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Page 1
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: darras bt. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: darras bt. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
Clinical trials in spinal muscular atrophy.
Darras BT, Kang PB. Darras BT, et al. Curr Opin Pediatr. 2007 Dec;19(6):675-9. doi: 10.1097/MOP.0b013e3282f1884c. Curr Opin Pediatr. 2007. PMID: 18025935 Review.
LGMD2I in a North American population.
Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. Kang PB, et al. Among authors: darras bt. BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115. BMC Musculoskelet Disord. 2007. PMID: 18036232 Free PMC article.
Juvenile myasthenia gravis.
Chiang LM, Darras BT, Kang PB. Chiang LM, et al. Among authors: darras bt. Muscle Nerve. 2009 Apr;39(4):423-31. doi: 10.1002/mus.21195. Muscle Nerve. 2009. PMID: 19229875 Review.
Autoimmune neuromuscular disorders in childhood.
McMillan HJ, Darras BT, Kang PB. McMillan HJ, et al. Among authors: darras bt. Curr Treat Options Neurol. 2011 Dec;13(6):590-607. doi: 10.1007/s11940-011-0146-5. Curr Treat Options Neurol. 2011. PMID: 21912840 Free PMC article.
261 results