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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: karp bi. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112
Ultrasound as Diagnostic Tool for Diaphragmatic Myoclonus.
Llaneza Ramos VF, Considine E, Karp BI, Lungu C, Alter K, Hallett M. Llaneza Ramos VF, et al. Among authors: karp bi. Mov Disord Clin Pract. 2016 May-Jun;3(3):282-284. doi: 10.1002/mdc3.12295. Epub 2016 Jan 9. Mov Disord Clin Pract. 2016. PMID: 27430001 Free PMC article.
Myelinolysis after correction of hyponatremia.
Laureno R, Karp BI. Laureno R, et al. Among authors: karp bi. Ann Intern Med. 1997 Jan 1;126(1):57-62. doi: 10.7326/0003-4819-126-1-199701010-00008. Ann Intern Med. 1997. PMID: 8992924 Review.
59 results