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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: fananapazir l. 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: fananapazir l. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285
Early clinical heterogeneity in choreoacanthocytosis.
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Lossos A, et al. Among authors: fananapazir l. Arch Neurol. 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. Arch Neurol. 2005. PMID: 15824261
Mutations of MYO6 are associated with recessive deafness, DFNB37.
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: fananapazir l. Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687499 Free PMC article.
Advances in understanding hypertrophic cardiomyopathy.
Mohiddin S, Fananapazir L. Mohiddin S, et al. Among authors: fananapazir l. Hosp Pract (1995). 2001 May 15;36(5):23-5, 29-30, 33-6. doi: 10.3810/hp.2001.05.236. Hosp Pract (1995). 2001. PMID: 11361156 No abstract available.
94 results