Literature DB >> 32642330

Late-onset ataxia plus syndromes: Extending the phenotype of senataxin-related disease.

Duncan Street1, Mary O'Driscoll1, Malcolm Taylor1, David Nicholl1.   

Abstract

Entities:  

Year:  2020        PMID: 32642330      PMCID: PMC7292555          DOI: 10.1212/CPJ.0000000000000707

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  8 in total

1.  APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop.

Authors:  C E Murray; A King; C Troakes; A Hodges; T Lashley
Journal:  Neuropathol Appl Neurobiol       Date:  2018-03-01       Impact factor: 8.090

2.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

3.  Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Authors:  M Anheim; B Monga; M Fleury; P Charles; C Barbot; M Salih; J P Delaunoy; M Fritsch; L Arning; M Synofzik; L Schöls; J Sequeiros; C Goizet; C Marelli; I Le Ber; J Koht; J Gazulla; J De Bleecker; M Mukhtar; N Drouot; L Ali-Pacha; T Benhassine; M Chbicheb; A M'Zahem; A Hamri; B Chabrol; J Pouget; R Murphy; M Watanabe; P Coutinho; M Tazir; A Durr; A Brice; C Tranchant; M Koenig
Journal:  Brain       Date:  2009-08-20       Impact factor: 13.501

4.  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

5.  The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2.

Authors:  Florian Brugger; Michael Schüpbach; Michel Koenig; René Müri; Stephan Bohlhalter; Alain Kaelin-Lang; Christian P Kamm; Georg Kägi
Journal:  Mov Disord Clin Pract       Date:  2014-05-27

Review 6.  Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.

Authors:  Matthias Groh; Laura Oana Albulescu; Agnese Cristini; Natalia Gromak
Journal:  J Mol Biol       Date:  2016-10-19       Impact factor: 5.469

7.  Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Authors:  L L Mariani; S Rivaud-Péchoux; P Charles; C Ewenczyk; A Meneret; B B Monga; M-C Fleury; E Hainque; T Maisonobe; B Degos; A Echaniz-Laguna; M Renaud; T Wirth; D Grabli; A Brice; M Vidailhet; D Stoppa-Lyonnet; C Dubois-d'Enghien; I Le Ber; M Koenig; E Roze; C Tranchant; A Durr; B Gaymard; M Anheim
Journal:  Sci Rep       Date:  2017-11-10       Impact factor: 4.379

8.  Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Authors:  Andrea H Németh; Alexandra C Kwasniewska; Stefano Lise; Ricardo Parolin Schnekenberg; Esther B E Becker; Katarzyna D Bera; Morag E Shanks; Lorna Gregory; David Buck; M Zameel Cader; Kevin Talbot; Rajith de Silva; Nicholas Fletcher; Rob Hastings; Sandeep Jayawant; Patrick J Morrison; Paul Worth; Malcolm Taylor; John Tolmie; Mary O'Regan; Ruth Valentine; Emily Packham; Julie Evans; Anneke Seller; Jiannis Ragoussis
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501

  8 in total

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