Literature DB >> 12849205

Many pathways lead to hereditary spastic paraplegia.

Evan Reid1.   

Abstract

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Year:  2003        PMID： 12849205     DOI： 10.1016/s1474-4422(03)00345-4

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN： 1474-4422            Impact factor:   44.182


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  6 in total

Review 1.  Synapses and Sisyphus: life without paraplegin.

Authors:  Harris A Gelbard
Journal:  J Clin Invest       Date:  2004-01       Impact factor: 14.808

2.  A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Authors:  Johanna A Reed; Phillip A Wilkinson; Heema Patel; Michael A Simpson; Arnaud Chatonnet; Dimitri Robay; Michael A Patton; Andrew H Crosby; Thomas T Warner
Journal:  Neurogenetics       Date:  2005-02-12       Impact factor: 2.660

3.  A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Authors:  Amir Boukhris; Imed Feki; Nizar Elleuch; Mohamed Imed Miladi; Anne Boland-Augé; Jérémy Truchetto; Emeline Mundwiller; Nadia Jezequel; Diana Zelenika; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2010-07-01       Impact factor: 2.660

4.  Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Authors:  Christian Beetz; Thomas R Pieber; Nicole Hertel; Maria Schabhüttl; Carina Fischer; Slave Trajanoski; Elisabeth Graf; Silke Keiner; Ingo Kurth; Thomas Wieland; Rita-Eva Varga; Vincent Timmerman; Mary M Reilly; Tim M Strom; Michaela Auer-Grumbach
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

5.  Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia.

Authors:  Andreina Milano; Nicola Montesano Gesualdi; Raffaele Teperino; Franca Esposito; Sergio Cocozza; Paola Ungaro
Journal:  Cell Mol Neurobiol       Date:  2005-12       Impact factor: 4.231

6.  Semaphorin-6A controls guidance of corticospinal tract axons at multiple choice points.

Authors:  Annette E Rünker; Graham E Little; Fumikazu Suto; Hajime Fujisawa; Kevin J Mitchell
Journal:  Neural Dev       Date:  2008-12-08       Impact factor: 3.842
  6 in total

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