✦ LIBER ✦

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family

✍ Scribed by Wei Qin; Tao Zhang; Ju Han; LiQun Tang; XingWang Li; GuoYin Feng; WanQing Liu; Lin He

Book ID: 119465938
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 150 KB
Volume: 210
Category: Article
ISSN: 0022-510X
DOI: 10.1016/s0022-510x(03)00011-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the spastin gene in

A novel mutation in the spastin gene in a family with spastic paraplegia

✍ Mitsuya Morita; Mac Ho; Betsy A. Hosler; Diane McKenna-Yasek; Robert H. Brown Jr 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 166 KB

Two novel mutations in the Spastin gene

Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia

✍ Q.-Z. Fei; W.-G. Tang; T.-Y. Rong; H.-D. Tang; J.-R. Liu; Z.-L. Guo; Y. Fu; Q. X 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB

ZFYVE27 (SPG33), a Novel Spastin-Binding

ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia

✍ Ashraf U. Mannan; Philip Krawen; Simone M. Sauter; Johann Boehm; Agnieszka Chron 📂 Article 📅 2006 🏛 American Society of Human Genetics 🌐 English ⚖ 360 KB

Novel splice site mutation of SPG4 in a

Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia

✍ Liu, Xiaomin; Tang, Jiyou 📂 Article 📅 2014 🏛 Springer Milan 🌐 English ⚖ 406 KB

Hereditary spastic paraplegia caused by

Hereditary spastic paraplegia caused by a mutation in the VCP gene

✍ de Bot, S. T.; Schelhaas, H. J.; Kamsteeg, E.-J.; van de Warrenburg, B. P. C. 📂 Article 📅 2012 🏛 Oxford University Press 🌐 English ⚖ 89 KB

Screening of patients with hereditary sp

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene

✍ C. Proukakis; M. Auer-Grumbach; K. Wagner; P.A. Wilkinson; E. Reid; M.A. Patton; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr