Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders

BACKGROUND: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia‐lik...

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Bibliografiske detaljer
Udgivet i:Mov Disord Clin Pract
Main Authors: Raslan, Ivana Rocha, de Assis Pereira Matos, Paula Camila Alves, Boaratti Ciarlariello, Vinícius, Daghastanli, Karyme Hussein, Rosa, Augusto Bragança Reis, Arita, Juliana Harumi, Aranda, Carolina Sanchez, Barsottini, Orlando Graziani Povoas, Pedroso, José Luiz
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
Fag:
Case Series with Literature Reviews
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7780949/
https://ncbi.nlm.nih.gov/pubmed/33426167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.13110
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