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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: marquardt t. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Sacral Neural Crest-Independent Origin of the Enteric Nervous System in Mouse.
Yu Q, Liu L, Du M, Müller D, Gu Y, Gao Z, Xin X, Gu Y, He M, Marquardt T, Wang L. Yu Q, et al. Among authors: marquardt t. Gastroenterology. 2024 Mar 5:S0016-5085(24)00241-5. doi: 10.1053/j.gastro.2024.02.034. Online ahead of print. Gastroenterology. 2024. PMID: 38452824 Free article.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: marquardt t. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Mütze U, et al. Among authors: marquardt t. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23. Ann Clin Transl Neurol. 2024. PMID: 38263760 Free PMC article.
Clinical Manifestations and Genomic Evaluation of Melioidosis Outbreak among Children after Sporting Event, Australia.
Smith S, Marquardt T, Jennison AV, D'Addona A, Stewart J, Yarwood T, Ho J, Binotto E, Harris J, Fahmy M, Esmonde J, Richardson M, Graham RMA, Gair R, Ariotti L, Preston-Thomas A, Rubenach S, O'Sullivan S, Allen D, Ragh T, Grayson S, Manoy S, Warner JM, Meumann EM, Robson JM, Hanson J. Smith S, et al. Among authors: marquardt t. Emerg Infect Dis. 2023 Nov;29(11):2218-2228. doi: 10.3201/eid2911.230951. Emerg Infect Dis. 2023. PMID: 37877500 Free PMC article. Review.
337 results