-
1
-
-
0016779784
-
Autosomal recessive oculopharyngeal muscular dystrophy
-
Fried K., Arlozorov A., and Spira R. Autosomal recessive oculopharyngeal muscular dystrophy. J. Med. Genet. 12 (1975) 416-418
-
(1975)
J. Med. Genet.
, vol.12
, pp. 416-418
-
-
Fried, K.1
Arlozorov, A.2
Spira, R.3
-
3
-
-
0033060450
-
Oculopharyngeal muscular dystrophy
-
Brais B., Rouleau G.A., Bouchard J.P., Fardeau M., and Tome F.M. Oculopharyngeal muscular dystrophy. Semin. Neurol. 19 (1999) 59-66
-
(1999)
Semin. Neurol.
, vol.19
, pp. 59-66
-
-
Brais, B.1
Rouleau, G.A.2
Bouchard, J.P.3
Fardeau, M.4
Tome, F.M.5
-
4
-
-
84939092946
-
Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group family diseases
-
Taylor E.W. Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group family diseases. J. Nerv. Ment. Dis. 42 (1915) 129-139
-
(1915)
J. Nerv. Ment. Dis.
, vol.42
, pp. 129-139
-
-
Taylor, E.W.1
-
5
-
-
0000232611
-
Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids
-
Victor M., Hayes R., and Adams R.D. Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N. Engl. J. Med. 267 (1962) 1267-1272
-
(1962)
N. Engl. J. Med.
, vol.267
, pp. 1267-1272
-
-
Victor, M.1
Hayes, R.2
Adams, R.D.3
-
6
-
-
0020606723
-
Familial oculopharyngeal muscular dystrophy with distal spread
-
Vita G., Dattola R., Santoro M., and Messina C. Familial oculopharyngeal muscular dystrophy with distal spread. J. Neurol. (1983) 57-64
-
(1983)
J. Neurol.
, pp. 57-64
-
-
Vita, G.1
Dattola, R.2
Santoro, M.3
Messina, C.4
-
7
-
-
0026865870
-
Oculopharyngeal muscular dystrophy: a case report and a review of literature
-
Lim C.T., Chew C.T., and Chew S.H. Oculopharyngeal muscular dystrophy: a case report and a review of literature. Ann. Acad. Med. Singap. 21 (1992) 399-403
-
(1992)
Ann. Acad. Med. Singap.
, vol.21
, pp. 399-403
-
-
Lim, C.T.1
Chew, C.T.2
Chew, S.H.3
-
8
-
-
0027772248
-
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews
-
Blumen S.C., Nisipeanu P., Sadeh M., Asherov A., Tome F.M., and Korczyn A.D. Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. Neuromuscul. Disord. 3 (1993) 575-577
-
(1993)
Neuromuscul. Disord.
, vol.3
, pp. 575-577
-
-
Blumen, S.C.1
Nisipeanu, P.2
Sadeh, M.3
Asherov, A.4
Tome, F.M.5
Korczyn, A.D.6
-
9
-
-
0028894536
-
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
-
Jongen P.J., Ter Laak H.L., and Stadhouders A.M. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul. Disord. 5 (1995) 31-38
-
(1995)
Neuromuscul. Disord.
, vol.5
, pp. 31-38
-
-
Jongen, P.J.1
Ter Laak, H.L.2
Stadhouders, A.M.3
-
10
-
-
0030000607
-
Oculopharyngeal muscular dystrophy in two unrelated Japanese families
-
Uyama E., Nohira O., Chateau D., Tokunaga M., Uchino M., Okabe T., Ando M., and Tome F.M. Oculopharyngeal muscular dystrophy in two unrelated Japanese families. Neurology 46 (1996) 773-778
-
(1996)
Neurology
, vol.46
, pp. 773-778
-
-
Uyama, E.1
Nohira, O.2
Chateau, D.3
Tokunaga, M.4
Uchino, M.5
Okabe, T.6
Ando, M.7
Tome, F.M.8
-
11
-
-
0031048466
-
Oculopharyngeal muscular dystrophy (OPMD)-Report and genetic studies of an Australian Kindred
-
The B.T., Sullivan A.A., Farnebo F., Zander C., Li F.Y., Strachan N., Schalling M., Larsson C., and Sandstrom P. Oculopharyngeal muscular dystrophy (OPMD)-Report and genetic studies of an Australian Kindred. Clin. Genet. 51 (1997) 52-55
-
(1997)
Clin. Genet.
, vol.51
, pp. 52-55
-
-
The, B.T.1
Sullivan, A.A.2
Farnebo, F.3
Zander, C.4
Li, F.Y.5
Strachan, N.6
Schalling, M.7
Larsson, C.8
Sandstrom, P.9
-
12
-
-
0030840345
-
Oculopharyngeal muscular dystrophy in France
-
Fardeau M., and Tome F.M. Oculopharyngeal muscular dystrophy in France. Neuromuscul. Disord. 7 Suppl. 1 (1997) S30-S33
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Fardeau, M.1
Tome, F.M.2
-
13
-
-
0030856332
-
Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel
-
(Suppl. 1)
-
Blumen S.C., Nisipeau P., Sadeh M., Asherov A., Blumen N., Wirguin Y., Khilkevich O., Carasso R.L., and Korczyn A.D. Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul. Disord. vol. 7 (1997) S38-S40 (Suppl. 1)
-
(1997)
Neuromuscul. Disord.
, vol.7
-
-
Blumen, S.C.1
Nisipeau, P.2
Sadeh, M.3
Asherov, A.4
Blumen, N.5
Wirguin, Y.6
Khilkevich, O.7
Carasso, R.L.8
Korczyn, A.D.9
-
14
-
-
0030817268
-
Oculopharyngeal muscular dystrophy in Urguay
-
Medici M., Pizzarossa C., Skuk D., Yorio D., Emmanuelli G., and Mesa R. Oculopharyngeal muscular dystrophy in Urguay. Neuromuscul. Disord. 7 Suppl. 1 (1997) S50-S52
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Medici, M.1
Pizzarossa, C.2
Skuk, D.3
Yorio, D.4
Emmanuelli, G.5
Mesa, R.6
-
15
-
-
0030729242
-
Oculopharyngeal muscular dystrophy in Italy
-
Meola G., Sansone V., Rotondo G., Tome F.M., and Bouchard J.P. Oculopharyngeal muscular dystrophy in Italy. Neuromuscul. Disord. 7 Suppl. 1 (1997) S53-S56
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Meola, G.1
Sansone, V.2
Rotondo, G.3
Tome, F.M.4
Bouchard, J.P.5
-
16
-
-
0030731710
-
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
-
Porschke H., Kress W., Reichmann H., Goebel H.H., and Grimm T. Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. Neuromuscul. Disord. 7 Suppl. 1 (1997) S57-S62
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Porschke, H.1
Kress, W.2
Reichmann, H.3
Goebel, H.H.4
Grimm, T.5
-
17
-
-
0028915818
-
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
-
Brais B., Xie Y.G., Sanson M., Morgan K., Weissenbach J., Korczyn A.D., Blumen S.C., Fardeau M., Tome F.M., Bouchard J.P., and Rouleau G.A. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Hum. Mol. Genet. 4 (1995) 429-434
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 429-434
-
-
Brais, B.1
Xie, Y.G.2
Sanson, M.3
Morgan, K.4
Weissenbach, J.5
Korczyn, A.D.6
Blumen, S.C.7
Fardeau, M.8
Tome, F.M.9
Bouchard, J.P.10
Rouleau, G.A.11
-
18
-
-
33846431382
-
Dytrophie musculaire oculopharyngee. Recensement des familles francaises et etude genealogique
-
Brunet G., Tome F.M., Samson F., et al. Dytrophie musculaire oculopharyngee. Recensement des familles francaises et etude genealogique. Rev. Neurol. 4 (1990) 429-434
-
(1990)
Rev. Neurol.
