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Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
OBJECTIVE: Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clin...
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| Publicado en: | Neurol Genet |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5873729/ https://ncbi.nlm.nih.gov/pubmed/29600275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000228 |
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