Literature DB >> 19451537

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Philip Van Damme1, Philippe Demaerel, Werner Spileers, Wim Robberecht.   

Abstract

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Mesh：

Year:  2009        PMID： 19451537     DOI： 10.1212/WNL.0b013e3181a60a9a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Authors:  Katharina Vill; Wolfgang Müller-Felber; Dieter Gläser; Marius Kuhn; Veronika Teusch; Herbert Schreiber; Joachim Weis; Jörg Klepper; Anja Schirmacher; Astrid Blaschek; Manuela Wiessner; Tim M Strom; Bianca Dräger; Kristina Hofmeister-Kiltz; Moritz Tacke; Lucia Gerstl; Peter Young; Rita Horvath; Jan Senderek
Journal:  Hum Genet       Date:  2018-11-21       Impact factor: 4.132

2.  Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Authors:  Franca Wagner; David S Titelbaum; Renate Engisch; Emily K Coskun; Jeff L Waugh
Journal:  Clin Neuroradiol       Date:  2018-01-29       Impact factor: 3.649

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.  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
  4 in total

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