Literature DB >> 16421146

A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

S Okawa, M Sugawara, S Watanabe, T Imota, I Toyoshima.   

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Year:  2006        PMID： 16421146      PMCID： PMC2077575          DOI： 10.1136/jnnp.2005.077297

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 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.  ARSACS goes global.

Authors:  Christopher M Gomez
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910

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.  Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

Authors:  Kenju Hara; Osamu Onodera; Minoru Endo; Hiroshi Kondo; Hiroshi Shiota; Kenji Miki; Naoyuki Tanimoto; Tetsuya Kimura; Masatoyo Nishizawa
Journal:  Mov Disord       Date:  2005-03       Impact factor: 10.338

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
  5 in total
  9 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.  Crosslinguistic application of English-centric rhythm descriptors in motor speech disorders.

Authors:  Julie M Liss; Rene Utianski; Kaitlin Lansford
Journal:  Folia Phoniatr Logop       Date:  2013-05-28       Impact factor: 0.849

3.  Sacsinopathies: sacsin-related ataxia.

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

4.  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

5.  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

6.  A novel SACS gene mutation in a Tunisian family.

Authors:  Yosr Bouhlal; Ghada El Euch-Fayeche; Fayçal Hentati; Rim Amouri
Journal:  J Mol Neurosci       Date:  2009-06-16       Impact factor: 3.444

Review 7.  Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Authors:  Jaya Bagaria; Eva Bagyinszky; Seong Soo A An
Journal:  Int J Mol Sci       Date:  2022-01-04       Impact factor: 5.923

Review 8.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303

9.  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
  9 in total

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