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.
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.
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.
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.
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.
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.
[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].
Mori-Yoshimura M, Nishino I.
Brain Nerve. 2015 Sep;67(9):1115-23. doi: 10.11477/mf.1416200269.
Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.
Murakami N, Ihara Y, Nonaka I.
Acta Neuropathol. 1995;89(1):29-34. doi: 10.1007/BF00294256.
Oculopharyngodistal myopathy.
Yu J, Deng J, Wang Z.
Curr Opin Neurol. 2022 Oct 1;35(5):637-644. doi: 10.1097/WCO.0000000000001089. Epub 2022 Aug 4.
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M.
Biochim Biophys Acta. 2015 Apr;1852(4):644-50. doi: 10.1016/j.bbadis.2014.08.007. Epub 2014 Aug 19.
