Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

111 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
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 Aug;64(8):653-662. doi: 10.1007/s00117-024-01276-2. Epub 2024 Apr 19. 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 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.
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.
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT. Schoser B, et al. Among authors: kornblum c. Eur J Neurol. 2024 Sep;31(9):e16383. doi: 10.1111/ene.16383. Epub 2024 Jun 14. Eur J Neurol. 2024. PMID: 38873957 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 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
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.
111 results