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Quoted phrase not found in phrase index: "Oculopharyngodistal myopathy 3"
Page 1
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group; Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Kumutpongpanich T, et al. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. JAMA Neurol. 2021. PMID: 34047774 Free PMC article.
IMPORTANCE: Repeat expansion of CGG in LRP12 has been identified as the causative variation of oculopharyngodistal myopathy (OPDM). However, to our knowledge, the clinicopathologic features of OPDM with CGG repeat expansion in LRP12 (hereafter referred to as OPDM_LR …
IMPORTANCE: Repeat expansion of CGG in LRP12 has been identified as the causative variation of oculopharyngodistal myopathy (O …
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P. Durmus H, et al. Neurology. 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. Neurology. 2011. PMID: 21242490
BACKGROUND: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. ...Atypical presentations, such as absence of limb weakness in long-term follow-u …
BACKGROUND: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putati …
5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.
Xi J, Wang X, Yue D, Dou T, Wu Q, Lu J, Liu Y, Yu W, Qiao K, Lin J, Luo S, Li J, Du A, Dong J, Chen Y, Luo L, Yang J, Niu Z, Liang Z, Zhao C, Lu J, Zhu W, Zhou Y. Xi J, et al. Brain. 2021 Mar 3;144(2):601-614. doi: 10.1093/brain/awaa426. Brain. 2021. PMID: 33374016
Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. ...These results further support that non-coding CGG repeat expansion plays an essential role in the pa …
Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, …
NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report.
Ji G, Zhao Y, Zhang J, Dong H, Wu H, Chen X, Qi X, Tian Y, Shen L, Yang G, Song X. Ji G, et al. BMC Neurol. 2022 Jul 4;22(1):243. doi: 10.1186/s12883-022-02766-3. BMC Neurol. 2022. PMID: 35788208 Free PMC article.
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and distal limb muscle involvement. Recent research showed that GGC repeat expansions in the NOTCH2NLC gene were obser …
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, f …
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Ogasawara M, Eura N, Nagaoka U, Sato T, Arahata H, Hayashi T, Okamoto T, Takahashi Y, Mori-Yoshimura M, Oya Y, Nakamura A, Shimazaki R, Sano T, Kumutpongpanich T, Minami N, Hayashi S, Noguchi S, Iida A, Takao M, Nishino I. Ogasawara M, et al. Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12787. doi: 10.1111/nan.12787. Epub 2021 Dec 28. Neuropathol Appl Neurobiol. 2022. PMID: 34927285
AIMS: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). ...RESULTS: The p62-postive intranuclear inclusions were observed in all three cell types in both pati …
AIMS: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_ …