Zobrazeno 1 - 2
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pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Alice Pébay, Louise A. Corben, Martin B. Delatycki, Mirella Dottori, Sze Hwee Ong, Marguerite V. Evans-Galea, Paul J. Lockhart
Publikováno v:
Human Gene Therapy. 25:684-693
Neurodegenerative disorders such as Friedreich ataxia (FRDA) present significant challenges in developing effective therapeutic intervention. Current treatments aim to manage symptoms and thus improve quality of life, but none can cure, nor are prove
Autor:
Melissa Hanson, W. Seltzer, Katrina Gwinn-Hardy, Zbigniew K. Wszolek, Haydeh Payami, Matthew J. Farrer, Jennifer Hussey, Paul J. Lockhart
Publikováno v:
Genetic Testing. 6:217-220
Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. Recent studies have widened the clinical phenotype, notab