Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS-Reference-Cited by-同舟云学术

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Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

Published:2010-09-18 Issue:3 Volume:43 Page:346-349
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Anesi Laura,de Gemmis Paola,Pandolfo Massimo,Hladnik Uros

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-010-9448-4.pdf

Reference9 articles.

1. Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG (1999) Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82(3):275–281

2. Criscuolo C, Banfi S, Orio M et al (2004) A novel mutation in SACS gene in a family from southern Italy. Neurology 62(1):100–102

3. Engert JC, Bérubé P, Mercier J et al (2000) ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24(2):120–125

4. Grieco GS, Malandrini A, Comanducci G et al (2004) Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix–Saguenay type. Neurology 62(1):103–106

5. Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A (2001) Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix–Saguenay. Genet Test 5(3):255–259

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1. Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix–Saguenay;Brain Communications;2024

2. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04

3. Mitochondria and Eye;Mutagenesis [Working Title];2021-03-15

4. POLG mutations presenting as Charcot‐Marie‐Tooth disease;Journal of the Peripheral Nervous System;2019-04-10

5. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance;Frontiers in Neurology;2018-11-26

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