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Volumn , Issue , 2006, Pages 131-150

Myotonic Dystrophy Type 2: Clinical and Genetic Aspects

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EID: 62549109350     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012369462-1/50009-0     Document Type: Chapter
Times cited : (10)

References (161)
  • 5
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker K., Koch M.C., Lehmann-Horn F., Pongratz D., Otto M., Heine R., Moxley R.T. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994, 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, R.T.7
  • 6
    • 0028334933 scopus 로고
    • Myotonic dystrophy with no trinucleotide repeat expansion
    • Thornton C.A., Griggs R.C., Moxley R.T. Myotonic dystrophy with no trinucleotide repeat expansion. Ann. Neurol. 1994, 35:269-272.
    • (1994) Ann. Neurol , vol.35 , pp. 269-272
    • Thornton, C.A.1    Griggs, R.C.2    Moxley, R.T.3
  • 7
    • 0032191690 scopus 로고    scopus 로고
    • 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes
    • Moxley R.T., Udd B., Ricker K. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. Neuromuscul. Disord. 1998, 8:508-518.
    • (1998) Neuromuscul. Disord , vol.8 , pp. 508-518
    • Moxley, R.T.1    Udd, B.2    Ricker, K.3
  • 9
    • 0026741581 scopus 로고
    • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita
    • [published erratum appears in Am J Hum Genet 1992 Oct; 51(4):942] [see comments]
    • McClatchey A.I., Trofatter J., McKenna-Yasek D., Raskind W., Bird T., Pericak-Vance M., Gilchrist J., Arahata K., Radosavljevic D., Worthen H.G., et al. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am. J. Hum. Genet. 1992, 50:896-901. [published erratum appears in Am J Hum Genet 1992 Oct; 51(4):942] [see comments].
    • (1992) Am. J. Hum. Genet , vol.50 , pp. 896-901
    • McClatchey, A.I.1    Trofatter, J.2    McKenna-Yasek, D.3    Raskind, W.4    Bird, T.5    Pericak-Vance, M.6    Gilchrist, J.7    Arahata, K.8    Radosavljevic, D.9    Worthen, H.G.10
  • 10
    • 0028362190 scopus 로고
    • Proximal weakness as the primary manifestation of myotonic dystrophy in older adults [see comments]
    • Lacomis D., Chad D.A., Smith T.W. Proximal weakness as the primary manifestation of myotonic dystrophy in older adults [see comments]. Muscle Nerve 1994, 17:687-688.
    • (1994) Muscle Nerve , vol.17 , pp. 687-688
    • Lacomis, D.1    Chad, D.A.2    Smith, T.W.3
  • 12
    • 0029025584 scopus 로고
    • Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions
    • Stoll G., von Giesen H.J., Koch M.C., Arendt G., Benecke R. Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions. Muscle Nerve 1995, 18:782-783.
    • (1995) Muscle Nerve , vol.18 , pp. 782-783
    • Stoll, G.1    von Giesen, H.J.2    Koch, M.C.3    Arendt, G.4    Benecke, R.5
  • 14
    • 0029945035 scopus 로고    scopus 로고
    • 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. 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. 1996, 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
  • 16
    • 4243486942 scopus 로고    scopus 로고
    • Magnetic resonance imaging and cognitive alterations in proximal myotonic myopathy (PROMM)
    • Sansone V., Cappa S., Cotelli C., Rognone F., Thornton C.A., Moxley R.T. Magnetic resonance imaging and cognitive alterations in proximal myotonic myopathy (PROMM). Neurology 1997, 48(Suppl.):A231.
    • (1997) Neurology , vol.48 , pp. A231
    • Sansone, V.1    Cappa, S.2    Cotelli, C.3    Rognone, F.4    Thornton, C.A.5    Moxley, R.T.6
  • 17
    • 0028006941 scopus 로고
    • Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2 [letter]
    • Rowland L.P. Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2 [letter]. Ann. Neurol. 1994, 36:803-804.
