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Quoted phrase not found in phrase index: "Oculopharyngodistal myopathy 1"
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 …
Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Shimizu T, Ishiura H, Hara M, Shibata S, Unuma A, Kubota A, Sakuishi K, Inoue K, Goto J, Takahashi Y, Shirota Y, Hamada M, Shimizu J, Tsuji S, Toda T. Shimizu T, et al. Muscle Nerve. 2022 Dec;66(6):679-685. doi: 10.1002/mus.27717. Epub 2022 Sep 27. Muscle Nerve. 2022. PMID: 36052448
INTRODUCTION/AIMS: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). ...
INTRODUCTION/AIMS: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been iden …
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I. Ogasawara M, et al. Acta Neuropathol Commun. 2022 Dec 7;10(1):176. doi: 10.1186/s40478-022-01482-w. Acta Neuropathol Commun. 2022. PMID: 36476314 Free PMC article.
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. ...We found that myonuclei with p62-positive intra-nuclear inclusions (myo-INIs) were …
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistin …
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
Eura N, Noguchi S, Ogasawara M, Kumutpongpanich T, Hayashi S, Nishino I; OPDM/OPMD Image Study Group. Eura N, et al. J Neurol. 2023 Dec;270(12):5988-5998. doi: 10.1007/s00415-023-11906-9. Epub 2023 Aug 27. J Neurol. 2023. PMID: 37634163
BACKGROUND AND OBJECTIVES: Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. ...
BACKGROUND AND OBJECTIVES: Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by d …
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Yang X, Zhang D, Shen S, Li P, Li M, Niu J, Ma D, Xu D, Li S, Guo X, Wang Z, Zhao Y, Ren H, Ling C, Wang Y, Fan Y, Shen J, Zhu Y, Wang D, Cui L, Chen L, Shi C, Dai Y. Yang X, et al. BMC Med Genomics. 2023 Oct 20;16(1):253. doi: 10.1186/s12920-023-01586-9. BMC Med Genomics. 2023. PMID: 37864208 Free PMC article.
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. ...
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterize …
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, …
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). ...METHODS: We analysed the frequency of p62-positive intranuclear inclusions in sweat gland cells, adipocyte …
AIMS: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_ …
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.
Mignarri A, Carluccio MA, Malandrini A, Sicurelli F, Galli L, Mazzei MA, Federico A, Orrico A, Dotti MT. Mignarri A, et al. Neuromuscul Disord. 2012 Aug;22(8):759-62. doi: 10.1016/j.nmd.2012.03.010. Epub 2012 May 29. Neuromuscul Disord. 2012. PMID: 22652077
Oculopharyngodistal myopathy is a clinicopathologically distinct muscular disease. ...This is the first Italian case of oculopharyngodistal myopathy, further suggesting the worldwide distribution of this rare neuromuscular disorder....
Oculopharyngodistal myopathy is a clinicopathologically distinct muscular disease. ...This is the first Italian case of ocu …
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. Ogasawara M, et al. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. Acta Neuropathol Commun. 2020. PMID: 33239111 Free PMC article.
Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. ...The sample for EM was available only from one patient, …
Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, pto …
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. ...
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, f …
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