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Literature DB >> 14718687

ARSACS goes global.

Christopher M Gomez.

Abstract

Mesh：

Substances：

Year: 2004 PMID： 14718687 DOI： 10.1212/wnl.62.1.10

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

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Cited

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15 in total

1. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors: Martine Girard; Roxanne Larivière; David A Parfitt; Emily C Deane; Rebecca Gaudet; Nadya Nossova; Francois Blondeau; George Prenosil; Esmeralda G M Vermeulen; Michael R Duchen; Andrea Richter; Eric A Shoubridge; Kalle Gehring; R Anne McKinney; Bernard Brais; J Paul Chapple; Peter S McPherson
Journal: Proc Natl Acad Sci U S A Date: 2012-01-17 Impact factor: 11.205

2. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors: S Okawa; M Sugawara; S Watanabe; T Imota; I Toyoshima
Journal: J Neurol Neurosurg Psychiatry Date: 2006-02 Impact factor: 10.154

3. A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Authors: Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Stephan Klebe; Hamid Azzedine; Silvia Di Giandomenico; Anne Boland-Augé; Filippo M Santorelli; Alexandra Durr; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
Journal: Hum Genet Date: 2007-02-02 Impact factor: 4.132

Review 4. An update on inherited ataxias.

Authors: Tanja Schmitz-Hübsch; Thomas Klockgether
Journal: Curr Neurol Neurosci Rep Date: 2008-07 Impact factor: 5.081

ARSACS goes global.

1. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

2. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

3. A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Review 4. An update on inherited ataxias.

5. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

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

7. Sacsinopathies: sacsin-related ataxia.

8. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

9. A novel SACS gene mutation in a Tunisian family.

Review 10. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.