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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: lochmuller h. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Limb-girdle muscular dystrophies.
Guglieri M, Straub V, Bushby K, Lochmüller H. Guglieri M, et al. Among authors: lochmuller h. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Curr Opin Neurol. 2008. PMID: 18769252 Review.
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Among authors: lochmuller h. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.
673 results