-
1
-
-
33846440511
-
Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies
-
DOI 10.1016/j.bbadis.2006.10.003, PII S0925443906002018
-
Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007;1772(2):173-85. (Pubitemid 46138035)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.2
, pp. 173-185
-
-
Abu-Baker, A.1
Rouleau, G.A.2
-
2
-
-
14044279355
-
Oculopharyngeal muscular dystrophy (OPMD): Analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism
-
DOI 10.1007/s00439-004-1235-2
-
Robinson DO, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet. 2005;116(4):267-71. (Pubitemid 40277238)
-
(2005)
Human Genetics
, vol.116
, Issue.4
, pp. 267-271
-
-
Robinson, D.O.1
Hammans, S.R.2
Read, S.P.3
Sillibourne, J.4
-
3
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
DOI 10.1038/ng0298-164
-
Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18(2):164-7. (Pubitemid 28082465)
-
(1998)
Nature Genetics
, vol.18
, Issue.2
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.-P.2
Xie, Y.-G.3
Rochefort, D.L.4
Chretien, N.5
Tome, F.M.S.6
Lafreniere, R.G.7
Rommens, J.M.8
Uyama, E.9
Nohira, O.10
Blumen, S.11
Korcyn, A.D.12
Heutink, P.13
Mathieu, J.14
Duranceau, A.15
Codere, F.16
Fardeau, M.17
Rouleau, G.A.18
-
4
-
-
33947185940
-
Siblings with recessive oculopharyngeal muscular dystrophy
-
DOI 10.1016/j.nmd.2006.11.009, PII S0960896606006237
-
Hebbar S, Webberley MJ, Lunt P, Robinson DO. Siblings with recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2007;17(3):254-7. (Pubitemid 46413754)
-
(2007)
Neuromuscular Disorders
, vol.17
, Issue.3
, pp. 254-257
-
-
Hebbar, S.1
Webberley, M.J.2
Lunt, P.3
Robinson, D.O.4
-
5
-
-
0035100386
-
Oculopharyngeal muscular dystrophy phenotypic and genotypic studies in a UK population
-
Hill ME, Creed GA, McMullan TF, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain. 2001;124(Pt 3):522-6. (Pubitemid 32221319)
-
(2001)
Brain
, vol.124
, Issue.3
, pp. 522-526
-
-
Hill, M.E.1
Creed, G.A.2
McMullan, T.F.W.3
Tyers, A.G.4
Hilton-Jones, D.5
Robinson, D.O.6
Hammans, S.R.7
-
6
-
-
34247556900
-
Variability of the recessive oculopharyngeal muscular dystrophy phenotype
-
DOI 10.1002/mus.20726
-
Semmler A, Kress W, Vielhaber S, Schroder R, Kornblum C. Variability of the recessive oculopharyngeal muscular dystrophy phenotype. Muscle Nerve. 2007;35(5):681-4. (Pubitemid 46676860)
-
(2007)
Muscle and Nerve
, vol.35
, Issue.5
, pp. 681-684
-
-
Semmler, A.1
Kress, W.2
Vielhaber, S.3
Schroder, R.4
Kornblum, C.5
-
7
-
-
84867334797
-
Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy
-
Tondo M, Gamez J, Gutierrez-Rivas E, Medel-Jimenez R, Martorell L. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(8):1546-52.
-
(2012)
J Neurol
, vol.259
, Issue.8
, pp. 1546-1552
-
-
Tondo, M.1
Gamez, J.2
Gutierrez-Rivas, E.3
Medel-Jimenez, R.4
Martorell, L.5
-
8
-
-
0035930104
-
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans
-
Becher MW, Morrison L, Davis LE, et al. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA. 2001; 286(19):2437-40. (Pubitemid 33098162)
-
(2001)
Journal of the American Medical Association
, vol.286
, Issue.19
, pp. 2437-2440
-
-
Becher, M.W.1
Morrison, L.2
Davis, L.E.3
Maki, W.C.4
King, M.K.5
Bicknell, J.M.6
Reinert, B.L.7
Bartolo, C.8
Bear, D.G.9
-
9
-
-
0033009388
-
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
-
DOI 10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O
-
Blumen SC, Brais B, Korczyn AD, et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol. 1999;46(1):115-18. (Pubitemid 29314390)
-
(1999)
Annals of Neurology
, vol.46
, Issue.1
, pp. 115-118
-
-
Blumen, S.C.1
Brais, B.2
Korczyn, A.D.3
Medinsky, S.4
Chapman, J.5
Asherov, A.6
Nisipeanu, P.7
Codere, F.8
Bouchard, J.-P.9
Fardeau, M.10
Tome, F.M.S.11
Rouleau, G.A.12
-
10
-
-
0029989058
-
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews
-
Blumen SC, Sadeh M, Korczyn AD, et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology. 1996;46(5):1324-8. (Pubitemid 26164647)
-
(1996)
Neurology
, vol.46
, Issue.5
, pp. 1324-1328
-
-
Blumen, S.C.1
Sadeh, M.2
Korczyn, A.D.3
Rouche, A.4
Nisipeanu, P.5
Asherov, A.6
Tome, F.M.S.7
-
11
-
-
69449085867
-
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
-
Blumen SC, Bouchard JP, Brais B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology. 2009;73(8):596-601.
-
(2009)
Neurology
, vol.73
, Issue.8
, pp. 596-601
-
-
Blumen, S.C.1
Bouchard, J.P.2
Brais, B.3
-
12
-
-
84862583612
-
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
-
Dubbioso R, Moretta P, Manganelli F, et al. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(5):833-7.
-
(2012)
J Neurol
, vol.259
, Issue.5
, pp. 833-837
-
-
Dubbioso, R.1
Moretta, P.2
Manganelli, F.3
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