Literature DB >> 25845762

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.

Chloé Laurencin1, Mathieu Anheim, Lise Larrieu, Caroline Tilikete, Michel Koenig, Stéphane Thobois.   

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Year:  2015        PMID： 25845762     DOI： 10.1007/s00415-015-7717-4

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


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  10 in total

Review 1.  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

2.  Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Authors:  Akio Yokoseki; Tomohiko Ishihara; Akihide Koyama; Atsushi Shiga; Mitsunori Yamada; Chieko Suzuki; Yoshiki Sekijima; Kyoko Maruta; Miyuki Tsuchiya; Hidetoshi Date; Tatsuya Sato; Masayoshi Tada; Takeshi Ikeuchi; Shoji Tsuji; Masatoyo Nishizawa; Osamu Onodera
Journal:  Brain       Date:  2011-04-12       Impact factor: 13.501

3.  The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

Authors:  M C Moreira; C Barbot; N Tachi; N Kozuka; E Uchida; T Gibson; P Mendonça; M Costa; J Barros; T Yanagisawa; M Watanabe; Y Ikeda; M Aoki; T Nagata; P Coutinho; J Sequeiros; M Koenig
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

4.  Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

Authors:  M C Moreira ; C Barbot; N Tachi; N Kozuka; P Mendonça; J Barros; P Coutinho; J Sequeiros; M Koenig
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

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.  Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2.

Authors:  Muriel Panouillères; Solène Frismand; Olivier Sillan; Christian Urquizar; Alain Vighetto; Denis Pélisson; Caroline Tilikete
Journal:  Cerebellum       Date:  2013-08       Impact factor: 3.847

7.  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

8.  Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

Authors:  Mathilde Renaud; Mathieu Anheim; Erik-Jan Kamsteeg; Martial Mallaret; Fanny Mochel; Sascha Vermeer; Nathalie Drouot; Jean Pouget; Claire Redin; Emmanuelle Salort-Campana; Hubertus P H Kremer; Corien C Verschuuren-Bemelmans; Jean Muller; Hans Scheffer; Alexandra Durr; Christine Tranchant; Michel Koenig
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

9.  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

10.  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
  10 in total

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