, vol.4
, pp. 429-434
-
-
Brunet, G.1
Tome, F.M.2
Samson, F.3
-
20
-
-
0002827582
-
-
Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
-
Tomé F., and Fardeau M. In: Engel A.G., and Franzini-Armstrong C. (Eds). Oculopharyngeal muscular dystrophy. Myology vol. 2 (1994), McGraw-Hill, New York 1233-1245
-
(1994)
Myology
, vol.2
, pp. 1233-1245
-
-
Tomé, F.1
Fardeau, M.2
-
21
-
-
0037301515
-
Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy
-
Fan X., and Rouleau G.A. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Can. J. Neurol. Sci. 30 (2003) 8-14
-
(2003)
Can. J. Neurol. Sci.
, vol.30
, pp. 8-14
-
-
Fan, X.1
Rouleau, G.A.2
-
22
-
-
0018865908
-
Nuclear inclusions in oculopharyngeal dystrophy
-
Tome F.M., and Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. (Berl.) 49 (1980) 85-87
-
(1980)
Acta Neuropathol. (Berl.)
, vol.49
, pp. 85-87
-
-
Tome, F.M.1
Fardeau, M.2
-
23
-
-
28944432547
-
Oculopharyngeal muscular dystrophy an under-diagnosed disorder?
-
Rüegg S., Lehky Hagen M., Hohl U., Kappos L., Fuhr P., Plasilov M., Hüller H., and Heinimann K. Oculopharyngeal muscular dystrophy an under-diagnosed disorder?. Swiss Med. Wkly. 135 (2005) 574-586
-
(2005)
Swiss Med. Wkly.
, vol.135
, pp. 574-586
-
-
Rüegg, S.1
Lehky Hagen, M.2
Hohl, U.3
Kappos, L.4
Fuhr, P.5
Plasilov, M.6
Hüller, H.7
Heinimann, K.8
-
24
-
-
0344099622
-
Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease
-
Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenet. Genome Res. 100 (2003) 252-260
-
(2003)
Cytogenet. Genome Res.
, vol.100
, pp. 252-260
-
-
Brais, B.1
-
25
-
-
0030775367
-
Recent studies on oculopharyngeal muscular dystrophy in Quebec
-
Bouchard J.P., Brais B., Brunet D., Gould P.V., and Rouleau G.A. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromuscul. Disord. 7 Suppl 1 (1997) S22-S29
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Bouchard, J.P.1
Brais, B.2
Brunet, D.3
Gould, P.V.4
Rouleau, G.A.5
-
26
-
-
0020057967
-
Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian Kindred
-
Little B.W., and Perl D.P. Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian Kindred. J. Neurol. Sci. 53 (1982) 145-158
-
(1982)
J. Neurol. Sci.
, vol.53
, pp. 145-158
-
-
Little, B.W.1
Perl, D.P.2
-
27
-
-
0344153483
-
Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint
-
van der Sluijs B.M., Hoefsloot L.H., Padberg G.W., van der Maarel S.M., and van Engelen B.G.M. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J. Neurol. 250 (2003) 1307-1312
-
(2003)
J. Neurol.
, vol.250
, pp. 1307-1312
-
-
van der Sluijs, B.M.1
Hoefsloot, L.H.2
Padberg, G.W.3
van der Maarel, S.M.4
van Engelen, B.G.M.5
-
28
-
-
0027549485
-
Oculopharyngeal muscular dystrophy
-
Codere F. Oculopharyngeal muscular dystrophy. Can. J. Ophthalmol. 28 (1993) 1-2
-
(1993)
Can. J. Ophthalmol.
, vol.28
, pp. 1-2
-
-
Codere, F.1
-
29
-
-
0030782405
-
Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia
-
Duranceau A. Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia. Neuromuscul. Disord. 7 (1997) S85-S89
-
(1997)
Neuromuscul. Disord.
, vol.7
-
-
Duranceau, A.1
-
30
-
-
0030728968
-
A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy
-
Mathieu J., Lapointe G., Brassard A., Tremblay C., Brais B., Rouleau G.A., and Bouchard J.P. A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscul. Disord. 7 (1997) S100-S104
-
(1997)
Neuromuscul. Disord.
, vol.7
-
-
Mathieu, J.1
Lapointe, G.2
Brassard, A.3
Tremblay, C.4
Brais, B.5
Rouleau, G.A.6
Bouchard, J.P.7
-
31
-
-
0030778843
-
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation
-
Stajich J.M., Gilchrist J.M., Lennon F., Lee A., Yamaoka L., Rosi B., Gaskell P.C., Pritchard M., Donals L., Roses A.D., Vance J.M., and Pericak-Vance M.A. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. Neuromuscul. Disord. 1 (1997) S75-S81
-
(1997)
Neuromuscul. Disord.
, vol.1
-
-
Stajich, J.M.1
Gilchrist, J.M.2
Lennon, F.3
Lee, A.4
Yamaoka, L.5
Rosi, B.6
Gaskell, P.C.7
Pritchard, M.8
Donals, L.9
Roses, A.D.10
Vance, J.M.11
Pericak-Vance, M.A.12
-
32
-
-
0030731710
-
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
-
Porschke H., Kress W., Reichmann H., Goebel H.H., and Grimm T. Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. Neuromuscul. Disord. 7 Suppl 1 (1997) S57-S62
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Porschke, H.1
Kress, W.2
Reichmann, H.3
Goebel, H.H.4
Grimm, T.5
-
33
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B., Bouchard J.P., Xie Y.G., Rochefort D.L., Chrétien N., Tomé F.M., Lafreniere R.G., Rommens J.M., Uyama E., Nohira O., Blumen S., Korczyn A.D., Heutink P., Mathieu J., Duranceau A., Codere F., Fardeau M., and Rouleau G.A. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 18 (1998) 164-167
-
(1998)
Nat. Genet.
