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415 results

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Page 1
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Among authors: storch a. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112
Chorein detection for the diagnosis of chorea-acanthocytosis.
Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Dobson-Stone C, et al. Among authors: storch a. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.
Lupo F, Tibaldi E, Matte A, Sharma AK, Brunati AM, Alper SL, Zancanaro C, Benati D, Siciliano A, Bertoldi M, Zonta F, Storch A, Walker RH, Danek A, Bader B, Hermann A, De Franceschi L. Lupo F, et al. Among authors: storch a. Blood. 2016 Dec 22;128(25):2976-2987. doi: 10.1182/blood-2016-07-727321. Epub 2016 Oct 14. Blood. 2016. PMID: 27742708 Free PMC article.
Viewpoint and practical recommendations from a movement disorder specialist panel on objective measurement in the clinical management of Parkinson's disease.
Odin P, Chaudhuri KR, Volkmann J, Antonini A, Storch A, Dietrichs E, Pirtošek Z, Henriksen T, Horne M, Devos D, Bergquist F. Odin P, et al. Among authors: storch a. NPJ Parkinsons Dis. 2018 May 10;4:14. doi: 10.1038/s41531-018-0051-7. eCollection 2018. NPJ Parkinsons Dis. 2018. PMID: 29761156 Free PMC article. Review.
415 results