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983 results

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AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q, Poblete NH, Angelini C, Hersent C, Benkirane M, Pointaux M, Larrieu L, Castrioto A, Deberge L, Fluchère F, Ramond F, Lesca G, Koenig M, Goizet C. Sabbagh Q, et al. Among authors: koenig m. J Neurol. 2025 Jan 17;272(2):154. doi: 10.1007/s00415-025-12889-5. J Neurol. 2025. PMID: 39821477 No abstract available.
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.
Capal JK, Ritter DM, Franz DN, Griffith M, Currans K, Kent B, Bebin EM, Northrup H, Koenig MK, Mizuno T, Vinks AA, Galandi SL, Zhang W, Setchell KDR, Kremer KM, Prada CM, Greiner HM, Holland-Bouley K, Horn PS, Krueger DA. Capal JK, et al. Among authors: koenig mk. Ann Child Neurol Soc. 2024 Jun;2(2):106-119. doi: 10.1002/cns3.20070. Epub 2024 Apr 22. Ann Child Neurol Soc. 2024. PMID: 39726432 Free PMC article.
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Perrin A, Garcia-Uzquiano R, Stojkovic T, Tard C, Metay C, Bergougnoux A, Van Goethem C, Thèze C, Larrieux M, Faure-Gautron H, Laporte J, Lefebvre G, Krahn M, Juntas-Morales R, Titin's Network Collaborators, Koenig M, Quijano-Roy S, Carlier RY, Cossée M. Perrin A, et al. Among authors: koenig m. Int J Mol Sci. 2024 Dec 3;25(23):12994. doi: 10.3390/ijms252312994. Int J Mol Sci. 2024. PMID: 39684706 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: koenig mk. 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.
Oral Glucocorticoids for Skin Fibrosis in Early Diffuse Systemic Sclerosis: A Target Trial Emulation Study From the European Scleroderma Trials and Research Group Database.
Mongin D, Matucci-Cerinic M, Walker UA, Distler O, Becvar R, Siegert E, Ananyeva LP, Smith V, Alegre-Sancho JJ, Yavuz S, Limonta M, Riemekasten G, Rezus E, Vonk M, Truchetet ME, Del Galdo F, Courvoisier DS, Iudici M; EUSTAR Collaborators. Mongin D, et al. Arthritis Care Res (Hoboken). 2024 Nov 14. doi: 10.1002/acr.25469. Online ahead of print. Arthritis Care Res (Hoboken). 2024. PMID: 39542851 Free article.
X-ray phase-contrast imaging of strong shocks on OMEGA EP.
Antonelli L, Theobald W, Barbato F, Atzeni S, Batani D, Betti R, Bouffetier V, Casner A, Ceurvorst L, Cao D, Ruby JJ, Glize K, Goudal T, Kar A, Khan M, Dearling A, Koenig M, Nilson PM, Scott RHH, Turianska O, Wei M, Woolsey NC. Antonelli L, et al. Among authors: koenig m. Rev Sci Instrum. 2024 Nov 1;95(11):113504. doi: 10.1063/5.0168059. Rev Sci Instrum. 2024. PMID: 39526998
983 results