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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2021 | 1 |
2022 | 3 |
2024 | 0 |
PubMed (cited) for id: 620138
4 results
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A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Brain. 2022 Oct 21;145(10):e99-e102. doi: 10.1093/brain/awac286.
Brain. 2022.
PMID: 35915960
No abstract available.
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M.
Mezreani J, et al.
NPJ Genom Med. 2022 Jun 7;7(1):36. doi: 10.1038/s41525-022-00307-y.
NPJ Genom Med. 2022.
PMID: 35672413
Free PMC article.
Item in Clipboard
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L.
Salzer-Sheelo L, et al.
Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7.
Eur J Neurol. 2022.
PMID: 34935254
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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG.
Lopes Abath Neto O, et al.
Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275.
Brain. 2021.
PMID: 34581780
Free PMC article.
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