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Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.
Brito D, Miltenberger-Miltenyi G, Moldovan O, Navarro C, Madeira HC. Brito D, et al. Rev Port Cardiol. 2014 Apr;33(4):247.e1-7. doi: 10.1016/j.repc.2013.10.014. Epub 2014 May 13. Rev Port Cardiol. 2014. PMID: 24830310 Free article.
[Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy].
Jorge C, Marques JS, Veiga A, Nóbrega J, Cruz J, Peralta R, Correia MJ, de Sousa J, Miltenberger-Miltényi G, Nunes Diogo A. Jorge C, et al. Rev Port Cardiol. 2011 Dec;30(12):929-35. doi: 10.1016/j.repc.2011.10.003. Epub 2011 Nov 21. Rev Port Cardiol. 2011. PMID: 22104571 Free article. Portuguese.
Serum lipid alterations in GBA-associated Parkinson's disease.
Guedes LC, Chan RB, Gomes MA, Conceição VA, Machado RB, Soares T, Xu Y, Gaspar P, Carriço JA, Alcalay RN, Ferreira JJ, Outeiro TF, Miltenberger-Miltenyi G. Guedes LC, et al. Parkinsonism Relat Disord. 2017 Nov;44:58-65. doi: 10.1016/j.parkreldis.2017.08.026. Epub 2017 Sep 1. Parkinsonism Relat Disord. 2017. PMID: 28890071
Novel mutation in the KCNH2 gene associated with long QT syndrome.
Silva D, Miltenberger-Miltenyi G, Correia MJ, Diogo AN. Silva D, et al. Rev Port Cardiol. 2013 Feb;32(2):163-4. doi: 10.1016/j.repc.2012.06.012. Epub 2013 Jan 23. Rev Port Cardiol. 2013. PMID: 23351921 Free article. No abstract available.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 Free PMC article.
61 results