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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Dades bibliogràfiques
Publicat a:Mov Disord Clin Pract
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Case Series with Literature Reviews
Accés en línia: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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