Literature DB >> 12509863

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.

François Gros-Louis, Inge A Meijer, Collette K Hand, Marie-Pierre Dubé, Daune L MacGregor, Marie-Hélène Seni, Rebecca S Devon, Michael R Hayden, Frederick Andermann, Eva Andermann, Guy A Rouleau.   

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Year:  2003        PMID： 12509863     DOI： 10.1002/ana.10422

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  18 in total

1.  Rabex-5 protein regulates dendritic localization of small GTPase Rab17 and neurite morphogenesis in hippocampal neurons.

Authors:  Yasunori Mori; Takahide Matsui; Mitsunori Fukuda
Journal:  J Biol Chem       Date:  2013-02-19       Impact factor: 5.157

Review 2.  Emerging pathways for hereditary axonopathies.

Authors:  Stephan Züchner; Jeffery M Vance
Journal:  J Mol Med (Berl)       Date:  2005-08-31       Impact factor: 4.599

Review 3.  Nonsense-mediated decay in genetic disease: friend or foe?

Authors:  Jake N Miller; David A Pearce
Journal:  Mutat Res Rev Mutat Res       Date:  2014-05-28       Impact factor: 5.657

Review 4.  Alsin and the molecular pathways of amyotrophic lateral sclerosis.

Authors:  Jayanth Chandran; Jinhui Ding; Huaibin Cai
Journal:  Mol Neurobiol       Date:  2007-07-10       Impact factor: 5.590

5.  Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.

Authors:  Koji Yamanaka; Christine Vande Velde; Eleonore Eymard-Pierre; Enrico Bertini; Odile Boespflug-Tanguy; Don W Cleveland
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-10       Impact factor: 11.205

6.  Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.

Authors:  Chen Lai; Chengsong Xie; Hoon Shim; Jayanth Chandran; Brian W Howell; Huaibin Cai
Journal:  Mol Brain       Date:  2009-07-24       Impact factor: 4.041

7.  A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Authors:  Agnes L Nishimura; Miguel Mitne-Neto; Helga C A Silva; Antônio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz
Journal:  Am J Hum Genet       Date:  2004-09-15       Impact factor: 11.025

8.  The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Authors:  Isabelle Maystadt; René Rezsöhazy; Martine Barkats; Sandra Duque; Pascal Vannuffel; Sophie Remacle; Barbara Lambert; Mustapha Najimi; Etienne Sokal; Arnold Munnich; Louis Viollet; Christine Verellen-Dumoulin
Journal:  Am J Hum Genet       Date:  2007-05-16       Impact factor: 11.025

Review 9.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Authors:  Patrick A Dion; Hussein Daoud; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2009-10-13       Impact factor: 53.242

10.  Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis.

Authors:  Luis B Tovar-Y-Romo; Luz Diana Santa-Cruz; Ricardo Tapia
Journal:  Mol Neurodegener       Date:  2009-07-20       Impact factor: 14.195
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