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Page 1
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP; Inherited Neuropathy Consortium; Dohrn MF, Züchner S. Xu IRL, et al. Among authors: stojkovic t. J Peripher Nerv Syst. 2024 Apr 5. doi: 10.1111/jns.12621. Online ahead of print. J Peripher Nerv Syst. 2024. PMID: 38581130
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
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
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: stojkovic t. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
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
Clinical Indicators of Bone Deterioration in Alcoholic Liver Cirrhosis and Chronic Alcohol Abuse: Looking beyond Bone Fracture Occurrence.
Stulic M, Jadzic J, Dostanic N, Zivkovic M, Stojkovic T, Aleksic J, Stojkovic S, Stojkovic Lalosevic M, Vojnovic M, Vlaisavljevic Z, Martinov Nestorov J, Nikolić T, Culafic Vojinovic V, Culafic D, Djonic D. Stulic M, et al. Among authors: stojkovic t. Diagnostics (Basel). 2024 Feb 28;14(5):510. doi: 10.3390/diagnostics14050510. Diagnostics (Basel). 2024. PMID: 38472981 Free PMC article.
436 results