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104 results

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Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.
Lessard LER, Tard C, Salort-Campana E, Sacconi S, Béhin A, Bassez G, Orlikowski D, Merle P, Nollet S, Gallay L, Bérard F, Robinson P, Bouhour F, Laforêt P. Lessard LER, et al. Mol Genet Metab. 2023 Jul;139(3):107611. doi: 10.1016/j.ymgme.2023.107611. Epub 2023 May 19. Mol Genet Metab. 2023. PMID: 37285781 Free article.
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.
Mayhew AG, James MK, Moore U, Sutherland H, Jacobs M, Feng J, Lowes LP, Alfano LN, Muni Lofra R, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernández I, Holsten S, Sakamoto C, Canal A, Sánchez-Aguilera Práxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Gordish-Dressman H, Hilsden H, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Díaz-Manera J, Pegoraro E, Mendell JR, Straub V. Mayhew AG, et al. Front Neurol. 2022 Mar 10;13:828525. doi: 10.3389/fneur.2022.828525. eCollection 2022. Front Neurol. 2022. PMID: 35359643 Free PMC article.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S. Broucqsault N, et al. Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777630
Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.
Chasseuil E, McGrath JA, Seo A, Balguerie X, Bodak N, Chasseuil H, Denis-Musquer M, Goldenberg A, Goussot R, Irvine AD, Khumalo NP, King MC, Küry S, Lipsker D, Mallet S, Mayosi BM, Nanda A, Puzenat E, Salort-Campana E, Sidbury R, Shimamura A, Bézieau S, Mercier S, Barbarot S. Chasseuil E, et al. Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10. Br J Dermatol. 2019. PMID: 30972747 No abstract available.
[Cognitive disorders in multiple sclerosis].
Brochet B, Bonnet M, Deloire M, Hamel D, Salort-Campana E. Brochet B, et al. Rev Neurol (Paris). 2007 Jun;163(6-7):697-702. doi: 10.1016/s0035-3787(07)90482-8. Rev Neurol (Paris). 2007. PMID: 17607192 Review. French.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Diaz-Manera J, et al. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7. J Neurol Neurosurg Psychiatry. 2018. PMID: 29735511 Free PMC article.
104 results