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Page 1
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: masingue m. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B. Palmio J, et al. Among authors: masingue m. Neuromuscul Disord. 2020 Jan;30(1):38-46. doi: 10.1016/j.nmd.2019.11.005. Epub 2019 Nov 19. Neuromuscul Disord. 2020. PMID: 31955980 Free PMC article.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G, Querin G, Moore U, Behin A, Masingue M, Bassez G, Leonard-Louis S, Laforêt P, Maisonobe T, Merle PE, Spinazzi M, Solé G, Kuntzer T, Bedat-Millet AL, Salort-Campana E, Attarian S, Péréon Y, Feasson L, Graveleau J, Nadaj-Pakleza A, Leturcq F, Gorokhova S, Krahn M, Eymard B, Straub V; Jain COS Consortium; Evangelista T, Stojkovic T. Fernández-Eulate G, et al. Among authors: masingue m. Eur J Neurol. 2021 Jun;28(6):2092-2102. doi: 10.1111/ene.14821. Epub 2021 Apr 1. Eur J Neurol. 2021. PMID: 33715265 Free article.
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. Among authors: masingue m. Eur J Neurol. 2021 Sep;28(9):2913-2921. doi: 10.1111/ene.14948. Epub 2021 Jun 29. Eur J Neurol. 2021. PMID: 34060176
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. Pisella LI, et al. Among authors: masingue m. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. Orphanet J Rare Dis. 2021. PMID: 34702344 Free PMC article.
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.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
73 results