Literature DB >> 30838287

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.

Pankaj A Agarwal1, Priti Ate-Upasani2, Vedam L Ramprasad3.   

Abstract

Entities:  

Keywords:  ARSACS; India; Indian; SACS duplication; SACS gene; pontine striations

Year:  2017        PMID： 30838287      PMCID： PMC6353450          DOI： 10.1002/mdc3.12520

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  8 in total

1.  Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1979-05       Impact factor: 2.104

2.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

3.  Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Authors:  M Faruq; A Narang; R Kumari; R Pandey; A Garg; M Behari; D Dash; A K Srivastava; M Mukerji
Journal:  Clin Genet       Date:  2013-10-13       Impact factor: 4.438

4.  Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Authors:  Antoine Duquette; Bernard Brais; Jean-Pierre Bouchard; Jean Mathieu
Journal:  Mov Disord       Date:  2013-08-02       Impact factor: 10.338

5.  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

Review 6.  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

7.  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

8.  The UCSC Genome Browser database: extensions and updates 2013.

Authors:  Laurence R Meyer; Ann S Zweig; Angie S Hinrichs; Donna Karolchik; Robert M Kuhn; Matthew Wong; Cricket A Sloan; Kate R Rosenbloom; Greg Roe; Brooke Rhead; Brian J Raney; Andy Pohl; Venkat S Malladi; Chin H Li; Brian T Lee; Katrina Learned; Vanessa Kirkup; Fan Hsu; Steve Heitner; Rachel A Harte; Maximilian Haeussler; Luvina Guruvadoo; Mary Goldman; Belinda M Giardine; Pauline A Fujita; Timothy R Dreszer; Mark Diekhans; Melissa S Cline; Hiram Clawson; Galt P Barber; David Haussler; W James Kent
Journal:  Nucleic Acids Res       Date:  2012-11-15       Impact factor: 16.971
  8 in total
  5 in total

1.  SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.

Authors:  S Sheetal; S Amith Kumar; P Byju
Journal:  Ann Indian Acad Neurol       Date:  2020-04-07       Impact factor: 1.383

Review 2.  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 3.  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

4.  SACS Gene Deletional Mutation Presenting as an Isolated Nonprogressive Sensory Motor Axonal Neuropathy: A Case Report.

Authors:  Vikash Agarwal; Dinesh Nayak; Anil Venkatachalam; Haseeb Hasan
Journal:  Ann Indian Acad Neurol       Date:  2021-04-28       Impact factor: 1.383

Review 5.  Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Authors:  Mbarka Bchetnia; Luigi Bouchard; Jean Mathieu; Philippe M Campeau; Charles Morin; Diane Brisson; Anne-Marie Laberge; Hélène Vézina; Daniel Gaudet; Catherine Laprise
Journal:  J Med Genet       Date:  2021-04-28       Impact factor: 6.318
  5 in total

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