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154 related items for PubMed ID: 11139982
21. Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy. Bae JS, Ki CS, Kim JW, Kim BJ. J Clin Neurosci; 2007 Jan; 14(1):89-92. PubMed ID: 17138075 [Abstract] [Full Text] [Related]
22. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Trollet C, Boulinguiez A, Roth F, Stojkovic T, Butler-Browne G, Evangelista T, Lacau St Guily J, Richard P. ; 1993 Jan. PubMed ID: 20301305 [Abstract] [Full Text] [Related]
23. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Pauzner R, Blatt I, Mouallem M, Ben-David E, Farfel Z, Sadeh M. Muscle Nerve; 1991 Oct; 14(10):947-52. PubMed ID: 1944407 [Abstract] [Full Text] [Related]
24. Oculopharyngeal muscular dystrophy in an Irish family. Eustace S, Gleeson C, Joyce M, Sullivan P. Ir J Med Sci; 1989 May; 158(5):120. PubMed ID: 2759812 [Abstract] [Full Text] [Related]
25. Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. Blumen SC, Nisipeanu P, Sadeh M, Asherov A, Tomé FM, Korczyn AD. Neuromuscul Disord; 1993 May; 3(5-6):575-7. PubMed ID: 8186715 [Abstract] [Full Text] [Related]
26. Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects. Rivera D, Mejia-Lopez H, Pompa-Mera EN, Villanueva-Mendoza C, Nava-Castañeda A, Garnica-Hayashi L, Cuevas-Covarrubias S, Zenteno JC. Br J Ophthalmol; 2008 Jul; 92(7):998-1002. PubMed ID: 18577654 [Abstract] [Full Text] [Related]
28. [Clinical and genetic heterogeneity of limb-girdle muscular dystrophy]. Kozłowska M. Neurol Neurochir Pol; 1995 Sep; 29(4):569-75. PubMed ID: 8544936 [Abstract] [Full Text] [Related]
29. [Clinicopathological study of a case of oculopharyngeal muscular dystrophy]. Moreno Martínez JM, Martín Araguz A, García de la Rocha ML, Masjuán Vallejo J, Barón Rubio M, Ginel Feito MD. Arch Neurobiol (Madr); 1991 Sep; 54(5):229-32. PubMed ID: 1804038 [Abstract] [Full Text] [Related]
30. Oculopharyngeal muscular dystrophy in Japan. Uyama E, Nohira O, Tomé FM, Chateau D, Tokunaga M, Ando M, Maki M, Okabe T, Uchino M. Neuromuscul Disord; 1997 Oct; 7 Suppl 1():S41-9. PubMed ID: 9392015 [Abstract] [Full Text] [Related]
31. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Nakamoto M, Nakano S, Kawashima S, Ihara M, Nishimura Y, Shinde A, Kakizuka A. Arch Neurol; 2002 Mar; 59(3):474-7. PubMed ID: 11890856 [Abstract] [Full Text] [Related]
32. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Blumen SC, Brais B, Korczyn AD, Medinsky S, Chapman J, Asherov A, Nisipeanu P, Codère F, Bouchard JP, Fardeau M, Tomé FM, Rouleau GA. Ann Neurol; 1999 Jul; 46(1):115-8. PubMed ID: 10401788 [Abstract] [Full Text] [Related]
34. Oculopharyngeal muscular dystrophy. Adamczyk DT, Oshinskie L. J Am Optom Assoc; 1987 May 20; 58(5):408-12. PubMed ID: 3584810 [Abstract] [Full Text] [Related]
35. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. Minami N, Ikezoe K, Kuroda H, Nakabayashi H, Satoyoshi E, Nonaka I. Neuromuscul Disord; 2001 Nov 20; 11(8):699-702. PubMed ID: 11595511 [Abstract] [Full Text] [Related]
36. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Wong KT, Dick D, Anderson JR. Neuromuscul Disord; 1996 May 20; 6(3):163-6. PubMed ID: 8784803 [Abstract] [Full Text] [Related]
37. Emerging and established biomarkers of oculopharyngeal muscular dystrophy. Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J. Neuromuscul Disord; 2023 Nov 20; 33(11):824-834. PubMed ID: 37926637 [Abstract] [Full Text] [Related]
38. Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. Agarwal PK, Mansfield DC, Mechan D, Al-Shahi Salman R, Davenport RJ, Connor M, Metcalfe R, Petty R. Br J Ophthalmol; 2012 Feb 20; 96(2):281-3. PubMed ID: 21602480 [Abstract] [Full Text] [Related]
40. Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I. Isr Med Assoc J; 2013 Dec 20; 15(12):748-52. PubMed ID: 24449978 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]