Literature DB >> 17380240

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.

Masaru Matsui, Toshitaka Kawarai, Yoshiki Hase, Hidekazu Tomimoto, Kazumi Iseki, Ekaterina Rogaeva, Antonio Orlacchio, Giorgio Bernardi, Peter St George-Hyslop, Ryosuke Takahashi, Makoto Matsui.   

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Year:  2007        PMID： 17380240     DOI： 10.1007/s00415-006-0446-y

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


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  9 in total

1.  Clinical and genetic study of a large Italian family linked to SPG12 locus.

Authors:  A Orlacchio; T Kawarai; E Rogaeva; Y Q Song; A D Paterson; G Bernardi; P H St George-Hyslop
Journal:  Neurology       Date:  2002-11-12       Impact factor: 9.910

2.  The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Authors:  Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
Journal:  J Neurol       Date:  2005-03-08       Impact factor: 4.849

3.  Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Authors:  Alexandra Dürr; Agnès Camuzat; Emilie Colin; Chantal Tallaksen; Didier Hannequin; Paula Coutinho; Bertrand Fontaine; Annick Rossi; Roger Gil; Christophe Rousselle; Merle Ruberg; Giovanni Stevanin; Alexis Brice
Journal:  Arch Neurol       Date:  2004-12

4.  Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Authors:  X Zhao; D Alvarado; S Rainier; R Lemons; P Hedera; C H Weber; T Tukel; M Apak; T Heiman-Patterson; L Ming; M Bui; J K Fink
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

5.  Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Authors:  Annette Abel; Nuria Fonknechten; Anne Hofer; Alexandra Dürr; Corinne Cruaud; Thomas Voit; Jean Weissenbach; Alexis Brice; Sven Klimpe; Georg Auburger; Jamilé Hazan
Journal:  Neurogenetics       Date:  2004-10-28       Impact factor: 2.660

6.  Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.

Authors:  Peng-Peng Zhu; Andrew Patterson; Brigitte Lavoie; Julia Stadler; Marwa Shoeb; Rakesh Patel; Craig Blackstone
Journal:  J Biol Chem       Date:  2003-09-23       Impact factor: 5.157

7.  Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Authors:  Christopher M Sanderson; James W Connell; Thomas L Edwards; Nicholas A Bright; Simon Duley; Amanda Thompson; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2005-12-08       Impact factor: 6.150

8.  PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.

Authors:  E Rogaeva; C Bergeron; C Sato; I Moliaka; T Kawarai; A Toulina; Y-Q Song; T Kolesnikova; A Orlacchio; G Bernardi; P H St George-Hyslop
Journal:  Neurology       Date:  2003-10-14       Impact factor: 9.910

9.  Hereditary spastic paraplegia: clinical genetic study of 15 families.

Authors:  Antonio Orlacchio; Toshitaka Kawarai; Antonio Totaro; Alessia Errico; Peter H St George-Hyslop; Elena I Rugarli; Giorgio Bernardi
Journal:  Arch Neurol       Date:  2004-06
  9 in total
  2 in total

1.  An intronic ncRNA-dependent regulation of SORL1 expression affecting Aβ formation is upregulated in post-mortem Alzheimer's disease brain samples.

Authors:  Eleonora Ciarlo; Sara Massone; Ilaria Penna; Mario Nizzari; Arianna Gigoni; Giorgio Dieci; Claudio Russo; Tullio Florio; Ranieri Cancedda; Aldo Pagano
Journal:  Dis Model Mech       Date:  2012-09-20       Impact factor: 5.758

2.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014
  2 in total

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