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2023 | 2 |
2024 | 1 |
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Page 1
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256.
Brain. 2023.
PMID: 37503746
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V.
Johari M, et al. Among authors: dofash l.
medRxiv [Preprint]. 2024 Feb 11:2024.02.10.24302480. doi: 10.1101/2024.02.10.24302480.
medRxiv. 2024.
PMID: 38370827
Free PMC article.
Preprint.
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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Dofash LNH, Monahan GV, Servián-Morilla E, Rivas E, Faiz F, Sullivan P, Oates E, Clayton J, Taylor RL, Davis MR, Beilharz T, Laing NG, Cabrera-Serrano M, Ravenscroft G.
Dofash LNH, et al.
Hum Mol Genet. 2023 Mar 20;32(7):1127-1136. doi: 10.1093/hmg/ddac272.
Hum Mol Genet. 2023.
PMID: 36322148
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