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Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: stojkovic t. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, Schaeffer L, Salort-Campana E, Chanson JB, Pakleza AN, Kaminsky AL, Svahn J, Manel V, Bouhour F, Pegat A. Theuriet J, et al. Among authors: stojkovic t. Eur J Hum Genet. 2024 Jan;32(1):37-43. doi: 10.1038/s41431-023-01407-8. Epub 2023 Jun 19. Eur J Hum Genet. 2024. PMID: 37337091 Free PMC article.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L. Jacquier A, et al. Among authors: stojkovic t. Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453. Brain. 2023. PMID: 36454683 Free PMC article.
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.
Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial.
Benveniste O, Hogrel JY, Belin L, Annoussamy M, Bachasson D, Rigolet A, Laforet P, Dzangué-Tchoupou G, Salem JE, Nguyen LS, Stojkovic T, Zahr N, Hervier B, Landon-Cardinal O, Behin A, Guilloux E, Reyngoudt H, Amelin D, Uruha A, Mariampillai K, Marty B, Eymard B, Hulot JS, Greenberg SA, Carlier PG, Allenbach Y. Benveniste O, et al. Among authors: stojkovic t. Lancet Rheumatol. 2021 Jan;3(1):e40-e48. doi: 10.1016/S2665-9913(20)30280-0. Epub 2020 Oct 12. Lancet Rheumatol. 2021. PMID: 38273639
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: stojkovic t. Brain. 2024 May 2:awae124. doi: 10.1093/brain/awae124. Online ahead of print. Brain. 2024. PMID: 38696726
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Ceprian M, Juntas-Morales R, Campbell G, Walther-Louvier U, Rivier F, Camu W, Esselin F, Echaniz-Laguna A, Stojkovic T, Bouhour F, Latour P, Tricaud N. Ceprian M, et al. Among authors: stojkovic t. Int J Mol Sci. 2024 Apr 15;25(8):4364. doi: 10.3390/ijms25084364. Int J Mol Sci. 2024. PMID: 38673950 Free PMC article.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Eur J Neurol. 2024 Apr 8:e16292. doi: 10.1111/ene.16292. Online ahead of print. Eur J Neurol. 2024. PMID: 38587143
436 results