✦ LIBER ✦

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

✍ Scribed by Carlo Fusco; Daniele Frattini; Enrico Farnetti; Davide Nicoli; Bruno Casali; Francesco Fiorentino; Andrea Nuccitelli; Elvio Della Giustina

Book ID: 113498817
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 81 KB
Volume: 32
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2009.08.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Hereditary motor and sensory neuropathy

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

✍ Wanda Maria Gerding; Judith Koetting; Jörg Thomas Epplen; Clemens Neusch 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 134 KB

Novel mutations in the Atlastin gene (SP

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

✍ S.M. Sauter; W. Engel; L.M. Neumann; J. Kunze; J. Neesen 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2

Four novel SPG3A/atlastin mutations iden

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

✍ BN Smith; S Bevan; C Vance; P Renwick; P Wilkinson; C Proukakis; F Squitieri; A 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB