-
1
-
-
0142027590
-
n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect
-
n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Gen 73:835-848
-
(2003)
Am J Hum Gen
, vol.73
, pp. 835-848
-
-
Bachinski, L.L.1
Udd, B.2
Meola, G.3
Sansone, V.4
Bassez, G.5
Eymard, B.6
Thornton, C.A.7
Moxley, R.T.8
Harper, P.S.9
Rogers, M.T.10
Jurkat-Rott, K.11
Lehmann-Horn, F.12
Wieser, T.13
Gamez, J.14
Navarro, C.15
Bottani, A.16
Kohler, A.17
Shriver, M.D.18
Sallinen, R.19
Wessman, M.20
Zhang, S.21
Wright, F.A.22
Krahe, R.23
more..
-
2
-
-
0035068024
-
Myopathie proximale avec myotonie (PROMM): Étude clinique et histologique
-
Paris
-
Bassez G, Attarian S, Laforet P, Azulay JP, Rouche A, Ferrer X, Urtizberea JA, Pellissier JF, Duboc D, Fardeau M, Pouget J, Eymard B (2001) Myopathie proximale avec myotonie (PROMM): étude clinique et histologique. Rev Neurol (Paris)2:209-218
-
(2001)
Rev Neurol
, vol.2
, pp. 209-218
-
-
Bassez, G.1
Attarian, S.2
Laforet, P.3
Azulay, J.P.4
Rouche, A.5
Ferrer, X.6
Urtizberea, J.A.7
Pellissier, J.F.8
Duboc, D.9
Fardeau, M.10
Pouget, J.11
Eymard, B.12
-
3
-
-
0037106539
-
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
-
Buj-Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL (2002) Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 11: 2297-2307
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2297-2307
-
-
Buj-Bello, A.1
Furling, D.2
Tronchère, H.3
Laporte, J.4
Lerouge, T.5
Butler-Browne, G.S.6
Mandel, J.L.7
-
4
-
-
0036019171
-
A patient with proximal myotonic myopathy and parkinsonism
-
Chu K, Cho J-W, Song E-C, Jeon BS (2002) A patient with proximal myotonic myopathy and parkinsonism. Can J Neurol Sci 29:188-190
-
(2002)
Can J Neurol Sci
, vol.29
, pp. 188-190
-
-
Chu, K.1
Cho, J.-W.2
Song, E.-C.3
Jeon, B.S.4
-
5
-
-
0030841672
-
Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
-
Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE (1997) Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci USA 94:7388-7393
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7388-7393
-
-
Davis, B.M.1
McCurrach, M.E.2
Taneja, K.L.3
Singer, R.H.4
Housman, D.E.5
-
6
-
-
0032995065
-
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
-
Day JW, Roelofs R, Leroy B, Pech I, Penzow K, Ranum LP (1999) Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 9:19-27
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 19-27
-
-
Day, J.W.1
Roelofs, R.2
Leroy, B.3
Pech, I.4
Penzow, K.5
Ranum, L.P.6
-
7
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF,l Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP (2003) Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60:657-664
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
Schneider, C.7
Koch, M.C.8
Beilman, G.J.9
Harrison, A.R.10
Dalton, J.C.11
Ranum, L.P.12
-
8
-
-
0346373752
-
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
-
Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP (2004) RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303:383-387
-
(2004)
Science
, vol.303
, pp. 383-387
-
-
Ebralidze, A.1
Wang, Y.2
Petkova, V.3
Ebralidse, K.4
Junghans, R.P.5
-
10
-
-
0035394801
-
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
-
Fardaei M, Larkin K, Brook D, Hamshere MG (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nuclei Acid Res 29:2766-2771
-
(2001)
Nuclei Acid Res
, vol.29
, pp. 2766-2771
-
-
Fardaei, M.1
Larkin, K.2
Brook, D.3
Hamshere, M.G.4
-
11
-
-
0043028446
-
Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM)
-
Flachenecker P, Schneider C, Cursiefen S, Ricker K, Toyka KV, Reiners K, (2003) Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM). Neuromuscul Disord 3:289-293
