Literature DB >> 19377860

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.

Tobias Haack, Douglas Friday, Andreas Bender, Arndt Rolfs, Thomas Klopstock.   

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Year:  2009        PMID： 19377860     DOI： 10.1007/s00415-009-5133-3

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


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  11 in total

1.  Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

Authors:  C Criscuolo; L Chessa; S Di Giandomenico; P Mancini; F Saccà; G S Grieco; M Piane; F Barbieri; G De Michele; S Banfi; F Pierelli; N Rizzuto; F M Santorelli; L Gallosti; A Filla; C Casali
Journal:  Neurology       Date:  2006-04-25       Impact factor: 9.910

2.  Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Authors:  Brent L Fogel; Susan Perlman
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

3.  Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

Authors:  T Asaka; H Yokoji; J Ito; K Yamaguchi; A Matsushima
Journal:  Neurology       Date:  2006-05-23       Impact factor: 9.910

4.  Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

Authors:  M Watanabe; Y Sugai; P Concannon; M Koenig; M Schmitt; M Sato; M Shizuka; K Mizushima; Y Ikeda; Y Tomidokoro; K Okamoto; M Shoji
Journal:  Ann Neurol       Date:  1998-08       Impact factor: 10.422

5.  "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

Authors:  Ludger Schöls; Larissa Arning; Rebecca Schüle; Jörg T Epplen; Dagmar Timmann
Journal:  J Neurol       Date:  2008-03-20       Impact factor: 4.849

6.  Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Authors:  Isabelle Le Ber; Naïma Bouslam; Sophie Rivaud-Péchoux; João Guimarães; Ali Benomar; Céline Chamayou; Cyril Goizet; Maria-Ceù Moreira; Sandra Klur; Mohamed Yahyaoui; Yves Agid; Michel Koenig; Giovanni Stevanin; Alexis Brice; Alexandra Dürr
Journal:  Brain       Date:  2004-01-21       Impact factor: 13.501

7.  Ovarian failure in ataxia with oculomotor apraxia type 2.

Authors:  David R Lynch; Corey D Braastad; Narasimhan Nagan
Journal:  Am J Med Genet A       Date:  2007-08-01       Impact factor: 2.802

8.  Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Authors:  Maria-Céu Moreira; Sandra Klur; Mitsunori Watanabe; Andrea H Németh; Isabelle Le Ber; José-Carlos Moniz; Christine Tranchant; Patrick Aubourg; Meriem Tazir; Lüdger Schöls; Massimo Pandolfo; Jörg B Schulz; Jean Pouget; Patrick Calvas; Masami Shizuka-Ikeda; Mikio Shoji; Makoto Tanaka; Louise Izatt; Christopher E Shaw; Abderrahim M'Zahem; Eimear Dunne; Pascale Bomont; Traki Benhassine; Naïma Bouslam; Giovanni Stevanin; Alexis Brice; João Guimarães; Pedro Mendonça; Clara Barbot; Paula Coutinho; Jorge Sequeiros; Alexandra Dürr; Jean-Marie Warter; Michel Koenig
Journal:  Nat Genet       Date:  2004-02-08       Impact factor: 38.330

9.  Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.

Authors:  A H Németh; E Bochukova; E Dunne; S M Huson; J Elston; M A Hannan; M Jackson; C J Chapman; A M Taylor
Journal:  Am J Hum Genet       Date:  2000-10-05       Impact factor: 11.043

10.  A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Authors:  Paschalis Nicolaou; Anthi Georghiou; Christina Votsi; Lefkos T Middleton; Eleni Zamba-Papanicolaou; Kyproula Christodoulou
Journal:  BMC Med Genet       Date:  2008-04-14       Impact factor: 2.103
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  1 in total

1.  Senataxin mutations and amyotrophic lateral sclerosis.

Authors:  Michio Hirano; Catarina M Quinzii; Hiroshi Mitsumoto; Arthur P Hays; J Kirk Roberts; Patricia Richard; Lewis P Rowland
Journal:  Amyotroph Lateral Scler       Date:  2010-12-29
  1 in total

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