Literature DB >> 17516465

Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.

Kenju Hara, Junsuke Shimbo, Hiroaki Nozaki, Koki Kikugawa, Osamu Onodera, Masatoyo Nishizawa.   

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Year:  2007        PMID： 17516465     DOI： 10.1002/mds.21557

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  2 in total

Review 1.  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

2.  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
  2 in total

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