Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature

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 clinical charac...

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Veröffentlicht in:	Neurology. Genetics 2018-04, Vol.4 (2), p.e228-e228
Hauptverfasser:	Leuzzi, Vincenzo, D'Agnano, Daniela, Menotta, Michele, Caputi, Caterina, Chessa, Luciana, Magnani, Mauro
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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