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.P.2
Xie, Y.G.3
Rochefort, D.L.4
Chrétien, N.5
Tomé, F.M.6
Lafreniere, R.G.7
Rommens, J.M.8
Uyama, E.9
Nohira, O.10
Blumen, S.11
Korczyn, A.D.12
Heutink, P.13
Mathieu, J.14
Duranceau, A.15
Codere, F.16
Fardeau, M.17
Rouleau, G.A.18
-
34
-
-
0033009388
-
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
-
Blumen S.C., Brais B., Korczyn A.D., Medinsky S., Chapman J., Asherov A., et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann. Neurol. 46 (1999) 115-118
-
(1999)
Ann. Neurol.
, vol.46
, pp. 115-118
-
-
Blumen, S.C.1
Brais, B.2
Korczyn, A.D.3
Medinsky, S.4
Chapman, J.5
Asherov, A.6
-
35
-
-
0019956701
-
Evidence for a chronic axonal atrophy in oculopharyngeal 'muscular dystrophy'
-
Pobst A., Tackmann W., Stoeckli H.R., Jerusalem F., and Ulrich J. Evidence for a chronic axonal atrophy in oculopharyngeal 'muscular dystrophy'. Acta Neuropathol. (Berl.) 57 (1982) 209-216
-
(1982)
Acta Neuropathol. (Berl.)
, vol.57
, pp. 209-216
-
-
Pobst, A.1
Tackmann, W.2
Stoeckli, H.R.3
Jerusalem, F.4
Ulrich, J.5
-
36
-
-
0035068493
-
Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy
-
Schober R., Kress W., Grahmann F., Kellermann S., Baum P., Gunzel S., and Wagner A. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 21 (2001) 45-52
-
(2001)
Neuropathology
, vol.21
, pp. 45-52
-
-
Schober, R.1
Kress, W.2
Grahmann, F.3
Kellermann, S.4
Baum, P.5
Gunzel, S.6
Wagner, A.7
-
37
-
-
0030775367
-
Recent studies on oculopharyngeal muscular dystrophy in Québec
-
Bouchard P., Brais B., Brunet D., Gould P.V., and Rouleau G.A. Recent studies on oculopharyngeal muscular dystrophy in Québec. Neuromuscul. Disord. 7 Suppl. 1 (1997) S22-S29
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.SUPPL. 1
-
-
Bouchard, P.1
Brais, B.2
Brunet, D.3
Gould, P.V.4
Rouleau, G.A.5
-
38
-
-
0019448016
-
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with dustal spread and neurogenic involvement
-
Schmitt P., and Krause K.H. An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with dustal spread and neurogenic involvement. Muscle Nerve 4 (1981) 296-305
-
(1981)
Muscle Nerve
, vol.4
, pp. 296-305
-
-
Schmitt, P.1
Krause, K.H.2
-
39
-
-
0027301012
-
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature
-
Hardiman O., Halperin J.J., Farell M.A., Shapiro B.E., Wray S.H., and Brown R.H. Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. Arch. Neurol. 50 (1993) 481-488
-
(1993)
Arch. Neurol.
, vol.50
, pp. 481-488
-
-
Hardiman, O.1
Halperin, J.J.2
Farell, M.A.3
Shapiro, B.E.4
Wray, S.H.5
Brown, R.H.6
-
40
-
-
0034620564
-
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy
-
Mirabella M., Silvestri G., de Rosa G., Di Giovanni S., Di Muzio A., Uncini A., Tonali P., and Servidei S. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. Neurology 54 (2000) 608-614
-
(2000)
Neurology
, vol.54
, pp. 608-614
-
-
Mirabella, M.1
Silvestri, G.2
de Rosa, G.3
Di Giovanni, S.4
Di Muzio, A.5
Uncini, A.6
Tonali, P.7
Servidei, S.8
-
41
-
-
0035158048
-
GCG repeats and phenotype in oculopharyngeal muscular dystrophy
-
Müller T., Schröder R., and Zierz S. GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 24 (2001) 120-122
-
(2001)
Muscle Nerve
, vol.24
, pp. 120-122
-
-
Müller, T.1
Schröder, R.2
Zierz, S.3
-
42
-
-
0035068493
-
Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy
-
Schober R., Kress W., Grahmann F., Kellermann S., Baum P., Günzel S., and Wagner A. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 21 (2001) 45-52
-
(2001)
Neuropathology
, vol.21
, pp. 45-52
-
-
Schober, R.1
Kress, W.2
Grahmann, F.3
Kellermann, S.4
Baum, P.5
Günzel, S.6
Wagner, A.7
-
43
-
-
0036135243
-
Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
-
Boukriche Y., Maisonobe T., and Masson C. Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle Nerve 25 (2002) 98-101
-
(2002)
Muscle Nerve
, vol.25
, pp. 98-101
-
-
Boukriche, Y.1
Maisonobe, T.2
Masson, C.3
-
44
-
-
0026163660
-
Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system
-
Linoli G., Tomelleri G., and Ghezzi M. Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system. Pathologica 83 (1991) 325-334
-
(1991)
Pathologica
, vol.83
, pp. 325-334
-
-
Linoli, G.1
Tomelleri, G.2
Ghezzi, M.3
-
45
-
-
0036135243
-
Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
-
Boukriche Y., Maisonobe T., and Masson C. Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle Nerve 25 (2002) 98-101
-
(2002)
Muscle Nerve
, vol.25
, pp. 98-101
-
-
Boukriche, Y.1
Maisonobe, T.2
Masson, C.3
-
46
-
-
0347362731
-
Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion
-
Nakashima D., Nakajima H., Ishida S., Sugino M., Kimura F., and Hanafusa T. Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion. Rinsho Shinkeigaku 43 (2003) 560-563
-
(2003)
Rinsho Shinkeigaku
, vol.43
, pp. 560-563
-
-
Nakashima, D.1
Nakajima, H.2
Ishida, S.3
Sugino, M.4
Kimura, F.5
Hanafusa, T.6
-
47
-
-
20044372521
-
Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice
-
Dion P., Shanmugam V., Gaspar C., Messaed C., Meijer I., Toulouse A., Laganiere A.J., Roussel J., Rochefort D., Laganiere S., Allen A., Karpati G., Bouchard J.P., Brais B., and Rouleau G.A. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiol Dis. 3 (2005) 528-536
-
(2005)
Neurobiol Dis.
, vol.3
, pp. 528-536
-
-
Dion, P.1
Shanmugam, V.2
Gaspar, C.3
Messaed, C.4
Meijer, I.5
Toulouse, A.6
Laganiere, A.J.7
Roussel, J.8
Rochefort, D.9
Laganiere, S.10
Allen, A.11
Karpati, G.12
Bouchard, J.P.13
Brais, B.14
Rouleau, G.A.15
-
49
-
-
0028015909
-
Immunodetection of poly(A) binding protein II in the cell nucleus
-
Krause S., Fakan S., Weis K., and Wahle E. Immunodetection of poly(A) binding protein II in the cell nucleus. Exp. Cell Res. 214 (1994) 75-82
-
(1994)
Exp. Cell Res.
