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Literature DB >> 18038174

Novel mutation in the SPAST gene in a patient with spastic paraparesis.

M D I Vergouwen, E A Sistermans, F Baas, J H Koelman, M de Visser.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2007 PMID： 18038174 DOI： 10.1007/s00415-007-0728-z

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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8 in total

1. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Authors: Ashraf U Mannan; Philip Krawen; Simone M Sauter; Johann Boehm; Agnieszka Chronowska; Walter Paulus; Juergen Neesen; Wolfgang Engel
Journal: Am J Hum Genet Date: 2006-06-01 Impact factor: 11.025

2. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

Authors: P Coutinho; J Barros; R Zemmouri; J Guimarães; C Alves; R Chorão; E Lourenço; P Ribeiro; J L Loureiro; J V Santos; A Hamri; C Paternotte; J Hazan; M C Silva; J F Prud'homme; D Grid
Journal: Arch Neurol Date: 1999-08

3. Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

Authors: Frans Brugman; John H J Wokke; Hans Scheffer; Martina H A Versteeg; Erik A Sistermans; Leonard H van den Berg
Journal: Ann Neurol Date: 2005-12 Impact factor: 10.422

4. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors: N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal: Hum Mol Genet Date: 2000-03-01 Impact factor: 6.150

Novel mutation in the SPAST gene in a patient with spastic paraparesis.

1. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

2. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

3. Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

4. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

5. Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.

6. Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia.

Review 7. The hereditary spastic paraplegias: nine genes and counting.

8. Clinical and genetic study of a large SPG4 Italian family.