Literature DB >> 18604465

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

Marcella Masciullo, Anna Modoni, Fabiana Fattori, Massimo Santoro, Paola S Denora, Pietro Tonali, Filippo M Santorelli, Gabriella Silvestri.   

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Year:  2008        PMID： 18604465     DOI： 10.1007/s00415-008-0936-1

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


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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.  Exclusion of linkage between RET and neuronal intestinal dysplasia type B.

Authors:  V Barone; D Weber; Y Luo; V Brancolini; M Devoto; G Romeo
Journal:  Am J Med Genet       Date:  1996-03-15

Review 3.  Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Authors:  Brent L Fogel; Susan Perlman
Journal:  Lancet Neurol       Date:  2007-03       Impact factor: 44.182

4.  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

5.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Authors:  M Hirano; G Silvestri; D M Blake; A Lombes; C Minetti; E Bonilla; A P Hays; R E Lovelace; I Butler; T E Bertorini
Journal:  Neurology       Date:  1994-04       Impact factor: 9.910

6.  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

7.  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

8.  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

9.  Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease.

Authors:  Christine M Clarke; Cara Plata; Bonnie Cole; Karen Tsuchiya; Albert R La Spada; Raj P Kapur
Journal:  Gastroenterology       Date:  2007-08-21       Impact factor: 22.682

10.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Authors:  Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330
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  3 in total

Review 1.  A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Authors:  Georgia Xiromerisiou; Katerina Dadouli; Chrysoula Marogianni; Antonios Provatas; Panagiotis Ntellas; Dimitrios Rikos; Pantelis Stathis; Despina Georgouli; Gedeon Loules; Maria Zamanakou; Georgios M Hadjigeorgiou
Journal:  J Mol Neurosci       Date:  2019-11-07       Impact factor: 3.444

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

3.  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
  3 in total

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