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Page 1
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: fontaine b. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Severe COVID-19-related encephalitis can respond to immunotherapy.
Cao A, Rohaut B, Le Guennec L, Saheb S, Marois C, Altmayer V, Carpentier VT, Nemlaghi S, Soulie M, Morlon Q, Berthet-Delteil B, Bleibtreu A, Raux M, Weiss N, Demeret S; CoCo-Neurosciences study group. Cao A, et al. Brain. 2020 Dec 1;143(12):e102. doi: 10.1093/brain/awaa337. Brain. 2020. PMID: 33064794 Free PMC article. No abstract available.
The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study.
Kas A, Soret M, Pyatigoskaya N, Habert MO, Hesters A, Le Guennec L, Paccoud O, Bombois S, Delorme C; on the behalf of CoCo-Neurosciences study group and COVID SMIT PSL study group. Kas A, et al. Eur J Nucl Med Mol Imaging. 2021 Jul;48(8):2543-2557. doi: 10.1007/s00259-020-05178-y. Epub 2021 Jan 15. Eur J Nucl Med Mol Imaging. 2021. PMID: 33452633 Free PMC article.
Association of Clinical, Biological, and Brain Magnetic Resonance Imaging Findings With Electroencephalographic Findings for Patients With COVID-19.
Lambrecq V, Hanin A, Munoz-Musat E, Chougar L, Gassama S, Delorme C, Cousyn L, Borden A, Damiano M, Frazzini V, Huberfeld G, Landgraf F, Nguyen-Michel VH, Pichit P, Sangare A, Chavez M, Morélot-Panzini C, Morawiec E, Raux M, Luyt CE, Rufat P, Galanaud D, Corvol JC, Lubetzki C, Rohaut B, Demeret S, Pyatigorskaya N, Naccache L, Navarro V; Cohort COVID-19 Neurosciences (CoCo Neurosciences) Study Group. Lambrecq V, et al. JAMA Netw Open. 2021 Mar 1;4(3):e211489. doi: 10.1001/jamanetworkopen.2021.1489. JAMA Netw Open. 2021. PMID: 33720371 Free PMC article.
The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre.
Delorme C, Houot M, Rosso C, Carvalho S, Nedelec T, Maatoug R, Pitron V, Gassama S, Sambin S, Bombois S, Herlin B, Ouvrard G, Bruneteau G, Hesters A, Gales AZ, Millet B, Lamari F, Lehericy S, Navarro V, Rohaut B, Demeret S, Maisonobe T, Yger M, Degos B, Mariani LL, Bouche C, Dzierzynski N, Oquendo B, Ketz F, Nguyen AH, Kas A, Lubetzki C, Delattre JY, Corvol JC; CoCo-Neurosciences Study Group. Delorme C, et al. Brain Commun. 2021 Jun 17;3(3):fcab135. doi: 10.1093/braincomms/fcab135. eCollection 2021. Brain Commun. 2021. PMID: 34401746 Free PMC article.
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.
Vicart S, Franques J, Bouhour F, Magot A, Péréon Y, Sacconi S, Nadaj-Pakleza A, Behin A, Zahr N, Hézode M, Fournier E, Payan C, Lacomblez L, Fontaine B. Vicart S, et al. Among authors: fontaine b. Neuromuscul Disord. 2021 Nov;31(11):1124-1135. doi: 10.1016/j.nmd.2021.06.010. Epub 2021 Jun 27. Neuromuscul Disord. 2021. PMID: 34702654 Free article. Clinical Trial.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Among authors: fontaine b. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
Cardiac Outcomes in Adults With Mitochondrial Diseases.
Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K. Savvatis K, et al. Among authors: fontaine b. J Am Coll Cardiol. 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716. J Am Coll Cardiol. 2022. PMID: 36202532 Free article.
479 results