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Page 1
Electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy associated with IgG4 antibodies targeting neurofascin 155 or contactin 1 glycoproteins.
Kouton L, Boucraut J, Devaux J, Rajabally YA, Adams D, Antoine JC, Bourdain F, Brodovitch A, Camdessanché JP, Cauquil C, Ciron J, Dubard T, Echaniz-Laguna A, Grapperon AM, Juntas-Morales R, Kremer L, Kuntzer T, Labeyrie C, Lanfranco L, Léger JM, Maisonobe T, Mavroudakis N, Mecharles-Darrigol S, Merle P, Noury JB, Rouaud V, Tard C, Théaudin M, Vallat JM, Viala K, Attarian S, Delmont E. Kouton L, et al. Clin Neurophysiol. 2020 Apr;131(4):921-927. doi: 10.1016/j.clinph.2020.01.013. Epub 2020 Feb 6. Clin Neurophysiol. 2020. PMID: 32078921
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.
Tholance Y, Moritz CP, Rosier C, Ferraud K, Lassablière F, Reynaud-Federspiel E, França MC Jr, Martinez ARM, Camdessanché JP, Antoine JC; anti-FGFR3 antibody Study Group. Tholance Y, et al. J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):49-57. doi: 10.1136/jnnp-2019-321849. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690697
Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.
Delmont E, Brodovitch A, Kouton L, Allou T, Beltran S, Brisset M, Camdessanché JP, Cauquil C, Cirion J, Dubard T, Echaniz-Laguna A, Grapperon AM, Jauffret J, Juntas-Morales R, Kremer LD, Kuntzer T, Labeyrie C, Lanfranco L, Maisonobe T, Mavroudakis N, Mecharles-Darrigol S, Nicolas G, Noury JB, Perie M, Rajabally YA, Remiche G, Rouaud V, Tard C, Salort-Campana E, Verschueren A, Viala K, Wang A, Attarian S, Boucraut J. Delmont E, et al. J Neurol. 2020 Dec;267(12):3664-3672. doi: 10.1007/s00415-020-10041-z. Epub 2020 Jul 16. J Neurol. 2020. PMID: 32676765
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, Attarian S. Subréville M, et al. Eur J Neurol. 2021 Sep;28(9):2913-2921. doi: 10.1111/ene.14948. Epub 2021 Jun 29. Eur J Neurol. 2021. PMID: 34060176
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres.
Neuwirth C, Braun N, Claeys KG, Bucelli R, Fournier C, Bromberg M, Petri S, Goedee S, Lenglet T, Leppanen R, Canosa A, Goodman I, Al-Lozi M, Ohkubo T, Hübers A, Atassi N, Abrahao A, Funke A, Appelfeller M, Tümmler A, Finegan E, Glass JD, Babu S, Ladha SS, Kwast-Rabben O, Juntas-Morales R, Coffey A, Chaudhry V, Vu T, Saephanh C, Newhard C, Zakrzewski M, Rosier E, Hamel N, Raheja D, Raaijman J, Ferguson T, Weber M. Neuwirth C, et al. Clin Neurophysiol. 2018 Aug;129(8):1756-1762. doi: 10.1016/j.clinph.2018.04.614. Epub 2018 May 3. Clin Neurophysiol. 2018. PMID: 29803404 Clinical Trial.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M, Attarian S. Cerino M, et al. Neuropathol Appl Neurobiol. 2020 Oct;46(6):564-578. doi: 10.1111/nan.12624. Epub 2020 Jun 10. Neuropathol Appl Neurobiol. 2020. PMID: 32342993
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Guissart C, et al. Among authors: juntas morales r. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. doi: 10.1136/jnnp-2023-331753. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041669 No abstract available.
86 results