Wu-Chou, Yah-Huei; Lai, Szu-Chia; Ch 📂 Article 📅 2012 🏛 Chinese Electronic Periodical Services 🌐 English ⚖ 518 KB

A clinical, genetic, and biochemical cha

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

✍ Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consigli 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views

Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati

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

FP31-WE-04 Complicated autosomal recessi

FP31-WE-04 Complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum: a new locus and further genetic heterogeneity

✍ A. Boukhris; I. Feki; N. Elleuch; M.I. Miladi; S. Forlani; S. Belal; A. Brice; C 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 61 KB

Clinical and genetic findings in a serie

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia

✍ R. Battini; A. Fogli; D. Borghetti; A. Michelucci; S. Perazza; F. Baldinotti; M. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 408 KB

Clinical and genetic study of SPG6 mutat

Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

✍ Shi Guo Liu; Jian Jun Zhao; Mao You Zhuang; Fei Feng Li; Qing Jun Zhang; Shang Z 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 614 KB