, vol.214
, pp. 75-82
-
-
Krause, S.1
Fakan, S.2
Weis, K.3
Wahle, E.4
-
50
-
-
0027400410
-
Mammalian poly(A)-binding protein II. Physical properties and binding to polynucleotides
-
Wahle E., Lustig A., Jeno P., and Maurer P. Mammalian poly(A)-binding protein II. Physical properties and binding to polynucleotides. J. Biol. Chem. 268 (1993) 2937-2945
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 2937-2945
-
-
Wahle, E.1
Lustig, A.2
Jeno, P.3
Maurer, P.4
-
51
-
-
0028883487
-
Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II
-
Nemeth A., Krause S., Blank D., Jenny A., Jeno P., Lusting A., and Wahle E. Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II. Nucleic Acids Res. 23 (1995) 4034-4041
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4034-4041
-
-
Nemeth, A.1
Krause, S.2
Blank, D.3
Jenny, A.4
Jeno, P.5
Lusting, A.6
Wahle, E.7
-
52
-
-
0041312652
-
Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA
-
Kerwitz Y., Kühn U., Lilie H., Knoth A., Scheuermann T., Friedrich H., Schwarz E., and Wahle E. Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA. EMBO J. 22 (2003) 3705-3714
-
(2003)
EMBO J.
, vol.22
, pp. 3705-3714
-
-
Kerwitz, Y.1
Kühn, U.2
Lilie, H.3
Knoth, A.4
Scheuermann, T.5
Friedrich, H.6
Schwarz, E.7
Wahle, E.8
-
53
-
-
0033951076
-
Deciphering the cellular pathway for transport of poly(A)-binding protein II
-
Calado U., Kutay U., Kühn E., Wahle E., and Carmo-Fonseca M. Deciphering the cellular pathway for transport of poly(A)-binding protein II. RNA 6 (2000) 245-256
-
(2000)
RNA
, vol.6
, pp. 245-256
-
-
Calado, U.1
Kutay, U.2
Kühn, E.3
Wahle, E.4
Carmo-Fonseca, M.5
-
54
-
-
0035504113
-
Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death
-
Fan X., Dion P., Laganiere J., Brais B., and Rouleau G.A. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum. Mol. Genet. 10 (2001) 2341-2351
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2341-2351
-
-
Fan, X.1
Dion, P.2
Laganiere, J.3
Brais, B.4
Rouleau, G.A.5
-
55
-
-
0025817865
-
A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation
-
Wahle E. A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation. Cell 66 (1991) 759-768
-
(1991)
Cell
, vol.66
, pp. 759-768
-
-
Wahle, E.1
-
56
-
-
0028895435
-
Poly(A) tail length control is caused by termination of processive synthesis
-
Wahle E. Poly(A) tail length control is caused by termination of processive synthesis. J. Biol. Chem. 270 (1995) 2800-2808
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 2800-2808
-
-
Wahle, E.1
-
57
-
-
0028340737
-
The mRNA poly(A)-binding protein: localization, abundance, and RNA-binding specificity
-
Gorlach M., Burd C.G., and Dreyfuss G. The mRNA poly(A)-binding protein: localization, abundance, and RNA-binding specificity. Exp. Cell Res. 211 (1994) 400-407
-
(1994)
Exp. Cell Res.
, vol.211
, pp. 400-407
-
-
Gorlach, M.1
Burd, C.G.2
Dreyfuss, G.3
-
58
-
-
0032557655
-
The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm
-
Afonina E., Stauber R., and Pavlakis G.N. The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm. J. Biol. Chem. 273 (1998) 13015-13021
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 13015-13021
-
-
Afonina, E.1
Stauber, R.2
Pavlakis, G.N.3
-
59
-
-
0034703413
-
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly (A) binding protein 2 aggregates which sequester poly(A) RNA
-
Calado A., Tome F.M.S., Brais B., Rouleau GA., Kuhn U., Wahle E., and Carmo-Fonseca M. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly (A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet. 9 (2000) 2321-2328
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2321-2328
-
-
Calado, A.1
Tome, F.M.S.2
Brais, B.3
Rouleau, GA.4
Kuhn, U.5
Wahle, E.6
Carmo-Fonseca, M.7
-
60
-
-
0030784958
-
Mechanism and regulation of mRNA polyadenylation
-
Colgan D.F., and Manley J.L. Mechanism and regulation of mRNA polyadenylation. Genes Dev. 11 (1997) 2755-2766
-
(1997)
Genes Dev.
, vol.11
, pp. 2755-2766
-
-
Colgan, D.F.1
Manley, J.L.2
-
61
-
-
0033151767
-
mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription
-
Minvielle-Sebastia L., and Keller W. mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription. Curr. Opin. Cell Biol. 11 (1999) 352-357
-
(1999)
Curr. Opin. Cell Biol.
, vol.11
, pp. 352-357
-
-
Minvielle-Sebastia, L.1
Keller, W.2
-
62
-
-
0033215058
-
Last but not least: regulated poly(A) tail formation
-
Barabino S.M.L., and Keller W. Last but not least: regulated poly(A) tail formation. Cell 99 (1999) 9-11
-
(1999)
Cell
, vol.99
, pp. 9-11
-
-
Barabino, S.M.L.1
Keller, W.2
-
63
-
-
0027439688
-
Assembly of a processive messenger RNA polyadenylation complex
-
Bienroth S., Keller W., and Wahle E. Assembly of a processive messenger RNA polyadenylation complex. EMBO J. 12 (1993) 585-594
-
(1993)
EMBO J.
, vol.12
, pp. 585-594
-
-
Bienroth, S.1
Keller, W.2
Wahle, E.3
-
64
-
-
0034737319
-
The nuclear poly(A) binding protein, PABP2, forms an oligomeric particle covering the length of the poly(A) tail
-
Keller R.W., Kuhn U., Aragon M., Bornikova L., Wahle E., and Bear D.G. The nuclear poly(A) binding protein, PABP2, forms an oligomeric particle covering the length of the poly(A) tail. J. Mol. Biol. 297 (2000) 569-583
-
(2000)
J. Mol. Biol.
, vol.297
, pp. 569-583
-
-
Keller, R.W.1
Kuhn, U.2
Aragon, M.3
Bornikova, L.4
Wahle, E.5
Bear, D.G.6
-
66
-
-
0022552155
-
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities
-
Pratt F., and Meyers P.K. Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. Laryngoscope 96 (1986) 368-373
-
(1986)
Laryngoscope
, vol.96
, pp. 368-373
-
-
Pratt, F.1
Meyers, P.K.2
-
67
-
-
0024370464
-
Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy
-
Tome F.M., Askanas V., Engel W.K., Alvarez R.B., and Lee C.S. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 39 (1989) 929-932
-
(1989)
Neurology
, vol.39
, pp. 929-932
-
-
Tome, F.M.1
Askanas, V.2
Engel, W.K.3
Alvarez, R.B.4
Lee, C.S.5
-
68
-
-
0024464204
-
Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec
-
Bouchard J.P., Gagne F., Tome F.M., and Brunet D. Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. Can. J. Neurol. Sci. 16 (1989) 446-450
-
(1989)
Can. J. Neurol. Sci.
