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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. Among authors: bohm j. 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.
An integrated diagnosis strategy for congenital myopathies.
Böhm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, Monnier N, Brocard J, Karasoy H, Gérard M, Walter MC, Reilich P, Biancalana V, Kretz C, Messaddeq N, Marty I, Lunardi J, Romero NB, Laporte J. Böhm J, et al. PLoS One. 2013 Jun 24;8(6):e67527. doi: 10.1371/journal.pone.0067527. Print 2013. PLoS One. 2013. PMID: 23826317 Free PMC article.
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. Among authors: bohm j. 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.
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, Scheidecker S, Quinlivan R, Fardeau M, Malfatti E, Lannes B, Sewry C, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: bohm j. Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8. Acta Neuropathol Commun. 2019. PMID: 31455395 Free PMC article.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Among authors: bohm j. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
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.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: bohm j. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
587 results