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Muscle imaging in congenital myopathies.
Quijano-Roy S, Carlier RY, Fischer D. Quijano-Roy S, et al. Among authors: carlier ry. Semin Pediatr Neurol. 2011 Dec;18(4):221-9. doi: 10.1016/j.spen.2011.10.003. Semin Pediatr Neurol. 2011. PMID: 22172417 Review.
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S, Martí-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Carlier RY. Quijano-Roy S, et al. Among authors: carlier ry. Brain Dev. 2006 May;28(4):232-42. doi: 10.1016/j.braindev.2005.08.003. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16368217
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB. Bolocan A, et al. Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25070542
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S. Hankiewicz K, et al. Among authors: carlier ry. Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14. Muscle Nerve. 2015. PMID: 25808192
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E. Dabaj I, et al. Among authors: carlier ry. Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14. Muscle Nerve. 2018. PMID: 29624713
189 results