ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype-Reference-Cited by-同舟云学术

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

Published:2018-12-04 Issue:2 Volume:266 Page:378-385
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Nanetti Lorenzo,Sarto Elisa,Castaldo Anna,Magri Stefania,Mongelli Alessia,Rossi Sebastiano Davide,Canafoglia Laura,Grisoli Marina,Malaguti Chiara,Rivieri Francesca,D’Amico Maria Chiara,Di Bella Daniela,Franceschetti Silvana,Mariotti Caterina^ORCID,Taroni Franco

Funder

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/article/10.1007/s00415-018-9141-z/fulltext.html

Reference27 articles.

1. Parodi L, Coarelli G, Stevanin G, Brice A, Durr A (2018) Hereditary ataxias and paraparesias: clinical and genetic update. Curr Opin Neurol 31:462–471

2. Beaudin M, Klein CJ, Rouleau GA, Dupré N (2017) Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias 4:3

3. Vermeer S, Hoischen A, Meijer RP et al (2010) Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 87:813–819

4. Renaud M, Anheim M, Kamsteeg EJ et al (2014) Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. JAMA Neurol 71:1305–1310

5. Balreira A, Boczonadi V, Barca E et al (2014) ANO10 mutations cause ataxia and coenzyme Q10 deficiency. J Neurol 261:2192–2198

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