✦ LIBER ✦

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia

✍ Scribed by Ingrid K. Svenson; Mark T. Kloos; Amy Jacon; Carol Gallione; April C. Horton; Margaret A. Pericak-Vance; Michael D. Ehlers; Douglas A. Marchuk

Book ID: 106257129
Publisher: Springer
Year: 2005
Tongue: English
Weight: 306 KB
Volume: 6
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-005-0219-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The Drosophila Homologue of the Heredita

The Drosophila Homologue of the Hereditary Spastic Paraplegia Protein, Spastin, Severs and Disassembles Microtubules

✍ Antonina Roll-Mecak; Ronald D. Vale 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 496 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

First mutation in the nuclear localizati

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

✍ Magariello, A.; Tortorella, C.; Patitucci, A.; Tortelli, R.; Liguori, M.; Mazzei 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 553 KB

The identification of a conserved domain

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

✍ Francesca D Ciccarelli; Christos Proukakis; Heema Patel; Harold Cross; Shakil Az 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 549 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

Traffic accidents: Molecular genetic ins

Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

✍ Cynthia Soderblom; Craig Blackstone 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 300 KB