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469 results

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Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Alfano LN, James MK, Grosfjeld Petersen K, Rudolf K, Vissing J, Augsburger R, Mozaffar T, Jones A, Butler A, Laubscher KM, Mockler SRH, Mathews KD, Iammarino MA, Reash NF, Pietruszewski L, Lowes LP, Strahler T, Wicklund M, Hunn S, Weihl CC, Sasidharan S, Currence M, Statland JM, Stinson N, Holzer M, Leung DG, Lott DJ, Kang PB, Holsten S, Desai U, Johnson NE; GRASP‐LGMD Consortium. Alfano LN, et al. Among authors: vissing j. Ann Clin Transl Neurol. 2024 Dec 15. doi: 10.1002/acn3.52276. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39675022 Free article.
Factors affecting the diagnostic delay of myasthenia gravis.
Marlet IR, Andersen RK, Axelsen KH, Andersen LK, Vissing J, Witting N. Marlet IR, et al. Among authors: vissing j. J Neurol. 2024 Dec 12;272(1):29. doi: 10.1007/s00415-024-12807-1. J Neurol. 2024. PMID: 39665854
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.
Holm-Yildiz S, Krag T, Dysgaard T, Pedersen BS, Witting N, Kodal LS, Kannuberg L, Pedersen JJ, Lyu Z, Aagaard MM, Vissing J. Holm-Yildiz S, et al. Among authors: vissing j. Neurol Genet. 2024 Dec 3;10(6):e200211. doi: 10.1212/NXG.0000000000200211. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39633713 Free PMC article.
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, Fortuna A, Alqahtani A, Kokkinis A, Dahlqvist J, Fenu S, Cavalca E, Bertini A, Mariotti C, Grunseich C, Kawase T, Kishimoto Y, Yamada S, Katsuno M, Fratta P, Conte A, Sabatelli M, Soraru G, Vissing J, Kang M, Park JS, Pareyson D, Viglietta V. Huggett SB, et al. Among authors: vissing j. Neurology. 2024 Dec 24;103(12):e210088. doi: 10.1212/WNL.0000000000210088. Epub 2024 Nov 26. Neurology. 2024. PMID: 39591556
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: vissing j. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Smeitink J, van Es J, Bosman B, Janssen MCH, Klopstock T, Gorman G, Vissing J, Ruiterkamp G, Edgar CJ, Abbink EJ, van Maanen R, Pogoryelova O, Stendel C, Bischoff A, Karin I, Munshi M, Kümmel A, Burgert L, Verhaak C, Renkema H. Smeitink J, et al. Among authors: vissing j. Brain. 2024 Nov 6:awae277. doi: 10.1093/brain/awae277. Online ahead of print. Brain. 2024. PMID: 39501914
469 results