Literature DB >> 16944349

Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.

Yoichi Yamamoto, Masayuki Nakamori, Kuni Konaka, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Saburo Sakoda.   

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Year:  2006        PMID： 16944349     DOI： 10.1007/s00415-006-0252-6

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


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  11 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.  Novel compound heterozygous mutations in sacsin-related ataxia.

Authors:  Yoichi Yamamoto; Kotaro Hiraoka; Mutsuko Araki; Seiichi Nagano; Haruo Shimazaki; Yoshihisa Takiyama; Sabro Sakoda
Journal:  J Neurol Sci       Date:  2005-09-29       Impact factor: 3.181

3.  A phenotype without spasticity in sacsin-related ataxia.

Authors:  H Shimazaki; Y Takiyama; K Sakoe; Y Ando; I Nakano
Journal:  Neurology       Date:  2005-06-28       Impact factor: 9.910

4.  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

5.  Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

Authors:  Ghada El Euch-Fayache; Irfan Lalani; Rim Amouri; Ilhem Turki; Karim Ouahchi; Wu-Yen Hung; Samir Belal; Teepu Siddique; Faycal Hentati
Journal:  Arch Neurol       Date:  2003-07

6.  Identification of a SACS gene missense mutation in ARSACS.

Authors:  T Ogawa; Y Takiyama; K Sakoe; K Mori; M Namekawa; H Shimazaki; I Nakano; M Nishizawa
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910

7.  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

8.  Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Authors:  Andrea M Richter; Riza Koksal Ozgul; Virginie C Poisson; Haluk Topaloglu
Journal:  Neurogenetics       Date:  2004-05-20       Impact factor: 2.660

9.  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

10.  A novel mutation in SACS gene in a family from southern Italy.

Authors:  C Criscuolo; S Banfi; M Orio; P Gasparini; A Monticelli; V Scarano; F M Santorelli; A Perretti; L Santoro; G De Michele; A Filla
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910
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  6 in total

1.  New findings in the ataxia of Charlevoix-Saguenay.

Authors:  José Gazulla; Isabel Benavente; Ana Carmen Vela; Miguel Angel Marín; Luis Emilio Pablo; Alessandra Tessa; María Rosario Barrena; Filippo Maria Santorelli; Claudia Nesti; Pedro Modrego; María Tintoré; José Berciano
Journal:  J Neurol       Date:  2011-10-13       Impact factor: 4.849

2.  Sacsinopathies: sacsin-related ataxia.

Authors:  Yoshihisa Takiyama
Journal:  Cerebellum       Date:  2007-02-28       Impact factor: 3.847

3.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Authors:  S Kamada; S Okawa; T Imota; M Sugawara; I Toyoshima
Journal:  J Neurol       Date:  2008-05-19       Impact factor: 4.849

4.  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

5.  Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Authors:  Jihye Park; Hyun Mi Oh; Hye Jung Park; Ah-Ra Cho; Dong-Woo Lee; Ja-Hyun Jang; Dae-Hyun Jang
Journal:  Mol Genet Genomic Med       Date:  2019-09-01       Impact factor: 2.183

6.  Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Authors:  Alessandro Romano; Alessandra Tessa; Amilcare Barca; Fabiana Fattori; Maria Fulvia de Leva; Alessandra Terracciano; Carlo Storelli; Filippo Maria Santorelli; Tiziano Verri
Journal:  Hum Mutat       Date:  2013-03       Impact factor: 4.878
  6 in total

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