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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
Normal dystrophin in McLeod myopathy.
Danek A, Witt TN, Stockmann HB, Weiss BJ, Schotland DL, Fischbeck KH. Danek A, et al. Ann Neurol. 1990 Nov;28(5):720-2. doi: 10.1002/ana.410280521. Ann Neurol. 1990. PMID: 2260862
Cerebral involvement in McLeod syndrome.
Danek A, Uttner I, Vogl T, Tatsch K, Witt TN. Danek A, et al. Neurology. 1994 Jan;44(1):117-20. doi: 10.1212/wnl.44.1.117. Neurology. 1994. PMID: 8290045
[McLeod syndrome].
Danek A, Witt TN. Danek A, et al. Dtsch Med Wochenschr. 1993 Mar 26;118(12):428-32. doi: 10.1055/s-2008-1059346. Dtsch Med Wochenschr. 1993. PMID: 8467737 Review. German. No abstract available.
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP. Rubio JP, et al. Among authors: danek a. Am J Hum Genet. 1997 Oct;61(4):899-908. doi: 10.1086/514876. Am J Hum Genet. 1997. PMID: 9382101 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. Among authors: danek a. Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821. Nat Genet. 2001. PMID: 11381253
407 results