-
(2003)
Neuromuscul Disord
, vol.3
, pp. 289-293
-
-
Flachenecker, P.1
Schneider, C.2
Cursiefen, S.3
Ricker, K.4
Toyka, K.V.5
Reiners, K.6
-
13
-
-
0031037404
-
Proximal myotonic myopathy with MRI white matter abnormalities of the brain
-
Hund E, Jansen O, Koch MC, Ricker K, Fogel W, Niedermaier N, Otto M, Kuhn E Meinck HM (1997) Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 48:33-37
-
(1997)
Neurology
, vol.48
, pp. 33-37
-
-
Hund, E.1
Jansen, O.2
Koch, M.C.3
Ricker, K.4
Fogel, W.5
Niedermaier, N.6
Otto, M.7
Kuhn, E.8
Meinck, H.M.9
-
14
-
-
1542379846
-
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2
-
Jakubiczka S, Vielhaber S, Kress W, Kupferling P, Reuner U, Kunath B, Wieacker P (2004) Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics 5:55-59
-
(2004)
Neurogenetics
, vol.5
, pp. 55-59
-
-
Jakubiczka, S.1
Vielhaber, S.2
Kress, W.3
Kupferling, P.4
Reuner, U.5
Kunath, B.6
Wieacker, P.7
-
15
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003) A muscleblind knockout model for myotonic dystrophy. Science 302:1978-1980
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
16
-
-
0042698355
-
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: A controlled 3-dimensional magnetic resonance imaging study
-
Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG (2003) Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett 348:73-76
-
(2003)
Neurosci Lett
, vol.348
, pp. 73-76
-
-
Kassubek, J.1
Juengling, F.D.2
Hoffmann, S.3
Rosenbohm, A.4
Kurt, A.5
Jurkat-Rott, K.6
Steinbach, P.7
Wolf, M.8
Ludolph, A.C.9
Lehmann-Horn, F.10
Lerche, H.11
Weber, Y.G.12
-
17
-
-
0033954120
-
Proximal myotonic myopathy: Clinical, electrophysiological and pathological findings in a family
-
Kohler A, Burkhard P, Hefft S, Bottani A, Pizzolato GP, Magistris MR (2000) Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family. Eur Neurol 43: 50-53
-
(2000)
Eur Neurol
, vol.43
, pp. 50-53
-
-
Kohler, A.1
Burkhard, P.2
Hefft, S.3
Bottani, A.4
Pizzolato, G.P.5
Magistris, M.R.6
-
18
-
-
0034308286
-
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)
-
Kress W, Mueller-Myhsok B, Ricker K, Schneider C, Koch MC, Toyka KV, Mueller CR, Grimm T (2000) Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). Neuromuscul Disord 10:478-480
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 478-480
-
-
Kress, W.1
Mueller-Myhsok, B.2
Ricker, K.3
Schneider, C.4
Koch, M.C.5
Toyka, K.V.6
Mueller, C.R.7
Grimm, T.8
-
19
-
-
0842309189
-
An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation
-
Lamont PJ, Jacob RL, Mastaglia FL, Laing NG (2004) An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation. J Neurol Neurosurg Psychiatry 75:343
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 343
-
-
Lamont, P.J.1
Jacob, R.L.2
Mastaglia, F.L.3
Laing, N.G.4
-
20
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori C, Ricker K, Moseley M, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.1
Ricker, K.2
Moseley, M.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.8
-
21
-
-
0142027589
-
Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract
-
Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP (2003) Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Gen 73: 849-862
-
(2003)
Am J Hum Gen
, vol.73
, pp. 849-862
-
-
Liquori, C.L.1
Ikeda, Y.2
Weatherspoon, M.3
Ricker, K.4
Schoser, B.G.5
Dalton, J.C.6
Day, J.W.7
Ranum, L.P.8
-
22
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-1773
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
Henderson, D.6
Krym, M.7
Thornton, C.A.8