, vol.16
, pp. 446-450
-
-
Bouchard, J.P.1
Gagne, F.2
Tome, F.M.3
Brunet, D.4
-
69
-
-
0025132036
-
Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases
-
Coquet M., Vital C., and Julien J. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases. Neuropathol. Appl. Neurobiol. 5 (1990) 393-400
-
(1990)
Neuropathol. Appl. Neurobiol.
, vol.5
, pp. 393-400
-
-
Coquet, M.1
Vital, C.2
Julien, J.3
-
70
-
-
0029989058
-
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews
-
Blumen S.C., Sadeh M., Korczyn A.D., Rouche A., Nisipeanu P., Asherov A., and Tome F.M. Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology 46 (1996) 1324-1328
-
(1996)
Neurology
, vol.46
, 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.7
-
72
-
-
0037023781
-
Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy
-
Bao Y.P., Cook L.J., O'Donovan D., Uyama E., and Rubinsztein D.C. Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy. J. Biol. Chem. 277 (2002) 12263-12269
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 12263-12269
-
-
Bao, Y.P.1
Cook, L.J.2
O'Donovan, D.3
Uyama, E.4
Rubinsztein, D.C.5
-
73
-
-
0142185364
-
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy
-
Abu-Baker A., Messaed C., Laganiere J., Gaspar C., Brais B., and Rouleau G.A. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 12 (2003) 2609-2623
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2609-2623
-
-
Abu-Baker, A.1
Messaed, C.2
Laganiere, J.3
Gaspar, C.4
Brais, B.5
Rouleau, G.A.6
-
74
-
-
0033768247
-
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy
-
Shanmugam V., Dion P., Rochefort D., Laganiere J., Brais B., and Rouleau G.A. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann. Neurol. 48 (2000) 798-802
-
(2000)
Ann. Neurol.
, vol.48
, pp. 798-802
-
-
Shanmugam, V.1
Dion, P.2
Rochefort, D.3
Laganiere, J.4
Brais, B.5
Rouleau, G.A.6
-
75
-
-
23844440597
-
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy
-
Abu-Baker A., Laganiere S., Fan X., Laganiere J., Brais B., and Rouleau G.A. Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. Traffic 6 (2005) 1-14
-
(2005)
Traffic
, vol.6
, pp. 1-14
-
-
Abu-Baker, A.1
Laganiere, S.2
Fan, X.3
Laganiere, J.4
Brais, B.5
Rouleau, G.A.6
-
76
-
-
20044363444
-
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions
-
Corbeil-Girard L.P., Klein A.F., Sasseville A.M., Lavoie H., Dicaire M.J., Saint-Denis A., Page M., Duranceau A., Codere F., Bouchard J.P., Karpati G., Rouleau G.A., Massie B., Langelier Y., and Brais B. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiol. Dis. 18 (2005) 551-567
-
(2005)
Neurobiol. Dis.
, vol.18
, pp. 551-567
-
-
Corbeil-Girard, L.P.1
Klein, A.F.2
Sasseville, A.M.3
Lavoie, H.4
Dicaire, M.J.5
Saint-Denis, A.6
Page, M.7
Duranceau, A.8
Codere, F.9
Bouchard, J.P.10
Karpati, G.11
Rouleau, G.A.12
Massie, B.13
Langelier, Y.14
Brais, B.15
-
77
-
-
7244236320
-
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
-
Arrasate M., Mitra S., Schweitzer E.S., Segal M.R., and Finkbeiner S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 43 (2004) 805-810
-
(2004)
Nature
, vol.43
, pp. 805-810
-
-
Arrasate, M.1
Mitra, S.2
Schweitzer, E.S.3
Segal, M.R.4
Finkbeiner, S.5
-
78
-
-
17844369724
-
In vivo aggregation properties of the nuclear poly(A)-binding protein PABPN1
-
Tavanez J.P., Calado P., Braga J., Lafarga M., and Carmo-Fonseca M. In vivo aggregation properties of the nuclear poly(A)-binding protein PABPN1. RNA 5 (2005) 752-762
-
(2005)
RNA
, vol.5
, pp. 752-762
-
-
Tavanez, J.P.1
Calado, P.2
Braga, J.3
Lafarga, M.4
Carmo-Fonseca, M.5
-
79
-
-
1942485876
-
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus
-
Berciano T.M., Nuria T., Jose V., Navascues L.O.J., Gomes A., and Lafarga M. Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. Hum. Mol. Genet. 13 (2004) 829-838
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 829-838
-
-
Berciano, T.M.1
Nuria, T.2
Jose, V.3
Navascues, L.O.J.4
Gomes, A.5
Lafarga, M.6
-
80
-
-
33747200152
-
The dynamism of PABPN1 nuclear inclusions during the cell cycle
-
Sasseville A.M.J., Caron A.W., Bourget L., Klein A.F., Dicaire M.J., Rouleau G.A., Massie B., Langelier Y., and Brais B. The dynamism of PABPN1 nuclear inclusions during the cell cycle. Neurobiol. Dis. 23 (2006) 621-629
-
(2006)
Neurobiol. Dis.
, vol.23
, pp. 621-629
-
-
Sasseville, A.M.J.1
Caron, A.W.2
Bourget, L.3
Klein, A.F.4
Dicaire, M.J.5
Rouleau, G.A.6
Massie, B.7
Langelier, Y.8
Brais, B.9
-
82
-
-
0034094873
-
Glutamine repeats and neurodegeneration
-
Zoghbi H.Y., and Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23 (2000) 217-247
-
(2000)
Annu. Rev. Neurosci.
, vol.23
, pp. 217-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
83
-
-
0034641593
-
CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
-
Gaspar C., Jannatipour M., Dion P., Laganiere J., Sequeiros J., Brais B., and Rouleau G.A. CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Hum. Mol. Genet. 9 (2000) 1957-1966
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1957-1966
-
-
Gaspar, C.1
Jannatipour, M.2
Dion, P.3
Laganiere, J.4
Sequeiros, J.5
Brais, B.6
Rouleau, G.A.7
-
84
-
-
24944449624
-
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts
-
Toulouse A., Au-Yeung F., Gaspar C., Roussel J., Dion P., and Rouleau G.A. Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. Hum. Mol. Genet. 15 (2005) 2649-2660
-
(2005)
Hum. Mol. Genet.
