Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes-Reference-Cited by-同舟云学术

Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes

Published:2023-03-30 Issue: Volume: Page:
ISSN:1473-4230
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

De Michele Giovanna,Maione Luigi,Cocozza Sirio,Tranfa Mario,Pane Chiara,Galatolo Daniele,De Rosa Anna,De Michele Giuseppe,Saccà Francesco,Filla Alessandro

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12311-023-01549-x.pdf

Reference85 articles.

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3. Galatolo D, Tessa A, Filla A, Santorelli FM. Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective anal. Neurogenetics. 2018;19:1–8. https://doi.org/10.1007/s10048-017-0532-6.

4. Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O’Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, et al. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013;23(368):1992–2003. https://doi.org/10.1056/NEJMoa1215993.

5. Alqwaifly M, Bohlega S. Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation. Neurol Int. 2016;8:6444. https://doi.org/10.4081/ni.2016.6444.

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