    • (1994) Ann. Neurol , vol.36 , pp. 803-804
    • Rowland, L.P.1
  • 18
    • 0029804621 scopus 로고    scopus 로고
    • Heat-sensitive myotonia in proximal myotonic myopathy
    • Sander H.W., Tavoulareas G.P., Chokroverty S. Heat-sensitive myotonia in proximal myotonic myopathy. Neurology 1996, 47:956-962.
    • (1996) Neurology , vol.47 , pp. 956-962
    • Sander, H.W.1    Tavoulareas, G.P.2    Chokroverty, S.3
  • 19
    • 0001080182 scopus 로고    scopus 로고
    • Hypothyroidism unmasking proximal myotonic myopathy (PROMM)
    • Griggs R., Sansone V., Lifton A., Moxley R.T. Hypothyroidism unmasking proximal myotonic myopathy (PROMM). Neurology 1997, 48(Suppl.):A267.
    • (1997) Neurology , vol.48 , pp. A267
    • Griggs, R.1    Sansone, V.2    Lifton, A.3    Moxley, R.T.4
  • 20
    • 0000768416 scopus 로고    scopus 로고
    • Insulin resistance in proximal myotonic myopathy (PROMM)
    • Moxley R.T., Sansone V., Lifton A., Thornton C.A. Insulin resistance in proximal myotonic myopathy (PROMM). Neurology 1997, 48(Suppl.):A229.
    • (1997) Neurology , vol.48 , pp. A229
    • Moxley, R.T.1    Sansone, V.2    Lifton, A.3    Thornton, C.A.4
  • 21
    • 0031000214 scopus 로고    scopus 로고
    • Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
    • Udd B., Krahe R., Wallgren-Pettersson C., Falck B., Kalimo H. Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?. Neuromuscul. Disord. 1997, 7:217-228.
    • (1997) Neuromuscul. Disord , vol.7 , pp. 217-228
    • Udd, B.1    Krahe, R.2    Wallgren-Pettersson, C.3    Falck, B.4    Kalimo, H.5
  • 22
    • 0032995065 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    • Day J.W., Roelofs R., Leroy B., Pech I., Benzow K., Ranum L.P. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul. Disord. 1999, 9:19-27.
    • (1999) Neuromuscul. Disord , vol.9 , pp. 19-27
    • Day, J.W.1    Roelofs, R.2    Leroy, B.3    Pech, I.4    Benzow, K.5    Ranum, L.P.6
  • 25
    • 0001796863 scopus 로고    scopus 로고
    • Dominant multi-system proximal myotonic myopathy syndromes: Clinical and genetic heterogeneity in three families
    • Meola G., Udd B., Sansone V., Ptacek L., Lee D., Krahe R. Dominant multi-system proximal myotonic myopathy syndromes: Clinical and genetic heterogeneity in three families. Neurology 1999, 52(Suppl.):A95.
    • (1999) Neurology , vol.52 , pp. A95
    • Meola, G.1    Udd, B.2    Sansone, V.3    Ptacek, L.4    Lee, D.5    Krahe, R.6
  • 26
    • 0036169578 scopus 로고    scopus 로고
    • Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop
    • Moxley R.T., Meola G., Udd B., Ricker K. Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. Neuromuscul. Disord. 2002, 12:306-317.
    • (2002) Neuromuscul. Disord , vol.12 , pp. 306-317
    • Moxley, R.T.1    Meola, G.2    Udd, B.3    Ricker, K.4
  • 27
    • 0001125916 scopus 로고    scopus 로고
    • New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
    • International-Myotonic-Dystrophy-Consortium New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000, 54:1218-1221.
    • (2000) Neurology , vol.54 , pp. 1218-1221
  • 32
    • 0034308286 scopus 로고    scopus 로고
    • 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 M.C., Toyka K.V., Mueller C.R., Grimm T. Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). Neuromuscul. Disord. 2000, 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
  • 33
    • 0033427150 scopus 로고    scopus 로고
    • Proximal myotonic myopathy: Clinical and molecular investigation of a Norwegian family with PROMM
    • Sun C., Henriksen O.A., Tranebjaerg L. Proximal myotonic myopathy: Clinical and molecular investigation of a Norwegian family with PROMM. Clin. Genet. 1999, 56:457-461.
