Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series-Reference-Cited by-同舟云学术

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

Published:2012-07-21 Issue:1 Volume:20 Page:138-146
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:

Author:

Prodi E.¹,Grisoli M.¹,Panzeri M.²,Minati L.³,Fattori F.⁴,Erbetta A.¹,Uziel G.⁵,D'Arrigo S.⁵,Tessa A.⁶,Ciano C.⁷,Santorelli F. M.⁶,Savoiardo M.¹,Mariotti C.²

Affiliation:

1. Department of Neuroradiology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

2. Unit of Genetics of Neurodegenerative and Metabolic Diseases; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

3. Scientific Directorate; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

4. Department of Molecular Medicine; IRCCS Bambino Gesù Hospital; Rome Italy

5. Department of Child Neurology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

6. Department of Molecular Medicine and Neurogenetics; Fondazione IRCCS Stella Maris; Pisa Italy

7. Department of Clinical Neurophysiology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2012.03815.x/fullpdf

Reference34 articles.

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3. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF;Engert;Nat Genet,2000

4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview;Bouhlal;Parkinsonism Relat Disord,2011

5. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1;Parfitt;Hum Mol Genet,2009

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