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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Bibliografiset tiedot
Julkaisussa:Neurol Genet
Päätekijät: Leuzzi, Vincenzo, D'Agnano, Daniela, Menotta, Michele, Caputi, Caterina, Chessa, Luciana, Magnani, Mauro
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wolters Kluwer 2018
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Article
Linkit: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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