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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1980 1
1981 1
1986 2
1988 1
1992 1
1993 1
1995 2
1996 1
1997 5
1998 2
1999 1
2002 2
2003 4
2004 2
2005 4
2006 4
2007 2
2008 3
2009 3
2010 1
2011 5
2012 6
2013 5
2014 4
2015 6
2016 9
2017 6
2018 4
2019 6
2020 6
2021 4
2022 8
2023 10
2024 1

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111 results

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Page 1
Distal myopathies.
Pénisson-Besnier I. Pénisson-Besnier I. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):534-45. doi: 10.1016/j.neurol.2012.09.021. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008050 Review.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. ...
Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular …
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy.
Kroon RHMJM, Horlings CGC, de Swart BJM, van Engelen BGM, Kalf JG. Kroon RHMJM, et al. J Neuromuscul Dis. 2020;7(4):483-494. doi: 10.3233/JAD-200511. J Neuromuscul Dis. 2020. PMID: 32804098 Free PMC article.
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. ...
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. ...
A study of impairments in oculopharyngeal muscular dystrophy.
Brisson JD, Gagnon C, Brais B, Côté I, Mathieu J. Brisson JD, et al. Muscle Nerve. 2020 Aug;62(2):201-207. doi: 10.1002/mus.26888. Epub 2020 May 22. Muscle Nerve. 2020. PMID: 32270505
INTRODUCTION: In this study we aimed to document the prevalence and age of onset of motor impairments and other key symptoms in oculopharyngeal muscular dystrophy (OPMD). METHODS: Retrospective chart review of patients followed at the Saguenay Neuromuscular C …
INTRODUCTION: In this study we aimed to document the prevalence and age of onset of motor impairments and other key symptoms in oculophar …
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.
DESIGN, SETTING, AND PARTICIPANTS: This case series included 208 patients with a clinical or clinicopathologic diagnosis of oculopharyngeal muscular dystrophy (OPDM) from January 1, 1978, to December 31, 2020. ...
DESIGN, SETTING, AND PARTICIPANTS: This case series included 208 patients with a clinical or clinicopathologic diagnosis of oculopharynge …
Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.
Brisson JD, Brais B, Mathieu J, Lessard I, Gagné-Ouellet V, Côté I, Gagnon C. Brisson JD, et al. Muscle Nerve. 2023 Nov;68(6):841-849. doi: 10.1002/mus.27984. Epub 2023 Oct 17. Muscle Nerve. 2023. PMID: 37849345
INTRODUCTION/AIMS: Muscle weakness, and its association with mobility limitations, has received little study in oculopharyngeal muscular dystrophy (OPMD) using quantitative and standardized assessments. ...
INTRODUCTION/AIMS: Muscle weakness, and its association with mobility limitations, has received little study in oculopharyngeal mu …
Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.
Forgues C, Fortin J, Gagnon C, Brisson JD, Mathieu J, Brais B, Côté C. Forgues C, et al. Can J Diet Pract Res. 2021 Jun 1;82(2):95-97. doi: 10.3148/cjdpr-2021-003. Epub 2021 Apr 20. Can J Diet Pract Res. 2021. PMID: 33876991
Purpose: To document the nutritional risk in adults with oculopharyngeal muscular dystrophy (OPMD) and its association with oropharyngeal dysphagia.Methods: In this cross-sectional study, 33 adults with molecular confirmation of OPMD between 50 and 75 years o …
Purpose: To document the nutritional risk in adults with oculopharyngeal muscular dystrophy (OPMD) and its association …
Oculopharyngeal Muscular Dystrophy Ptosis, Mueller's Muscle Involvement, and a Review of Management Over 34 Years.
Jordan DR, Klapper SR, Farmer J. Jordan DR, et al. Ophthalmic Plast Reconstr Surg. 2022 Nov-Dec 01;38(6):535-542. doi: 10.1097/IOP.0000000000002118. Epub 2022 Jan 13. Ophthalmic Plast Reconstr Surg. 2022. PMID: 35030153 Review.
PURPOSE: To review the management of the ptosis associated with oculopharyngeal muscular dystrophy (OPMD) from one author's experience over 34 years, demonstrate Mueller's muscle involvement in this disease, and how this impacts the preferred choice of surger …
PURPOSE: To review the management of the ptosis associated with oculopharyngeal muscular dystrophy (OPMD) from one auth …
Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.
Lin TY, Chen AD, Chang CH, Liang WC, Minami N, Nishino I, Lai CS. Lin TY, et al. Ann Plast Surg. 2020 Jan;84(1S Suppl 1):S84-S88. doi: 10.1097/SAP.0000000000002198. Ann Plast Surg. 2020. PMID: 31833892 Review.
BACKGROUND: Blepharoptosis correction in oculopharyngeal muscular dystrophy (OPMD) patients may result in severe ocular complications owing to lagophthalmos and ophthalmoplegia. ...METHODS: A review of the literature for severe chemosis, keratopathy, and corn …
BACKGROUND: Blepharoptosis correction in oculopharyngeal muscular dystrophy (OPMD) patients may result in severe ocular …
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy.
Youssof S. Youssof S. Muscle Nerve. 2016 May;53(5):694-9. doi: 10.1002/mus.24932. Epub 2016 Mar 1. Muscle Nerve. 2016. PMID: 26453481 Free PMC article.
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. ...
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. ...
111 results