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Items: 1 to 20 of 143

1.

Oculopharyngeal muscular dystrophy associated with dementia.

Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N.

Intern Med. 2011;50(20):2409-12. Epub 2011 Oct 15.

2.

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. doi: 10.1136/bjo.2007.131482.

PMID:
18577654
3.

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.

Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I.

Neuromuscul Disord. 2005 Mar;15(3):262-4. Epub 2005 Jan 28.

PMID:
15725589
4.

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes.

Blumen SC, Bouchard JP, Brais B, Carasso RL, Paleacu D, Drory VE, Chantal S, Blumen N, Braverman I.

Neurology. 2009 Aug 25;73(8):596-601. doi: 10.1212/WNL.0b013e3181b388a3.

PMID:
19704078
5.

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.

PMID:
17138075
6.

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.

Dubbioso R, Moretta P, Manganelli F, Fiorillo C, Iodice R, Trojano L, Santoro L.

J Neurol. 2012 May;259(5):833-7. doi: 10.1007/s00415-011-6255-y. Epub 2011 Sep 29.

PMID:
21956377
7.

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.

Kuo HC, Chen CM, Lee-Chen GJ, Hu FJ, Chu CC, Liou CW, Huang CC.

J Neurol Sci. 2009 Mar 15;278(1-2):21-4. doi: 10.1016/j.jns.2008.11.001. Epub 2008 Dec 20.

PMID:
19101703
8.

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

Nadaj-Pakleza A, Richard P, Lusakowska A, Gajewska J, Jamrozik Z, Kostera-Pruszczyk A, Kwieciński H, Kamińska A.

Neurol Neurochir Pol. 2009 Mar-Apr;43(2):113-20.

PMID:
19484687
9.

[A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene].

Tokutake T, Ikeuchi T, Tanaka K, Onodera O, Nishizawa M.

Rinsho Shinkeigaku. 2005 Jun;45(6):437-40. Japanese.

PMID:
16022469
10.

[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].

Nakashima D, Nakajima H, Ishida S, Sugino M, Kimura F, Hanafusa T.

Rinsho Shinkeigaku. 2003 Sep;43(9):560-3. Japanese.

PMID:
14727564
11.

Siblings with recessive oculopharyngeal muscular dystrophy.

Hebbar S, Webberley MJ, Lunt P, Robinson DO.

Neuromuscul Disord. 2007 Mar;17(3):254-7. Epub 2007 Feb 12.

PMID:
17296297
13.

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).

Marsh EA, Robinson DO.

Clin Neurol Neurosurg. 2008 May;110(5):525-8. doi: 10.1016/j.clineuro.2008.02.007. Epub 2008 Mar 21.

PMID:
18358598
14.

Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy.

Fischmann A, Gloor M, Fasler S, Haas T, Rodoni Wetzel R, Bieri O, Wetzel S, Heinimann K, Scheffler K, Fischer D.

J Neurol. 2011 Jul;258(7):1333-40. doi: 10.1007/s00415-011-5937-9. Epub 2011 Feb 22.

PMID:
21340522
15.

Oculopharyngeal Muscular Dystrophy.

Trollet C, Gidaro T, Klein P, Périé S, Butler-Browne G, Lacau St Guily J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Mar 8 [updated 2014 Feb 20].

16.

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

Van Der Sluijs BM, Hoefsloot LH, Padberg GW, Van Der Maarel SM, Van Engelen BG.

J Neurol. 2003 Nov;250(11):1307-12.

PMID:
14648146
17.

Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy.

Jadeja KJ, Grewal RP.

J Clin Neurosci. 2003 Jan;10(1):125-7.

PMID:
12464544
18.

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

Gürtler N, Plasilova M, Podvinec M, Boesch N, Müller H, Heinimann K.

Laryngoscope. 2006 Jan;116(1):111-4.

PMID:
16481821
19.

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.

van der Sluijs BM, van Engelen BG, Hoefsloot LH.

Hum Mutat. 2003 May;21(5):553.

PMID:
12673802
20.

Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.

Davies JE, Wang L, Garcia-Oroz L, Cook LJ, Vacher C, O'Donovan DG, Rubinsztein DC.

Nat Med. 2005 Jun;11(6):672-7. Epub 2005 May 1.

PMID:
15864313

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