Literature DB >> 17657515

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.

Christian Beetz, Anders O H Nygren, Thomas Deufel, Evan Reid.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17657515     DOI： 10.1007/s10048-007-0099-8

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   3.017


× No keyword cloud information.
  8 in total

Review 1.  The hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Neurol       Date:  1999-11       Impact factor: 4.849

2.  Hereditary spastic paraplegia: the pace quickens.

Authors:  John K Fink
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

Review 3.  All neuropathies great and small.

Authors:  Ellen B Penny; Brian D McCabe
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

4.  Beginning to understand hereditary spastic paraplegia atlastin.

Authors:  Jeffrey L Elliott
Journal:  Arch Neurol       Date:  2004-12

5.  High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Authors:  C Beetz; A O H Nygren; J Schickel; M Auer-Grumbach; K Bürk; G Heide; J Kassubek; S Klimpe; T Klopstock; F Kreuz; S Otto; R Schüle; L Schöls; A-D Sperfeld; O W Witte; T Deufel
Journal:  Neurology       Date:  2006-10-11       Impact factor: 9.910

6.  SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Authors:  M Namekawa; P Ribai; I Nelson; S Forlani; F Fellmann; C Goizet; C Depienne; G Stevanin; M Ruberg; A Dürr; A Brice
Journal:  Neurology       Date:  2006-01-10       Impact factor: 9.910

7.  SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

Authors:  Peng-Peng Zhu; Cynthia Soderblom; Jung-Hwa Tao-Cheng; Julia Stadler; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2006-03-14       Impact factor: 6.150

8.  Characterization of a novel SPG3A deletion in a French-Canadian family.

Authors:  Inge A Meijer; Patrick Dion; Sandra Laurent; Nicolas Dupré; Bernard Brais; Annie Levert; Jacques Puymirat; Marie France Rioux; Michel Sylvain; Peng-Peng Zhu; Cynthia Soderblom; Julia Stadler; Craig Blackstone; Guy A Rouleau
Journal:  Ann Neurol       Date:  2007-06       Impact factor: 10.422
  8 in total
  2 in total

Review 1.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

2.  Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Authors:  Anna Sulek; Ewelina Elert; Marta Rajkiewicz; Elzbieta Zdzienicka; Iwona Stepniak; Wioletta Krysa; Jacek Zaremba
Journal:  Neurol Sci       Date:  2011-12-28       Impact factor: 3.307
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.