-
23
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10:2165-2170
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.P.3
Moxley, R.T.4
Sansone, V.5
Krym, M.6
Henderson, D.7
Schalling, M.8
Swanson, M.S.9
Thornton, C.A.10
-
24
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10:35-44
-
(2002)
Mol Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
26
-
-
0345526827
-
Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2
-
Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA (2003) Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54:760-768
-
(2003)
Ann Neurol
, vol.54
, pp. 760-768
-
-
Mankodi, A.1
Teng-Umnuay, P.2
Krym, M.3
Henderson, D.4
Swanson, M.5
Thornton, C.A.6
-
27
-
-
0031978737
-
Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
-
Mastaglia FL, Harker N, Philips BA, Day TJ, Hankey GJ, Laing NG, Fabian V, Kakulas BA (1998) Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation. J Neurol Neurosurg Psychiatry 64:543-547
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 543-547
-
-
Mastaglia, F.L.1
Harker, N.2
Philips, B.A.3
Day, T.J.4
Hankey, G.J.5
Laing, N.G.6
Fabian, V.7
Kakulas, B.A.8
-
28
-
-
0029945035
-
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): A challenge for future molecular studies
-
Meola G, Sansone V, Radice S, Skradski S, Ptacek L (1996) A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 6:143-150
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 143-150
-
-
Meola, G.1
Sansone, V.2
Radice, S.3
Skradski, S.4
Ptacek, L.5
-
29
-
-
0033595470
-
Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
-
Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, Fazio F, Thornton CA, Moxley RT (1999) Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 53:1042-1050
-
(1999)
Neurology
, vol.53
, pp. 1042-1050
-
-
Meola, G.1
Sansone, V.2
Perani, D.3
Colleluori, A.4
Cappa, S.5
Cotelli, M.6
Fazio, F.7
Thornton, C.A.8
Moxley, R.T.9
-
30
-
-
0033653152
-
Clinical and genetic heterogeneity in myotonic dystrophies
-
Meola G (2000) Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 23:1789-1799
-
(2000)
Muscle Nerve
, vol.23
, pp. 1789-1799
-
-
Meola, G.1
-
31
-
-
0037081180
-
Proximal myotonic myopathy: A syndrome with a favourable prognosis?
-
rd, Thornton CA, De Ambroggi L (2002) Proximal myotonic myopathy: a syndrome with a favourable prognosis? J Neurol Sci 193:89-96
-
(2002)
J Neurol Sci
, vol.193
, pp. 89-96
-
-
Meola, G.1
Sansone, V.2
Marinou, K.3
Cotelli, M.4
Moxley III, R.T.5
Thornton, C.A.6
De Ambroggi, L.7
-
32
-
-
10744227137
-
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM1) and in proximal myotonic myopathy (DM2/PROMM)
-
Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F, Siciliano G, Mancuso M, Vitelli E, Zhang S, Krahe R, Moxley RT (2003) Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM1) and in proximal myotonic myopathy (DM2/PROMM). Neuromuscul Disord 13:813-821
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 813-821
-
-
Meola, G.1
Sansone, V.2
Perani, D.3
Scarone, S.4
Cappa, S.5
Dragoni, C.6
Cattaneo, E.7
Cotelli, M.8
Gobbo, C.9
Fazio, F.10
Siciliano, G.11
Mancuso, M.12
Vitelli, E.13
Zhang, S.14
Krahe, R.15
Moxley, R.T.16
-
34
-
-
55849097366
-
The myotonic dystrophies
-
Rosenberg RN, Prusiner SB, Di Mauro S, Barchi RL, Nestler EJ (ed) Butterworth-Heinemann, Philadelphia, chapter 47
-
Moxley RT, Meola G (2003) The myotonic dystrophies. In Rosenberg RN, Prusiner SB, Di Mauro S, Barchi RL, Nestler EJ (ed) The molecular and genetic basis of neurologic and psychiatric disease. Butterworth-Heinemann, Philadelphia, chapter 47, pp 511-518
-
(2003)
