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113 results

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Page 1
McLeod neuroacanthocytosis: genotype and phenotype.
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP. Danek A, et al. Ann Neurol. 2001 Dec;50(6):755-64. doi: 10.1002/ana.10035. Ann Neurol. 2001. PMID: 11761473
CYLD in health and disease.
Marín-Rubio JL, Raote I, Inns J, Dobson-Stone C, Rajan N. Marín-Rubio JL, et al. Among authors: dobson stone c. Dis Model Mech. 2023 Jun 1;16(6):dmm050093. doi: 10.1242/dmm.050093. Epub 2023 Jun 30. Dis Model Mech. 2023. PMID: 37387450 Free PMC article. Review.
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: dobson stone c. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. Rampoldi L, et al. Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821. Nat Genet. 2001. PMID: 11381253
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. 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. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285
Analysis of the human VPS13 gene family.
Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Velayos-Baeza A, et al. Genomics. 2004 Sep;84(3):536-49. doi: 10.1016/j.ygeno.2004.04.012. Genomics. 2004. PMID: 15498460
113 results