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A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.
Foy M, Métay C, Frank M, Denarié N, Adham S, Billon C, Legrand A, Jeunemaitre X, Gillas F, Gaudon K, De Mazancourt P, Mekki A, Carlier R, Benistan K. Foy M, et al. Among authors: carlier r. Clin Case Rep. 2023 Feb 27;11(2):e6760. doi: 10.1002/ccr3.6760. eCollection 2023 Feb. Clin Case Rep. 2023. PMID: 36860721 Free PMC article.
Clinical image: atypical calcification of dorsal spine.
Gouze H, Carlier R, Breban M, Felter A. Gouze H, et al. Among authors: carlier r. Ann Rheum Dis. 2023 Nov;82(11):1495. doi: 10.1136/ard-2023-224138. Epub 2023 Apr 26. Ann Rheum Dis. 2023. PMID: 37100463 No abstract available.
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Perrin A, Garcia-Uzquiano R, Stojkovic T, Tard C, Metay C, Bergougnoux A, Van Goethem C, Thèze C, Larrieux M, Faure-Gautron H, Laporte J, Lefebvre G, Krahn M, Juntas-Morales R, Titin's Network Collaborators, Koenig M, Quijano-Roy S, Carlier RY, Cossée M. Perrin A, et al. Among authors: carlier ry. Int J Mol Sci. 2024 Dec 3;25(23):12994. doi: 10.3390/ijms252312994. Int J Mol Sci. 2024. PMID: 39684706 Free PMC article.
Thigh and paraspinal muscles change after fusionless bipolar fixation for early onset scoliosis in type 2 spinal muscular atrophy: Modifications in the spinal and thigh muscles of subjects with SMA2 and early onset scoliosis.
Gaume M, Vergari C, Creze M, Bonnet-Lebrun A, Muth-Seng C, Quijano-Roy S, Miladi L, Skalli W, Carlier RY. Gaume M, et al. Among authors: carlier ry. Arch Pediatr. 2024 Nov 18:547-552. doi: 10.1016/j.arcped.2024.08.005. Online ahead of print. Arch Pediatr. 2024. PMID: 39562255
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: carlier ry. J Neurol Neurosurg Psychiatry. 2024 Oct 24:jnnp-2024-334263. doi: 10.1136/jnnp-2024-334263. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39448255 Free article.
249 results