Literature DB >> 23338241

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Valeria Dibilio, Francesca Cavalcanti, Alessandra Nicoletti, Giovanni Mostile, Elisa Bruno, Grazia Annesi, Patrizia Tarantino, Monica Gagliardi, Antonio Gambardella, Aldo Quattrone, Mario Zappia.   

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Year:  2013        PMID： 23338241     DOI： 10.1007/s12311-013-0451-5

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  12 in total

1.  ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Authors:  J C Engert; P Bérubé; J Mercier; C Doré; P Lepage; B Ge; J P Bouchard; J Mathieu; S B Melançon; M Schalling; E S Lander; K Morgan; T J Hudson; A Richter
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

2.  New mutation in the non-gigantic exon of SACS in Japanese siblings.

Authors:  Yuhei Takado; Kenju Hara; Takayoshi Shimohata; Susumu Tokiguchi; Osamu Onodera; Masatoyo Nishizawa
Journal:  Mov Disord       Date:  2007-04-15       Impact factor: 10.338

3.  Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.

Authors:  D L Guernsey; M-P Dubé; H Jiang; G Asselin; S Blowers; S Evans; M Ferguson; C Macgillivray; M Matsuoka; M Nightingale; A Rideout; M Delatycki; A Orr; M Ludman; J Dooley; C Riddell; M E Samuels
Journal:  J Neurol Sci       Date:  2009-11-04       Impact factor: 3.181

4.  Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Authors:  E Prodi; M Grisoli; M Panzeri; L Minati; F Fattori; A Erbetta; G Uziel; S D'Arrigo; A Tessa; C Ciano; F M Santorelli; M Savoiardo; C Mariotti
Journal:  Eur J Neurol       Date:  2012-07-21       Impact factor: 6.089

5.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1978-02       Impact factor: 2.104

6.  Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Authors:  G S Grieco; A Malandrini; G Comanducci; V Leuzzi; M Valoppi; A Tessa; S Palmeri; L Benedetti; A Pierallini; S Gambelli; A Federico; F Pierelli; E Bertini; C Casali; F M Santorelli
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910

7.  ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Authors:  Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; Johannes R M Cruysberg; Maaike M Bos; Helenius J Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
Journal:  Neurogenetics       Date:  2008-05-09       Impact factor: 2.660

Review 8.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

Authors:  M-H Martin; J-P Bouchard; M Sylvain; O St-Onge; S Truchon
Journal:  AJNR Am J Neuroradiol       Date:  2007-09       Impact factor: 3.825

9.  An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Authors:  Haruo Shimazaki; Kumi Sakoe; Kenji Niijima; Imaharu Nakano; Yoshihisa Takiyama
Journal:  J Neurol Sci       Date:  2007-03-08       Impact factor: 3.181

10.  Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

Authors:  Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre Combarros; Jon Infante; Antonio Garcia; Sandro Banfi; Alessandro Filla; José Berciano
Journal:  Mov Disord       Date:  2005-10       Impact factor: 10.338
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