    • (1999) Clin. Genet , vol.56 , pp. 457-461
    • Sun, C.1    Henriksen, O.A.2    Tranebjaerg, L.3
  • 44
    • 0036019171 scopus 로고    scopus 로고
    • A patient with proximal myotonic myopathy and parkinsonism
    • Chu K., Cho J.W., Song E.C., Jeon B.S. A patient with proximal myotonic myopathy and parkinsonism. Can. J. Neurol. Sci. 2002, 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
  • 45
    • 0036132864 scopus 로고    scopus 로고
    • Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia
    • Schneider C., Pedrosa Gil F., Schneider M., Anetseder M., Kress W., Muller C.R. Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia. Neuromuscul. Disord. 2002, 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    Muller, C.R.6
  • 50
    • 0026799274 scopus 로고
    • Anticipation in myotonic dystrophy: I. Statistical verification based on clinical and haplotype findings
    • Ashizawa T., Dunne C.J., Dubel J.M., Perryman M.B., Boerwinkle E., Hejtmancik J.F. Anticipation in myotonic dystrophy: I. Statistical verification based on clinical and haplotype findings. Neurology 1992, 42:1871-1877.
    • (1992) Neurology , vol.42 , pp. 1871-1877
    • Ashizawa, T.1    Dunne, C.J.2    Dubel, J.M.3    Perryman, M.B.4    Boerwinkle, E.5    Hejtmancik, J.F.6
  • 52
    • 0028058252 scopus 로고
    • Effects of sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
    • Ashizawa T., Dunne P.W., Ward P.A., Seltzer W.K., Richards C.S. Effects of sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994, 44:120-122.
    • (1994) Neurology , vol.44 , pp. 120-122
    • Ashizawa, T.1    Dunne, P.W.2    Ward, P.A.3    Seltzer, W.K.4    Richards, C.S.5
  • 54
    • 0032910562 scopus 로고    scopus 로고
    • Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
    • Hamshere M.G., Harley H., Harper P., Brook J.D., Brookfield J.F. Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J. Med. Genet. 1999, 36:59-61.
    • (1999) J. Med. Genet , vol.36 , pp. 59-61
    • Hamshere, M.G.1    Harley, H.2    Harper, P.3    Brook, J.D.4    Brookfield, J.F.5
  • 55
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C., MacKenzie A.E., Mettler G., Barcelo J., Korneluk R.G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat. Genet. 1992, 1:192-195.
    • (1992) Nat. Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelo, J.4    Korneluk, R.G.5
  • 58
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and severe congenital myotonic dystrophy
    • Tsilfidis C., MacKenzie A.E., Mettler G., Barcelo J. Correlation between CTG trinucleotide repeat length and severe congenital myotonic dystrophy. Nat. Genet. 1992, 1:192-195.
    • (1992) Nat. Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelo, J.4
  • 59
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton D.G., Wong L.J., Ashizawa T., Caskey C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Hum. Mol. Genet. 1995, 4:1-8.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.2    Ashizawa, T.3    Caskey, C.T.4
  • 64
    • 0035475642 scopus 로고    scopus 로고
    • Dynamic mutations: A decade of unstable expanded repeats in human genetic disease
    • Richards R.I. Dynamic mutations: A decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet. 2001, 10:2187-2194.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 2187-2194
    • Richards, R.I.1
  • 65
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human
    • Richards R.I., Sutherland G.R. Dynamic mutations: A new class of mutations causing human. Cell 1992, 70:709-712.
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 66
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley C.T., Warren S.T. Trinucleotide repeat expansion and human disease. Annu. Rev. Genet. 1995, 29:703-728.
    • (1995) Annu. Rev. Genet , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 67
    • 0025866192 scopus 로고
    • Ethnic distribution of myotonic dystrophy gene
    • Ashizawa T., Epstein H.F. Ethnic distribution of myotonic dystrophy gene. Lancet 1991, 338:642-643.
