Literature DB >> 12611435

Spinocerebellar ataxias caused by polyglutamine expansions.

Giovanni Stevanin1, Alexandra Dürr, Alexis Brice.   

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Year:  2002        PMID： 12611435     DOI： 10.1007/978-1-4615-0117-6_3

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  6 in total

1.  Developing a smartphone application, triaxial accelerometer-based, to quantify static and dynamic balance deficits in patients with cerebellar ataxias.

Authors:  Giuseppe Arcuria; Christian Marcotulli; Raffaele Amuso; Giuliano Dattilo; Claudio Galasso; Francesco Pierelli; Carlo Casali
Journal:  J Neurol       Date:  2019-11-11       Impact factor: 4.849

2.  Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.

Authors:  Ute Nonhoff; Markus Ralser; Franziska Welzel; Ilaria Piccini; Daniela Balzereit; Marie-Laure Yaspo; Hans Lehrach; Sylvia Krobitsch
Journal:  Mol Biol Cell       Date:  2007-02-07       Impact factor: 4.138

3.  PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.

Authors:  Alexandre Janer; Elodie Martin; Marie-Paule Muriel; Morwena Latouche; Hiroto Fujigasaki; Merle Ruberg; Alexis Brice; Yvon Trottier; Annie Sittler
Journal:  J Cell Biol       Date:  2006-07-03       Impact factor: 10.539

4.  Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Authors:  Sophie Tezenas du Montcel; Alexandra Durr; Maria Rakowicz; Lorenzo Nanetti; Perrine Charles; Anna Sulek; Caterina Mariotti; Rafal Rola; Ludger Schols; Peter Bauer; Isabelle Dufaure-Garé; Heike Jacobi; Sylvie Forlani; Tanja Schmitz-Hübsch; Alessandro Filla; Dagmar Timmann; Bart P van de Warrenburg; Cecila Marelli; Jun-Suk Kang; Paola Giunti; Arron Cook; Laszlo Baliko; Béla Melegh; Melegh Bela; Sylvia Boesch; Sandra Szymanski; José Berciano; Jon Infante; Katrin Buerk; Marcella Masciullo; Roberto Di Fabio; Chantal Depondt; Susanne Ratka; Giovanni Stevanin; Thomas Klockgether; Alexis Brice; Jean-Louis Golmard
Journal:  J Med Genet       Date:  2014-04-29       Impact factor: 6.318

5.  SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Authors:  Cecilia Marelli; Joyce van de Leemput; Janel O Johnson; Francois Tison; Christel Thauvin-Robinet; Fabienne Picard; Christine Tranchant; Dena G Hernandez; Bernard Huttin; Jacques Boulliat; Iban Sangla; Christian Marescaux; Serge Brique; Hélène Dollfus; Sampath Arepalli; Isabelle Benatru; Elisabeth Ollagnon; Sylvie Forlani; John Hardy; Giovanni Stevanin; Alexandra Dürr; Andrew Singleton; Alexis Brice
Journal:  Arch Neurol       Date:  2011-05

6.  Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6.

Authors:  Po-Shan Wang; Hung-Chieh Chen; Hsiu-Mei Wu; Jiing-Feng Lirng; Yu-Te Wu; Bing-Wen Soong
Journal:  PLoS One       Date:  2012-10-11       Impact factor: 3.240
  6 in total

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