, vol.15
, pp. 2649-2660
-
-
Toulouse, A.1
Au-Yeung, F.2
Gaspar, C.3
Roussel, J.4
Dion, P.5
Rouleau, G.A.6
-
85
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki Y., Mundlos S., Upton J., and Olsen B.R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272 (1996) 548-551
-
(1996)
Science
, vol.272
, pp. 548-551
-
-
Muragaki, Y.1
Mundlos, S.2
Upton, J.3
Olsen, B.R.4
-
86
-
-
12644284524
-
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
-
Goodman F.R., Mundlos S., Muragaki Y., Donnai D., Giovannucci-Uzielli M.L., Lapi E., Majewski F., McGaughran J., McKeown C., Reardon W., Upton J., Winter R.M., Olsen B.R., and Scambler P.J. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc. Natl. Acad. Sci. 94 (1997) 7458-7463
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 7458-7463
-
-
Goodman, F.R.1
Mundlos, S.2
Muragaki, Y.3
Donnai, D.4
Giovannucci-Uzielli, M.L.5
Lapi, E.6
Majewski, F.7
McGaughran, J.8
McKeown, C.9
Reardon, W.10
Upton, J.11
Winter, R.M.12
Olsen, B.R.13
Scambler, P.J.14
-
87
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S., Otto F., Mundlos C., Mulliken J.B., Aylsworth A.S., Albright S., Lindhout D., Cole W.G., Henn W., Knoll J.H., Owen M.J., Mertelsmann R., Zabel B.U., and Olsen B.R. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89 (1997) 773-779
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
88
-
-
0031694448
-
Holoprosencephaly due to mutation in ZIC2 a homologue of Drosophila odd-paired
-
Brown S.A., Warburton D., Brown L.Y., Yu C.-Y., Roeder E.R., Stengel-Rutkowski S., Hennekam R.C.M., and Muenke M. Holoprosencephaly due to mutation in ZIC2 a homologue of Drosophila odd-paired. Nat. Genet. 20 (1998) 180-183
-
(1998)
Nat. Genet.
, vol.20
, pp. 180-183
-
-
Brown, S.A.1
Warburton, D.2
Brown, L.Y.3
Yu, C.-Y.4
Roeder, E.R.5
Stengel-Rutkowski, S.6
Hennekam, R.C.M.7
Muenke, M.8
-
89
-
-
0031050961
-
Mutation of HOXA13 in hand-foot-genital syndrome
-
Mortlock D.P., and Innis J.W. Mutation of HOXA13 in hand-foot-genital syndrome. Nat. Genet. 15 (1997) 179-180
-
(1997)
Nat. Genet.
, vol.15
, pp. 179-180
-
-
Mortlock, D.P.1
Innis, J.W.2
-
90
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P., Bisceglia L., Zelante L., Nagaraja R., Porcu S., Ristaldi S.M.S., R.Marzella M., Rocchi M., Nicolino A., Lienhardt-Roussie A., Nivelon A., Verloes D., Schlessinger P., Gasparini D., Bonneau A., and Cao G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 27 (2001) 159-166
-
(2001)
Nat Genet.
, vol.27
, pp. 159-166
-
-
Crisponi, L.1
Deiana, M.2
Loi, A.3
Chiappe, F.4
Uda, M.5
Amati, P.6
Bisceglia, L.7
Zelante, L.8
Nagaraja, R.9
Porcu, S.10
Ristaldi, S.M.S.11
R.Marzella, M.12
Rocchi, M.13
Nicolino, A.14
Lienhardt-Roussie, A.15
Nivelon, A.16
Verloes, D.17
Schlessinger, P.18
Gasparini, D.19
Bonneau, A.20
Cao, G.21
more..
-
91
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
Stromme P., Mangelsdorf M.E., Shaw M.A., Lower K.M., Lewis S.M., Bruyere H., Lutcherath V., Gedeon A.K., Wallace R.H., Scheffer I.E., Turner G., Partington M., Frints S.G., Fryns J.P., Sutherland G.R., Mulley J.C., and Gecz J. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30 (2002) 441-445
-
(2002)
Nat. Genet.
, vol.30
, pp. 441-445
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Shaw, M.A.3
Lower, K.M.4
Lewis, S.M.5
Bruyere, H.6
Lutcherath, V.7
Gedeon, A.K.8
Wallace, R.H.9
Scheffer, I.E.10
Turner, G.11
Partington, M.12
Frints, S.G.13
Fryns, J.P.14
Sutherland, G.R.15
Mulley, J.C.16
Gecz, J.17
-
92
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
Laumonnier F., Ronce N., Hamel B.C., Thomas P., Lespinasse J., Raynaud M., Paringaux C., Van Bokhoven H., Kalscheuer V., Fryns J.P., Chelly J., Moraine C., and Briault S. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am. J. Hum. Genet. 71 (2002) 1450-1455
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.3
Thomas, P.4
Lespinasse, J.5
Raynaud, M.6
Paringaux, C.7
Van Bokhoven, H.8
Kalscheuer, V.9
Fryns, J.P.10
Chelly, J.11
Moraine, C.12
Briault, S.13
-
93
-
-
0037379890
-
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
-
Amiel J., Laudier B., Attie-Bitach T., Trang H., De Pontual L., Gener B., Trochet D., Etchevers H., Ray P., Simonneau M., Vekemans M.M., Munnich A., Gaultier G., and Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet. 33 (2003) 459-461
-
(2003)
Nat. Genet.
, vol.33
, pp. 459-461
-
-
Amiel, J.1
Laudier, B.2
Attie-Bitach, T.3
Trang, H.4
De Pontual, L.5
Gener, B.6
Trochet, D.7
Etchevers, H.8
Ray, P.9
Simonneau, M.10
Vekemans, M.M.11
Munnich, A.12
Gaultier, G.13
Lyonnet, S.14
-
94
-
-
0031015410
-
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
-
Warren S.T. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 275 (1997) 408-409
-
(1997)
Science
, vol.275
, pp. 408-409
-
-
Warren, S.T.1
-
95
-
-
10744223971
-
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
-
Lavoie H., Debeane F., Trinh Q.D., Turcotte J.F., Corbeil-Girard L.P., Dicaire M.J., Saint-Denis A., Page M., Rouleau G.A., and Brais B. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum. Mol. Genet. 12 (2003) 2967-2979
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2967-2979
-
-
Lavoie, H.1
Debeane, F.2
Trinh, Q.D.3
Turcotte, J.F.4
Corbeil-Girard, L.P.5
Dicaire, M.J.6
Saint-Denis, A.7
Page, M.8
Rouleau, G.A.9
Brais, B.10
-
96
-
-
10844222804
-
A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
-
Caburet S., Demarez A., Moumme L., Fellows M., De Baere E., and Veitia R.A. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J. Med. Genet. 41 (2004) 931-946
-
(2004)
J. Med. Genet.
, vol.41
, pp. 931-946
-
-
Caburet, S.1
Demarez, A.2
Moumme, L.3
Fellows, M.4
De Baere, E.5
Veitia, R.A.6
-
97
-
-
8444221584
-
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
-
Nasrallah I.M., Minarcik J.C., and Golden J.A. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J. Cell Biol. 167 (2004) 411-416
-
(2004)
J. Cell Biol.
, vol.167
, pp. 411-416
-
-
Nasrallah, I.M.1
Minarcik, J.C.2
Golden, J.A.3
-
98
-
-
19544394236
-
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
-
Albrecht A.N., Kornak U., Boddrich A., Suring K., Robinson P.N., Stiege A.C., Lurz R., Stricker S., Wanker E.E., and Mundlos S. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum. Mol. Genet. 13 (2004) 2351-2359
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2351-2359
-
-
Albrecht, A.N.1
Kornak, U.2
Boddrich, A.3
Suring, K.4
Robinson, P.N.5
Stiege, A.C.6
Lurz, R.7
Stricker, S.8
Wanker, E.E.9
Mundlos, S.10
-
99
-
-
0037108033
-
Limb malformations and the human HOX genes
-
Goodman F.R. Limb malformations and the human HOX genes. Am. J. Med. Genet. 112 (2002) 256-265
-
(2002)
Am. J. Med. Genet.
