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Page 1
Morphological and molecular comparison of HIV-associated and sporadic inclusion body myositis.
Vogt S, Kleefeld F, Preusse C, Arendt G, Bieneck S, Brunn A, Deckert M, Englert B, Goebel HH, Masuhr A, Neuen-Jacob E, Kornblum C, Reimann J, Montagnese F, Schoser B, Stenzel W, Hahn K. Vogt S, et al. Among authors: kornblum c. J Neurol. 2023 Sep;270(9):4434-4443. doi: 10.1007/s00415-023-11779-y. Epub 2023 Jun 6. J Neurol. 2023. PMID: 37280376 Free PMC article.
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: kornblum c. Radiologie (Heidelb). 2024 Apr 19. doi: 10.1007/s00117-024-01276-2. Online ahead of print. Radiologie (Heidelb). 2024. PMID: 38639916 Review. German.
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: kornblum c. Nervenarzt. 2024 Apr 29. doi: 10.1007/s00115-024-01673-x. Online ahead of print. Nervenarzt. 2024. PMID: 38683354 Review. German.
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Sarparanta J, Jonson PH, Reimann J, Vihola A, Luque H, Penttilä S, Johari M, Savarese M, Hackman P, Kornblum C, Udd B. Sarparanta J, et al. Among authors: kornblum c. Hum Mol Genet. 2023 Oct 17;32(21):3029-3039. doi: 10.1093/hmg/ddad058. Hum Mol Genet. 2023. PMID: 37070754 Free PMC article.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: kornblum c. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Online ahead of print. Eur J Neurol. 2024. PMID: 38576261
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: kornblum c. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: kornblum c. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, 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, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: kornblum c. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
108 results