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Page 1
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Chabrol B, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T. Fernández-Eulate G, et al. Among authors: stojkovic t. J Neurol. 2024 Mar 22. doi: 10.1007/s00415-024-12298-0. Online ahead of print. J Neurol. 2024. PMID: 38517523
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: stojkovic t. Eur J Neurol. 2021 Sep;28(9):2913-2921. doi: 10.1111/ene.14948. Epub 2021 Jun 29. Eur J Neurol. 2021. PMID: 34060176
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: stojkovic t. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: stojkovic t. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N. Pons N, et al. Among authors: stojkovic t. Eur J Neurol. 2023 Jul;30(7):2001-2011. doi: 10.1111/ene.15793. Epub 2023 Apr 4. Eur J Neurol. 2023. PMID: 36943151
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: stojkovic t. Eur J Neurol. 2023 Oct;30(10):3265-3276. doi: 10.1111/ene.15937. Epub 2023 Jul 5. Eur J Neurol. 2023. PMID: 37335503
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, Cintas P. Salort-Campana E, et al. Among authors: stojkovic t. Orphanet J Rare Dis. 2024 Jan 24;19(1):24. doi: 10.1186/s13023-023-03008-6. Orphanet J Rare Dis. 2024. PMID: 38268028 Free PMC article.
Congenital myopathies are mainly associated with a mild cardiac phenotype.
Petri H, Wahbi K, Witting N, Køber L, Bundgaard H, Kamoun E, Vellieux G, Stojkovic T, Béhin A, Laforet P, Vissing J. Petri H, et al. Among authors: stojkovic t. J Neurol. 2019 Jun;266(6):1367-1375. doi: 10.1007/s00415-019-09267-3. Epub 2019 Mar 14. J Neurol. 2019. PMID: 30874888
436 results