Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis-Reference-Cited by-同舟云学术

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

Published:2017-12-06 Issue:1 Volume:19 Page:1-8
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Galatolo Daniele,Tessa Alessandra,Filla Alessandro,Santorelli Filippo M.

Funder

E-RARE-3 Joint Transnational Call

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-017-0532-6/fulltext.html

Reference31 articles.

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2. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1(8334):1151–1155. https://doi.org/10.1016/S0140-6736(83)92879-9

3. Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol 171(6–7):505–530. https://doi.org/10.1016/j.neurol.2015.02.017

4. Didonna A, Opal P (2016) Advances in sequencing technologies for understanding hereditary ataxias: a review. JAMA Neurol 73(12):1485–1490. https://doi.org/10.1001/jamaneurol.2016.3097

5. Hensiek A, Kirker S, Reid E (2015) Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J Neurol 262(7):1601–1612. https://doi.org/10.1007/s00415-014-7598-y

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