Literature DB >> 30363926

Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.

Martin Paucar1,2, Isabel Alonso3, Mats Eriksson4,5, Stanislav Beniaminov1,2, Paula Coutinho3, Per Svenningsson1,2.   

Abstract

Entities:  

Keywords:  APTX gene; ataxia with oculomotor apraxia type 1; polyneuropathy

Year:  2014        PMID： 30363926      PMCID： PMC6183453          DOI： 10.1002/mdc3.12112

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Authors:  G Yoon; R Westmacott; L MacMillan; N Quercia; P Koutsou; A Georghiou; K Christodoulou; B Banwell
Journal:  J Neurol Neurosurg Psychiatry       Date:  2008-02       Impact factor: 10.154

Review 2.  The autosomal recessive cerebellar ataxias.

Authors:  Mathieu Anheim; Christine Tranchant; Michel Koenig
Journal:  N Engl J Med       Date:  2012-02-16       Impact factor: 91.245

3.  Atypical presentation of ataxia-oculomotor apraxia type 1.

Authors:  Amre Shahwan; Philip J Byrd; A Malcolm R Taylor; Therese Nestor; Stephanie Ryan; Mary D King
Journal:  Dev Med Child Neurol       Date:  2006-06       Impact factor: 5.449

4.  Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.

Authors:  H Date; O Onodera; H Tanaka; K Iwabuchi; K Uekawa; S Igarashi; R Koike; T Hiroi; T Yuasa; Y Awaya; T Sakai; T Takahashi; H Nagatomo; Y Sekijima; I Kawachi; Y Takiyama; M Nishizawa; N Fukuhara; K Saito; S Sugano; S Tsuji
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

5.  Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

Authors:  Isabelle Le Ber; Maria-Ceù Moreira; Sophie Rivaud-Péchoux; Céline Chamayou; François Ochsner; Thierry Kuntzer; Marc Tardieu; Gérard Saïd; Marie-Odile Habert; Geneviève Demarquay; Christian Tannier; Jean-Marie Beis; Alexis Brice; Michel Koenig; Alexandra Dürr
Journal:  Brain       Date:  2003-09-23       Impact factor: 13.501

6.  Aprataxin gene mutations in Tunisian families.

Authors:  R Amouri; M-C Moreira; M Zouari; G El Euch; C Barhoumi; M Kefi; S Belal; M Koenig; F Hentati
Journal:  Neurology       Date:  2004-09-14       Impact factor: 9.910

7.  A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Authors:  Nayereh Nouri; Narges Nouri; Omid Aryani; Behnam Kamalidehghan; Maryam Sedghi; Massoud Houshmand
Journal:  Iran Biomed J       Date:  2012

8.  Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

Authors:  H Shimazaki; Y Takiyama; K Sakoe; K Ikeguchi; K Niijima; J Kaneko; M Namekawa; T Ogawa; H Date; S Tsuji; I Nakano; M Nishizawa
Journal:  Neurology       Date:  2002-08-27       Impact factor: 9.910

9.  Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.

Authors:  C Criscuolo; P Mancini; F Saccà; G De Michele; A Monticelli; L Santoro; V Scarano; S Banfi; A Filla
Journal:  Neurology       Date:  2004-12-14       Impact factor: 9.910
  9 in total

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