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1,173 results

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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: federico 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: federico a. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285
The spectrum of mutations for CADASIL diagnosis.
Federico A, Bianchi S, Dotti MT. Federico A, et al. Neurol Sci. 2005 Jun;26(2):117-24. doi: 10.1007/s10072-005-0444-3. Neurol Sci. 2005. PMID: 15995828 Review.
Gene symbol: NOTCH3. Disease: CADASIL.
Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A. Bianchi S, et al. Among authors: federico a. Hum Genet. 2005 Dec;118(3-4):534. Hum Genet. 2005. PMID: 16521241 No abstract available.
Gene symbol: NOTCH3. Disease: CADASIL.
Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A. Bianchi S, et al. Among authors: federico a. Hum Genet. 2005 Dec;118(3-4):535. Hum Genet. 2005. PMID: 16521242 No abstract available.
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Dotti MT, Battisti C, Malandrini A, Federico A, Rubio JP, Circiarello G, Monaco AP. Dotti MT, et al. Among authors: federico a. Mov Disord. 2000 Nov;15(6):1282-4. doi: 10.1002/1531-8257(200011)15:6<1282::aid-mds1042>3.0.co;2-2. Mov Disord. 2000. PMID: 11104227 No abstract available.
1,173 results