, vol.112
, pp. 256-265
-
-
Goodman, F.R.1
-
101
-
-
5444272310
-
Polyalanine expansions in human
-
Amiel J., Trochet D., Clement-Ziza M., Munnich A., and Lyonnet S. Polyalanine expansions in human. Hum. Mol. Genet. 13 (2004) R235-R243
-
(2004)
Hum. Mol. Genet.
, vol.13
-
-
Amiel, J.1
Trochet, D.2
Clement-Ziza, M.3
Munnich, A.4
Lyonnet, S.5
-
102
-
-
19444364594
-
The other trinucleotide repeat: polyalanine expansion disorders
-
Albrecht A., and Mundlos S. The other trinucleotide repeat: polyalanine expansion disorders. Curr. Opin. Genet. Dev. 3 (2005) 285-293
-
(2005)
Curr. Opin. Genet. Dev.
, vol.3
, pp. 285-293
-
-
Albrecht, A.1
Mundlos, S.2
-
103
-
-
20944432778
-
Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice
-
Davies J.E., Wang L., Garcia-Oroz L., Cook L.J., Vacher C., O'donovan D.G., and Rubinsztein D.C. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat. Med. 6 (2005) 672-677
-
(2005)
Nat. Med.
, vol.6
, pp. 672-677
-
-
Davies, J.E.1
Wang, L.2
Garcia-Oroz, L.3
Cook, L.J.4
Vacher, C.5
O'donovan, D.G.6
Rubinsztein, D.C.7
-
104
-
-
1642555777
-
Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy
-
Hino H., Araki K., Uyama E., Takeya M., Araki M., Yoshinobu K., Miike K., Kawazoe Y., Maeda Y., Uchino M., and Yamamura K. Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 13 (2004) 181-190
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 181-190
-
-
Hino, H.1
Araki, K.2
Uyama, E.3
Takeya, M.4
Araki, M.5
Yoshinobu, K.6
Miike, K.7
Kawazoe, Y.8
Maeda, Y.9
Uchino, M.10
Yamamura, K.11
-
105
-
-
33646768641
-
A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1
-
Chartier A., Benoit B., and Simonelig M. A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. EMBO J. 25 (2006) 2253-2262
-
(2006)
EMBO J.
, vol.25
, pp. 2253-2262
-
-
Chartier, A.1
Benoit, B.2
Simonelig, M.3
-
106
-
-
0041862481
-
HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy
-
Fan X., Messaed C., Dion P., Laganiere L., Brais B., Karpati G., and Rouleau G.A. HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. Can. J. Neurol. Sci. 30 (2003) 244-251
-
(2003)
Can. J. Neurol. Sci.
, vol.30
, pp. 244-251
-
-
Fan, X.1
Messaed, C.2
Dion, P.3
Laganiere, L.4
Brais, B.5
Karpati, G.6
Rouleau, G.A.7
-
108
-
-
0030853453
-
Polyalanine-based peptides as models for self-associated beta-pleated-sheet complexes
-
Blondelle S.E., Forood B., Houghten R.A., and Perez-Paya E. Polyalanine-based peptides as models for self-associated beta-pleated-sheet complexes. Biochemistry 36 (1997) 8393-8400
-
(1997)
Biochemistry
, vol.36
, pp. 8393-8400
-
-
Blondelle, S.E.1
Forood, B.2
Houghten, R.A.3
Perez-Paya, E.4
-
109
-
-
0035970888
-
Extreme diversity, conservation, and convergence of spider silk fibroin sequences
-
Gatesy J., Hayashi C., Motriuk D., Woods J., and Lewis R. Extreme diversity, conservation, and convergence of spider silk fibroin sequences. Science 291 (2001) 2603-2605
-
(2001)
Science
, vol.291
, pp. 2603-2605
-
-
Gatesy, J.1
Hayashi, C.2
Motriuk, D.3
Woods, J.4
Lewis, R.5
-
110
-
-
0037168551
-
Associations between human disease genes and overlapping gene groups and multiple amino acid runs
-
Karlin S., Chen C., Gentles A.J., and Cleary M. Associations between human disease genes and overlapping gene groups and multiple amino acid runs. Proc. Natl Acad. Sci. 99 (2002) 17008-17013
-
(2002)
Proc. Natl Acad. Sci.
, vol.99
, pp. 17008-17013
-
-
Karlin, S.1
Chen, C.2
Gentles, A.J.3
Cleary, M.4
-
111
-
-
0037117499
-
Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques
-
Perutz M.F., Pope B.J., Owen D., Wanker E.E., and Scherzinger E. Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques. Proc. Natl. Acad. Sci. 99 (2002) 5596-5600
-
(2002)
Proc. Natl. Acad. Sci.
, vol.99
, pp. 5596-5600
-
-
Perutz, M.F.1
Pope, B.J.2
Owen, D.3
Wanker, E.E.4
Scherzinger, E.5
-
112
-
-
0344845146
-
Trinucleotide expansions leading to an extended poly-l-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation
-
Scheuermann T., Schulz B., Blume A., Wahle E., Rudolph R., and Schwarz E. Trinucleotide expansions leading to an extended poly-l-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation. Protein Sci. 12 (2003) 2685-2692
-
(2003)
Protein Sci.
