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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Toussaint A, et al. Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. Acta Neuropathol. 2011. PMID: 20927630
Muscle phosphorylase b kinase deficiency revisited.
Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S. Echaniz-Laguna A, et al. Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18. Neuromuscul Disord. 2010. PMID: 20080404
Myopathies in the elderly: a hospital-based study.
Echaniz-Laguna A, Mohr M, Lannes B, Tranchant C. Echaniz-Laguna A, et al. Neuromuscul Disord. 2010 Jul;20(7):443-7. doi: 10.1016/j.nmd.2010.05.003. Epub 2010 Jun 1. Neuromuscul Disord. 2010. PMID: 20621722
POLG1 variations presenting as multiple sclerosis.
Echaniz-Laguna A, Chassagne M, de Sèze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B. Echaniz-Laguna A, et al. Arch Neurol. 2010 Sep;67(9):1140-3. doi: 10.1001/archneurol.2010.219. Arch Neurol. 2010. PMID: 20837861
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. 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.
213 results