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myopathy with rimmed vacuole相关文献:
Distal myopathy with rimmed vacuole formation. A follow-up study.
Sunohara N, Nonaka I, Kamei N, Satoyoshi E.
Brain. 1989 Feb;112 ( Pt 1):65-83. doi: 10.1093/brain/112.1.65.
PMID:2645018
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B.
Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31.
PMID:37000196
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B.
Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec.
PMID:33458580
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Owusu R, Savarese M.
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.
PMID:38406378
Inclusion Body Myositis: Update on Pathogenesis and Treatment.
Naddaf E, Barohn RJ, Dimachkie MM.
Neurotherapeutics. 2018 Oct;15(4):995-1005. doi: 10.1007/s13311-018-0658-8.
PMID:30136253
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
Yang K, Zeng YH, Qiu YS, Lin F, Chen HZ, Jin M, Chen L, Zheng FZ, Ding YL, Cao CY, Lin MT, Chen WJ, Wang ZQ, Wang N.
Acta Neuropathol. 2022 Jun;143(6):733-735. doi: 10.1007/s00401-022-02422-7. Epub 2022 May 2.
PMID:35499779
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Malicdan MC, Noguchi S, Nishino I.
Curr Opin Neurol. 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595.
PMID:18769255
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Nonaka I, Noguchi S, Nishino I.
Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5. doi: 10.1007/s11910-005-0025-0.
PMID:15676110
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S.
Acta Myol. 2005 Oct;24(2):80-3.
PMID:16550921
Distal myopathies.
Nonaka I.
Curr Opin Neurol. 1999 Oct;12(5):493-9. doi: 10.1097/00019052-199910000-00002.
PMID:10590885
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