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Page 1
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: miles lb. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017 Free article.
CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit.
Miles LB, Calcinotto V, Oveissi S, Serrano RJ, Sonntag C, Mulia O, Lee C, Bryson-Richardson RJ. Miles LB, et al. Nat Commun. 2024 Jun 12;15(1):5011. doi: 10.1038/s41467-024-49341-7. Nat Commun. 2024. PMID: 38866742 Free PMC article.
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Wood AJ, Lin CH, Li M, Nishtala K, Alaei S, Rossello F, Sonntag C, Hersey L, Miles LB, Krisp C, Dudczig S, Fulcher AJ, Gibertini S, Conroy PJ, Siegel A, Mora M, Jusuf P, Packer NH, Currie PD. Wood AJ, et al. Among authors: miles lb. Nat Commun. 2021 May 19;12(1):2951. doi: 10.1038/s41467-021-23217-6. Nat Commun. 2021. PMID: 34012031 Free PMC article.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: miles lb. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736
15 results