The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
, pp. 511-518
-
-
Moxley, R.T.1
Meola, G.2
-
35
-
-
0032808817
-
Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy
-
Newman B, Meola G, O'Donovan DG, Schapira AHV, Kingston H (1999) Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy. Neuromuscul Disord 9:144-149
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 144-149
-
-
Newman, B.1
Meola, G.2
O'Donovan, D.G.3
Schapira, A.H.V.4
Kingston, H.5
-
36
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
37
-
-
0032192323
-
PROMM: The expanding phenotype. A family with a proximal myopathy, myotonia and deafness
-
Phillips MF, Rogers MT, Barnetson R, Braun C, Harley HG, Myring J, Stevens D, Wiles CM, Harper PS (1998) PROMM: the expanding phenotype. A family with a proximal myopathy, myotonia and deafness. Neuromuscul Disord 8:439-446
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 439-446
-
-
Phillips, M.F.1
Rogers, M.T.2
Barnetson, R.3
Braun, C.4
Harley, H.G.5
Myring, J.6
Stevens, D.7
Wiles, C.M.8
Harper, P.S.9
-
38
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW (1998) Genetic mapping of a second myotonic dystrophy locus. Nat Genet 19:196-198
-
(1998)
Nat Genet
, vol.19
, pp. 196-198
-
-
Ranum, L.P.W.1
Rasmussen, P.F.2
Benzow, K.A.3
Koob, M.D.4
Day, J.W.5
-
39
-
-
0036729874
-
Myotonic dystrophy: Clinical and molecular parallels between myotonic dystrophy type 1 and type 2
-
Ranum LPW, Day JW (2002) Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep 2:465-470
-
(2002)
Curr Neurol Neurosci Rep
, vol.2
, pp. 465-470
-
-
Ranum, L.P.W.1
Day, J.W.2
-
40
-
-
0036591663
-
Dominantly inherited non-coding microsatellite expansion disorders
-
Ranum LPW, Day JW (2002) Dominantly inherited non-coding microsatellite expansion disorders. Curr Opin Gen & Dev 12:266-271
-
(2002)
Curr Opin Gen & Dev
, vol.12
, pp. 266-271
-
-
Ranum, L.P.W.1
Day, J.W.2
-
41
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
rd. (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Otto, M.5
Heine, R.6
Moxley III, R.T.7
-
42
-
-
0028837404
-
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
-
rd (1995) Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch. Neurol 52:25-31
-
(1995)
Arch. Neurol
, vol.52
, pp. 25-31
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Speich, N.5
Reiners, K.6
Schneider, C.7
Moxley III, R.T.8
-
43
-
-
0032923704
-
Linkage of proximal myotonic myopathy to chromosome 3q
-
Ricker K, Grimm T, Koch MC, Schneider C, Kress W, Reimers CD, Schulte-Mattler W, Mueller-Myhsok B, Toyka KV, Mueller CR (1999) Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 52:170-171
-
(1999)
Neurology
, vol.52
, pp. 170-171
-
-
Ricker, K.1
Grimm, T.2
Koch, M.C.3
Schneider, C.4
Kress, W.5
Reimers, C.D.6
Schulte-Mattler, W.7
Mueller-Myhsok, B.8
Toyka, K.V.9
Mueller, C.R.10
-
44
-
-
0242432590
-
Camptocormie rèv̀latrice d'une myopathie myotonique proximale
-
Paris
-
Rimbaux S, Pellieux S, Bergemer AM, Saïkali I, Gherardi R, Fouquet B (2003) Camptocormie rèv̀latrice d'une myopathie myotonique proximale. Rev Neurol (Paris) 159:678-680
-
(2003)
Rev Neurol
, vol.159
, pp. 678-680
-
-
Rimbaux, S.1
Pellieux, S.2
Bergemer, A.M.3
Saïkali, I.4
Gherardi, R.5
Fouquet, B.6
-
45
-
-
12144286209
-
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)
-
Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessmann M, Krahe R, Udd B (2004) New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul Disord 14:274-283
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 274-283
-
-
Sallinen, R.1
Vihola, A.2
Bachinski, L.L.3
Huoponen, K.4
Haapasalo, H.5
