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Page 1
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium. Trivedi JR, et al. Among authors: fialho d. Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13. Brain. 2013. PMID: 23771340 Free PMC article.
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators. Venance SL, et al. Among authors: fialho d. Brain. 2006 Jan;129(Pt 1):8-17. doi: 10.1093/brain/awh639. Epub 2005 Sep 29. Brain. 2006. PMID: 16195244 Review.
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG. Davies NP, et al. Among authors: fialho d. Neurology. 2005 Oct 11;65(7):1083-9. doi: 10.1212/01.wnl.0000178888.03767.74. Neurology. 2005. PMID: 16217063
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: fialho d. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Periodic paralysis.
Fialho D, Hanna MG. Fialho D, et al. Handb Clin Neurol. 2007;86:77-106. doi: 10.1016/S0072-9752(07)86004-0. Handb Clin Neurol. 2007. PMID: 18808996 No abstract available.
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators. Matthews E, et al. Among authors: fialho d. Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Brain. 2010. PMID: 19917643 Free PMC article. Review.
51 results