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Page 1
Maculopathy and spinocerebellar ataxia type 1: a new association?
Lebranchu P, Le Meur G, Magot A, David A, Verny C, Weber M, Milea D. Lebranchu P, et al. Among authors: magot a. J Neuroophthalmol. 2013 Sep;33(3):225-31. doi: 10.1097/WNO.0b013e31828d4add. J Neuroophthalmol. 2013. PMID: 23584155
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, Mariampillai K, Amelin D, Mauhin W, Hogrel JY, Caillaud C, Ronzitti G, Puzzo F, Kuranda K, Colella P, Mallone R, Benveniste O, Mingozzi F; French Pompe Registry Study Group. Masat E, et al. Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182. Sci Rep. 2016. PMID: 27812025 Free PMC article.
International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome.
Jacobs BC, van den Berg B, Verboon C, Chavada G, Cornblath DR, Gorson KC, Harbo T, Hartung HP, Hughes RAC, Kusunoki S, van Doorn PA, Willison HJ; IGOS Consortium. Jacobs BC, et al. J Peripher Nerv Syst. 2017 Jun;22(2):68-76. doi: 10.1111/jns.12209. J Peripher Nerv Syst. 2017. PMID: 28406555 Free article.
Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome.
Luijten LWG, Doets AY, Arends S, Dimachkie MM, Gorson KC, Islam B, Kolb NA, Kusunoki S, Papri N, Waheed W, Walgaard C, Yamagishi Y, Lingsma H, Jacobs BC; IGOS Consortium. Luijten LWG, et al. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):300-308. doi: 10.1136/jnnp-2022-329937. Epub 2022 Nov 25. J Neurol Neurosurg Psychiatry. 2023. PMID: 36428088
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group. Laforêt P, et al. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008051
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P. Retailleau E, et al. Among authors: magot a. Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7. Eur J Neurol. 2024. PMID: 39109844 Free PMC article.
Current treatment practice of Guillain-Barré syndrome.
Verboon C, Doets AY, Galassi G, Davidson A, Waheed W, Péréon Y, Shahrizaila N, Kusunoki S, Lehmann HC, Harbo T, Monges S, Van den Bergh P, Willison HJ, Cornblath DR, Jacobs BC; IGOS Consortium. Verboon C, et al. Neurology. 2019 Jul 2;93(1):e59-e76. doi: 10.1212/WNL.0000000000007719. Epub 2019 Jun 7. Neurology. 2019. PMID: 31175208 Free article.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mercier S, et al. Among authors: magot a. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268661 Free PMC article.
96 results