Hackman, P.6
Zhang, S.7
Sirito, M.8
Kalimo, H.9
Meola, G.10
Horelli-Kuitunen, N.11
Wessmann, M.12
Krahe, R.13
Udd, B.14
-
48
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nature Genet 29: 40-47
-
(2001)
Nature Genet
, vol.29
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
49
-
-
2442707986
-
Insulin receptor splicing alteration in myotonic dystrophy type 2
-
Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW (2004) Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet 74:1309-1313
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1309-1313
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
Dalton, J.C.4
Moseley, M.L.5
Ranum, L.P.6
Day, J.W.7
-
50
-
-
0034308227
-
Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)
-
Schneider C, Grimm T, Kress W, Sommer C, Müller CR (2000) Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM). Neuromuscul Disord 10:481-483
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 481-483
-
-
Schneider, C.1
Grimm, T.2
Kress, W.3
Sommer, C.4
Müller, C.R.5
-
51
-
-
0034992228
-
Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes
-
Schneider C, Wessig C, Müller CR, Brechteisbauer D, Grimm T (2001) Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes. Neuromuscul Disord 11: 485-488
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 485-488
-
-
Schneider, C.1
Wessig, C.2
Müller, C.R.3
Brechteisbauer, D.4
Grimm, T.5
-
52
-
-
0036132864
-
Intolerance to neuroleptics and susceptibility for malignant hypertermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia
-
Schneider C, Pedrosa Gil F, Schneider M, Anetseder M, Kress W, Müller CR (2002) Intolerance to neuroleptics and susceptibility for malignant hypertermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia. Neuromuscul Disord 12:31-35
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 31-35
-
-
Schneider, C.1
Pedrosa Gil, F.2
Schneider, M.3
Anetseder, M.4
Kress, W.5
Müller, C.R.6
-
53
-
-
10744226631
-
Muscle pathology in 57 patients with myotonic dystrophy type 2
-
Schoser BGH, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmüller H, Ricker K (2004) Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 29:275-281
-
(2004)
Muscle Nerve
, vol.29
, pp. 275-281
-
-
Schoser, B.G.H.1
Schneider-Gold, C.2
Kress, W.3
Goebel, H.H.4
Reilich, P.5
Koch, M.C.6
Pongratz, D.E.7
Toyka, K.V.8
Lochmüller, H.9
Ricker, K.10
-
54
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant N, Sablonniere B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, Vermersch P, Delacourte A (2001) Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10:2143-2155
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2143-2155
-
-
Sergeant, N.1
Sablonniere, B.2
Schraen-Maschke, S.3
Ghestem, A.4
Maurage, C.A.5
Wattez, A.6
Vermersch, P.7
Delacourte, A.8
-
55
-
-
0034631131
-
An unrecognized cause of camptocormia: Proximal myotonic myopathy
-
Serratrice J, Weiller PJ, Pouget J, Serratrice G (2000) An unrecognized cause of camptocormia: proximal myotonic myopathy. Press Med 29:1121-1123
-
(2000)
Press Med
, vol.29
, pp. 1121-1123
-
-
Serratrice, J.1
Weiller, P.J.2
Pouget, J.3
Serratrice, G.4
-
56
-
-
0033427150
-
Proximal myotonic myopathy: Clinical and molecular investigation of a Norvegian family with PROMM
-
Sun C, Henriksen OA, Tranebjaerg L (1999) Proximal myotonic myopathy: clinical and molecular investigation of a Norvegian family with PROMM. Clin Genet 56:457-461
-
(1999)
Clin Genet
, vol.56
, pp. 457-461
-
-
Sun, C.1
Henriksen, O.A.2
Tranebjaerg, L.3
-
57
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