, vol.12
, pp. 2685-2692
-
-
Scheuermann, T.1
Schulz, B.2
Blume, A.3
Wahle, E.4
Rudolph, R.5
Schwarz, E.6
-
113
-
-
27544493682
-
Poly-(l-alanine) expansions form core beta-sheets that nucleate amyloid assembly
-
Shinchuk L.M., Sharma D., Blondelle S.E., Reixach N., Inouye H., and Kirschner D.A. Poly-(l-alanine) expansions form core beta-sheets that nucleate amyloid assembly. Proteins 61 (2005) 579-589
-
(2005)
Proteins
, vol.61
, pp. 579-589
-
-
Shinchuk, L.M.1
Sharma, D.2
Blondelle, S.E.3
Reixach, N.4
Inouye, H.5
Kirschner, D.A.6
-
114
-
-
33244456166
-
Spontaneous fibril formation by polyalanines; discontinuous molecular dynamics simulations
-
Nguyen H.D., and Hall C.K. Spontaneous fibril formation by polyalanines; discontinuous molecular dynamics simulations. J. Am. Chem. Soc. 128 (2006) 1890-1901
-
(2006)
J. Am. Chem. Soc.
, vol.128
, pp. 1890-1901
-
-
Nguyen, H.D.1
Hall, C.K.2
-
115
-
-
15744382287
-
Kinetics of fibril formation by polyalanine peptides
-
Nguyen H.D., and Hall C.K. Kinetics of fibril formation by polyalanine peptides. J. Biol. Chem. 280 (2005) 9074-9082
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 9074-9082
-
-
Nguyen, H.D.1
Hall, C.K.2
-
116
-
-
1642451714
-
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy
-
Bao Y.P., Sarkar S., Uyama E., and Rubinsztein D.C. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. J. Med. Genet. 41 (2004) 47-51
-
(2004)
J. Med. Genet.
, vol.41
, pp. 47-51
-
-
Bao, Y.P.1
Sarkar, S.2
Uyama, E.3
Rubinsztein, D.C.4
-
117
-
-
0037461730
-
Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
-
Sanchez I., Mahlke C., and Yuan J. Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 421 (2003) 373-379
-
(2003)
Nature
, vol.421
, pp. 373-379
-
-
Sanchez, I.1
Mahlke, C.2
Yuan, J.3
-
118
-
-
1642300389
-
Continuous remodeling of adult extraocular muscles as an explanation for selective craniofacial vulnerability in oculopharyngeal muscular dystrophy
-
Wirtschafter J.D., Ferrington D.A., and McLoon L.K. Continuous remodeling of adult extraocular muscles as an explanation for selective craniofacial vulnerability in oculopharyngeal muscular dystrophy. J. Neuroophthalmol. 1 (2004) 62-67
-
(2004)
J. Neuroophthalmol.
, vol.1
, pp. 62-67
-
-
Wirtschafter, J.D.1
Ferrington, D.A.2
McLoon, L.K.3
-
119
-
-
30144442961
-
Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis
-
Wang Q., and Bag J. Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis. Biochem. Biophys. Res. Commun. 340 (2006) 815-822
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, pp. 815-822
-
-
Wang, Q.1
Bag, J.2
-
120
-
-
0035873278
-
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
-
Kim Y.-J., Noguchi S., Hayashi Y.K., Tsukahara T., Shimizu T., and Arahata K. The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum. Mol. Genet. 10 (2001) 1129-1139
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1129-1139
-
-
Kim, Y.-J.1
Noguchi, S.2
Hayashi, Y.K.3
Tsukahara, T.4
Shimizu, T.5
Arahata, K.6
-
121
-
-
0037621980
-
Nuclear poly(A)-binding protein PABPN1 is associated with RNA polymerase II during transcription and accompanies the released transcript to the nuclear pore
-
Bear D.G., Fomproix N., Soop T., Björkroth B., Masich S., and Daneholt B. Nuclear poly(A)-binding protein PABPN1 is associated with RNA polymerase II during transcription and accompanies the released transcript to the nuclear pore. Exp. Cell Res. 286 (2003) 332-344
-
(2003)
Exp. Cell Res.
, vol.286
, pp. 332-344
-
-
Bear, D.G.1
Fomproix, N.2
Soop, T.3
Björkroth, B.4
Masich, S.5
Daneholt, B.6
-
122
-
-
0036566266
-
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
-
Ravikumar B., Duden R., and Rubinsztein D.C. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Mol. Genet. 11 (2002) 1107-1117
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1107-1117
-
-
Ravikumar, B.1
Duden, R.2
Rubinsztein, D.C.3
-
124
-
-
27544497472
-
Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway
-
(Hum Mol Genet)
-
Berger Z., Ttofi E.K., Michel C.H., Pasco M.Y., Tenant S., Rubinsztein D.C., and O'Kane C.J. Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway. Hum. Mol. Genet. 14 (2005) 3003-3011 (Hum Mol Genet)
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3003-3011
-
-
Berger, Z.1
Ttofi, E.K.2
Michel, C.H.3
Pasco, M.Y.4
Tenant, S.5
Rubinsztein, D.C.6
O'Kane, C.J.7
-
125
-
-
1642633757
-
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease
-
Tanaka M., Machida Y., Niu S., Ikeda T., Jana N.R., Doi H., Kurosawa M., Nekooki M., and Nukina N. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat. Med. 10 (2004) 148-154
-
(2004)
Nat. Med.
, vol.10
, pp. 148-154
-
-
Tanaka, M.1
Machida, Y.2
Niu, S.3
Ikeda, T.4
Jana, N.R.5
Doi, H.6
Kurosawa, M.7
Nekooki, M.8
Nukina, N.9
-
126
-
-
29644437591
-
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy
-
Davies J.E., Sarkar S., and Rubinsztein D.C. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 15 (2006) 23-31
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 23-31
-
-
Davies, J.E.1
Sarkar, S.2
Rubinsztein, D.C.3
-
127
-
-
29644434847
-
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody
-
Verheesen P., de Kluijver A., van Koningsbruggen S., de Brij M., de Harrd H.J., van Ommen G.J., and van der Maarel S.M. Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. Hum. Mol. Genet. 15 (2006) 105-111
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 105-111
-
-
Verheesen, P.1
de Kluijver, A.2
van Koningsbruggen, S.3
de Brij, M.4
de Harrd, H.J.5
van Ommen, G.J.6
van der Maarel, S.M.7
-
128
-
-
28744444484
-
Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells
-
Wang Q., Mosser D.D., and Bag J. Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells. Hum. Mol. Genet. 14 (2005) 3673-3684
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3673-3684
-
-
Wang, Q.1
Mosser, D.D.2
Bag, J.3
-
129
-
-
33344466851
-
Myoblast transfer therapy: is there any light at the end of the tunnel?
-
Mouly V., Aamiri A., Perie S., Mamchaoui K., Barani A., Bigot A., Bouazza B., Francois V., Furling D., Jacquemin V., Negroni E., Riederer I., Vignaud A., St Guily J.L., and Butler-Browne G.S. Myoblast transfer therapy: is there any light at the end of the tunnel?. Acta Myol. 2 (2005) 128-133
-
(2005)
Acta Myol.
, Issue.2
, pp. 128-133
-
-
Mouly, V.1
Aamiri, A.2
Perie, S.3
Mamchaoui, K.4
Barani, A.5
Bigot, A.6
Bouazza, B.7
Francois, V.8
Furling, D.9
Jacquemin, V.10
Negroni, E.11
Riederer, I.12
Vignaud, A.13
St Guily, J.L.14
Butler-Browne, G.S.15
|