Literature DB >> 15852392

Very late onset in ataxia oculomotor apraxia type I.

Chiara Criscuolo, Pietro Mancini, Valeria Menchise, Francesco Saccà, Giuseppe De Michele, Sandro Banfi, Alessandro Filla.   

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Year:  2005        PMID： 15852392     DOI： 10.1002/ana.20463

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


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  9 in total

Review 1.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

2.  Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

Authors:  D H'mida-Ben Brahim; A M'zahem; M Assoum; Y Bouhlal; F Fattori; M Anheim; L Ali-Pacha; F Ferrat; M Chaouch; C Lagier-Tourenne; N Drouot; C Thibaut; T Benhassine; Y Sifi; D Stoppa-Lyonnet; K N'Guyen; J Poujet; A Hamri; F Hentati; R Amouri; F M Santorelli; M Tazir; M Koenig
Journal:  J Neurol       Date:  2010-08-27       Impact factor: 4.849

3.  Autosomal recessive adult onset ataxia.

Authors:  Nataša Dragašević-Mišković; Iva Stanković; Andona Milovanović; Vladimir S Kostić
Journal:  J Neurol       Date:  2021-09-09       Impact factor: 4.849

4.  Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Authors:  C Daiou; K Christodoulou; G Xiromerisiou; M Panas; E Dardiotis; A Kladi; M Speletas; G Ntaios; A Papadimitriou; A Germenis; Georgios M Hadjigeorgiou
Journal:  Neurol Sci       Date:  2009-12-02       Impact factor: 3.307

5.  Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.

Authors:  Elena Salvatore; Andrea Varrone; Chiara Criscuolo; Pietro Mancini; Valeria Sansone; Caterina Strisciuglio; Domenico Cicala; Valencia Scarano; Marco Salvatore; Sabina Pappatà; Giuseppe De Michele; Alessandro Filla
Journal:  J Neurol       Date:  2007-11-21       Impact factor: 4.849

Review 6.  DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.

Authors:  Edward C Gilmore
Journal:  Neurogenetics       Date:  2014-07-20       Impact factor: 2.660

7.  Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

Authors:  Jingga Inlora; M Reza Sailani; Hamidreza Khodadadi; Ahmad Teymurinezhad; Shinichi Takahashi; Jonathan A Bernstein; Masoud Garshasbi; Michael P Snyder
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

8.  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

9.  Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

Authors:  Percy Tumbale; Matthew J Schellenberg; Geoffrey A Mueller; Emma Fairweather; Mandy Watson; Jessica N Little; Juno Krahn; Ian Waddell; Robert E London; R Scott Williams
Journal:  EMBO J       Date:  2018-06-22       Impact factor: 11.598
  9 in total

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