Literature DB >> 24916831

A case of amyotrophic lateral sclerosis with intermediate ATXN-1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1.

Rossella Spataro1, Vincenzo La Bella.   

Abstract

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Year:  2014        PMID： 24916831     DOI： 10.1007/s00415-014-7400-1

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


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  13 in total

1.  Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

Authors:  Sirinan Tazen; Karla Figueroa; Justin Y Kwan; Jill Goldman; Ann Hunt; Jacinda Sampson; Laurie Gutmann; Stefan M Pulst; Hiroshi Mitsumoto; Sheng-Han Kuo
Journal:  JAMA Neurol       Date:  2013-10       Impact factor: 18.302

2.  Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.

Authors:  T Lee; Y R Li; A Chesi; M P Hart; D Ramos; N Jethava; D Hosangadi; J Epstein; B Hodges; N M Bonini; A D Gitler
Journal:  Neurology       Date:  2011-05-11       Impact factor: 9.910

Review 3.  Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

Authors:  J J Magaña; L Velázquez-Pérez; B Cisneros
Journal:  Mol Neurobiol       Date:  2012-09-21       Impact factor: 5.590

4.  Clinical features and natural history of spinocerebellar ataxia type 1.

Authors:  H Sasaki; T Fukazawa; T Yanagihara; T Hamada; K Shima; A Matsumoto; K Hashimoto; N Ito; A Wakisaka; K Tashiro
Journal:  Acta Neurol Scand       Date:  1996-01       Impact factor: 3.209

5.  Roles of ataxin-2 in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS).

Authors:  Yoshihiro Nihei; Daisuke Ito; Norihiro Suzuki
Journal:  J Biol Chem       Date:  2012-10-09       Impact factor: 5.157

Review 6.  Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.

Authors:  Lorenzo Nanetti; Roberto Fancellu; Chiara Tomasello; Cinzia Gellera; Davide Pareyson; Caterina Mariotti
Journal:  J Neurol       Date:  2009-07-31       Impact factor: 4.849

7.  Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.

Authors:  Manal A Farg; Kai Y Soo; Sadaf T Warraich; Vinod Sundaramoorthy; Ian P Blair; Julie D Atkin
Journal:  Hum Mol Genet       Date:  2012-11-19       Impact factor: 6.150

8.  PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype.

Authors:  Tomohiro Okuda; Hiroshi Hattori; Sousuke Takeuchi; Jun Shimizu; Hiroko Ueda; Jorma J Palvimo; Ichiro Kanazawa; Hitoshi Kawano; Masaya Nakagawa; Hitoshi Okazawa
Journal:  Hum Mol Genet       Date:  2003-04-01       Impact factor: 6.150

9.  Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

Authors:  L G Goldfarb; O Vasconcelos; F A Platonov; A Lunkes; V Kipnis; S Kononova; T Chabrashvili; V A Vladimirtsev; V P Alexeev; D C Gajdusek
Journal:  Ann Neurol       Date:  1996-04       Impact factor: 10.422

10.  Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.

Authors:  Andrew C Elden; Hyung-Jun Kim; Michael P Hart; Alice S Chen-Plotkin; Brian S Johnson; Xiaodong Fang; Maria Armakola; Felix Geser; Robert Greene; Min Min Lu; Arun Padmanabhan; Dana Clay-Falcone; Leo McCluskey; Lauren Elman; Denise Juhr; Peter J Gruber; Udo Rüb; Georg Auburger; John Q Trojanowski; Virginia M-Y Lee; Vivianna M Van Deerlin; Nancy M Bonini; Aaron D Gitler
Journal:  Nature       Date:  2010-08-26       Impact factor: 49.962
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  3 in total

1.  Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family.

Authors:  Giovanna Morello; Giulia Gentile; Rossella Spataro; Antonio Gianmaria Spampinato; Maria Guarnaccia; Salvatore Salomone; Vincenzo La Bella; Francesca Luisa Conforti; Sebastiano Cavallaro
Journal:  J Pers Med       Date:  2020-12-02

Review 2.  Recent advances in amyotrophic lateral sclerosis.

Authors:  Nilo Riva; Federica Agosta; Christian Lunetta; Massimo Filippi; Angelo Quattrini
Journal:  J Neurol       Date:  2016-03-30       Impact factor: 4.849

3.  ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.

Authors:  Gijs H P Tazelaar; Steven Boeynaems; Mathias De Decker; Joke J F A van Vugt; Lindy Kool; H Stephan Goedee; Russell L McLaughlin; William Sproviero; Alfredo Iacoangeli; Matthieu Moisse; Maarten Jacquemyn; Dirk Daelemans; Annelot M Dekker; Rick A van der Spek; Henk-Jan Westeneng; Kevin P Kenna; Abdelilah Assialioui; Nica Da Silva; Mónica Povedano; Jesus S Mora Pardina; Orla Hardiman; François Salachas; Stéphanie Millecamps; Patrick Vourc'h; Philippe Corcia; Philippe Couratier; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; R Jeroen Pasterkamp; John E Landers; Ludo Van Den Bosch; Wim Robberecht; Ammar Al-Chalabi; Leonard H van den Berg; Philip Van Damme; Jan H Veldink; Michael A van Es
Journal:  Brain Commun       Date:  2020-05-19
  3 in total

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