Taneja KL, McCurrach ME, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128:995-1002
-
(1995)
J Cell Biol
, vol.128
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.E.2
Schalling, M.3
Housman, D.4
Singer, R.H.5
-
58
-
-
0001125916
-
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1
-
The International Myotonic Dystrophy Consortium (IDMC) (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1. Neurology 54:1218-1221
-
(2000)
Neurology
, vol.54
, pp. 1218-1221
-
-
-
59
-
-
0028334933
-
Myotonic dystrophy with no trinucleotide repeat expansion
-
Thornton CA, Griggs RC, Moxley RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269-272
-
(1994)
Ann Neurol
, vol.35
, pp. 269-272
-
-
Thornton, C.A.1
Griggs, R.C.2
Moxley, R.T.3
-
60
-
-
0035896610
-
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGPB1
-
Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT (2001) RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGPB1. J Biol Chem 276:7820-7826
-
(2001)
J Biol Chem
, vol.276
, pp. 7820-7826
-
-
Timchenko, N.A.1
Cai, Z.J.2
Welm, A.L.3
Reddy, S.4
Ashizawa, T.5
Timchenko, L.T.6
-
61
-
-
0031000214
-
Proximal myotonic dystrophy - A family with autosomal dominant muscular dystrophy, cataracts, hearing loss, and hypogonadism: Heterogeneity of proximal myotonic disorders
-
Udd B, Krahe R, Wallgren-Petterson C, Falck B, Kalimo H (1997) Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss, and hypogonadism: heterogeneity of proximal myotonic disorders. Neuromuscul Disord 7:217-228
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 217-228
-
-
Udd, B.1
Krahe, R.2
Wallgren-Petterson, C.3
Falck, B.4
Kalimo, H.5
-
62
-
-
0043073111
-
rd Workshop, 14-16 February 2003, Naarden, the Netherlands
-
rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 13:589-596
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 589-596
-
-
Udd, B.1
Meola, G.2
Krahe, R.3
Thornton, C.4
Ranum, L.5
Day, J.6
Bassez, G.7
Ricker, K.8
-
63
-
-
10744219570
-
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
-
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforet P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B (2003) Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 60:1854-1857
-
(2003)
Neurology
, vol.60
, pp. 1854-1857
-
-
Vihola, A.1
Bassez, G.2
Meola, G.3
Zhang, S.4
Haapasalo, H.5
Paetau, A.6
Mancinelli, E.7
Rouche, A.8
Hogrel, J.Y.9
Laforet, P.10
Maisonobe, T.11
Pellissier, J.F.12
Krahe, R.13
Eymard, B.14
Udd, B.15
-
64
-
-
0031809933
-
Cardiac involvement in proximal myotonic myopathy
-
von zur Muhlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimer CD (1998) Cardiac involvement in proximal myotonic myopathy. Heart 79:619-621
-
(1998)
Heart
, vol.79
, pp. 619-621
-
-
Von Zur Muhlen, F.1
Klass, C.2
Kreuzer, H.3
Mall, G.4
Giese, A.5
Reimer, C.D.6
-
65
-
-
0028940741
-
Myotonic Dystrophy: Evidence for a possibile dominant-negative RNA mutation
-
Wang J, Pegoraro E, Menegazzo E, Giannarelli M, Hoop RC, Angelini C, Hoffman EP (1995) Myotonic Dystrophy: evidence for a possibile dominant-negative RNA mutation. Hum Mol Genet 4:599-606
-
(1995)
Hum Mol Genet
, vol.4
, pp. 599-606
-
-
Wang, J.1
Pegoraro, E.2
Menegazzo, E.3
Giannarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
66
-
-
0343415700
-
A family with PROMM not linked to the recently mapped PROMM locus DM2
-
Wieser T, Bönsch D, Eger K, Schulte-Mattler W, Zierz S (2000) A family with PROMM not linked to the recently mapped PROMM locus DM2. Neuromuscul Disord 10:141-143
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 141-143
-
-
Wieser, T.1
Bönsch, D.2
Eger, K.3
Schulte-Mattler, W.4
Zierz, S.5
|