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Page 1
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
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.
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J. Vasli N, et al. Acta Neuropathol. 2012 Aug;124(2):273-83. doi: 10.1007/s00401-012-0982-8. Epub 2012 Apr 18. Acta Neuropathol. 2012. PMID: 22526018 Free PMC article.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. Mokbel N, et al. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31. Brain. 2013. PMID: 23378224 Free article.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B. Palmio J, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19. J Neurol Neurosurg Psychiatry. 2014. PMID: 23606733
Adult centronuclear myopathies: A hospital-based study.
Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J. Echaniz-Laguna A, et al. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):625-31. doi: 10.1016/j.neurol.2012.12.006. Epub 2013 Aug 9. Rev Neurol (Paris). 2013. PMID: 23938035
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, Boland A, Deleuze JF, Böhm J, Thompson J, Laporte J, Biancalana V. Echaniz-Laguna A, et al. Acta Neuropathol. 2017 Jul;134(1):163-165. doi: 10.1007/s00401-017-1724-8. Epub 2017 May 13. Acta Neuropathol. 2017. PMID: 28501893 No abstract available.
213 results