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115 results

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Page 1
[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 Aug;64(8):653-662. doi: 10.1007/s00117-024-01276-2. Epub 2024 Apr 19. Radiologie (Heidelb). 2024. PMID: 38639916 Review. German.
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. Nervenarzt. 2024 Aug;95(8):721-729. doi: 10.1007/s00115-024-01673-x. 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.
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey.
Mancuso M, Colitta A, Lavorato M, Van den Bergh P, Kirschner J, Kornblum C, Maggi L, Lamy F, Lochmüller H, Nordstrøm M, Malfatti E, Ferlini A, Pareyson D, Silani V, Kleopa KA, de Visser M, Atalaia A, Evangelista T. Mancuso M, et al. Among authors: kornblum c. Orphanet J Rare Dis. 2025 May 8;20(1):221. doi: 10.1186/s13023-025-03742-z. Orphanet J Rare Dis. 2025. PMID: 40340786 Free PMC article.
280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024.
Mancuso M, Lopriore P, Semmler L, Kornblum C; 280th ENMC workshop study group. Mancuso M, et al. Among authors: kornblum c. Neuromuscul Disord. 2025 May;50:105340. doi: 10.1016/j.nmd.2025.105340. Epub 2025 Mar 22. Neuromuscul Disord. 2025. PMID: 40273815 Free article.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S; as the Hong Kong Mitochondrial Diseases Interest Group; Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL. Ivaniuk A, et al. Among authors: kornblum c. Neurology. 2025 Feb 25;104(4):e209779. doi: 10.1212/WNL.0000000000209779. Epub 2025 Jan 30. Neurology. 2025. PMID: 39883904
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: kornblum c. 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.
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
115 results