    • (1991) Lancet , vol.338 , pp. 642-643
    • Ashizawa, T.1    Epstein, H.F.2
  • 68
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert G., Kretz C., Johnson K., Mandel J.L. Origin of the expansion mutation in myotonic dystrophy. Nat. Genet. 1993, 4:72-76.
    • (1993) Nat. Genet , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.L.4
  • 69
    • 0028156915 scopus 로고
    • High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
    • Neville C.E., Mahadevan M.S., Barcelo J.M., Korneluk R.G. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum. Mol. Genet. 1994, 3:45-51.
    • (1994) Hum. Mol. Genet , vol.3 , pp. 45-51
    • Neville, C.E.1    Mahadevan, M.S.2    Barcelo, J.M.3    Korneluk, R.G.4
  • 70
    • 0030047887 scopus 로고    scopus 로고
    • Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation
    • Yamagata H., Miki T., Nakagawa M., Johnson K., Deka R., Ogihara T. Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation. Hum. Genet. 1996, 97:145-147.
    • (1996) Hum. Genet , vol.97 , pp. 145-147
    • Yamagata, H.1    Miki, T.2    Nakagawa, M.3    Johnson, K.4    Deka, R.5    Ogihara, T.6
  • 72
    • 0027416569 scopus 로고
    • Characterization and polymerase chain reaction (PCR) detection Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy
    • Mahadevan M.S., Foitzik M.A., Surh L.C., Korneluk R.G. Characterization and polymerase chain reaction (PCR) detection Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 1993, 15:446-448.
    • (1993) Genomics , vol.15 , pp. 446-448
    • Mahadevan, M.S.1    Foitzik, M.A.2    Surh, L.C.3    Korneluk, R.G.4
  • 77
    • 0027958086 scopus 로고
    • Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats
    • Goldman A., Ramsay M., Jenkins T. Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J. Med. Genet. 1994, 31:37-40.
    • (1994) J. Med. Genet , vol.31 , pp. 37-40
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 78
    • 0029038408 scopus 로고
    • New founder haplotypes at the myotonic dystrophy locus in southern Africa
    • Goldman A., Ramsay M., Jenkins T. New founder haplotypes at the myotonic dystrophy locus in southern Africa. Am. J. Hum. Genet. 1995, 56:1373-1378.
    • (1995) Am. J. Hum. Genet , vol.56 , pp. 1373-1378
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 79
    • 0030052440 scopus 로고    scopus 로고
    • Ethnicity and myotonic dystrophy: A possible explanation for its absence in sub-Saharan Africa
    • Goldman A., Ramsay M., Jenkins T. Ethnicity and myotonic dystrophy: A possible explanation for its absence in sub-Saharan Africa. Ann. Hum. Genet. 1996, 60:57-65.
    • (1996) Ann. Hum. Genet , vol.60 , pp. 57-65
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 80
    • 0031704375 scopus 로고    scopus 로고
    • Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population
    • Yamagata H., Nakagawa M., Johnson K., Miki T. Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population. J. Hum. Genet. 1998, 43:246-249.
    • (1998) J. Hum. Genet , vol.43 , pp. 246-249
    • Yamagata, H.1    Nakagawa, M.2    Johnson, K.3    Miki, T.4
  • 81
    • 0032971232 scopus 로고    scopus 로고
    • Cis-acting modifiers of expanded CAG CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands
    • Brock G.J., Anderson N.H., Monckton D.G. cis-acting modifiers of expanded CAG CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet. 1999, 8:1061-1067.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1061-1067
    • Brock, G.J.1    Anderson, N.H.2    Monckton, D.G.3
  • 83
    • 0036578758 scopus 로고    scopus 로고
    • Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
    • Cleary J.D., Nichol K., Wang Y.H., Pearson C.E. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet. 2002, 31:37-46.
    • (2002) Nat. Genet , vol.31 , pp. 37-46
    • Cleary, J.D.1    Nichol, K.2    Wang, Y.H.3    Pearson, C.E.4
  • 88
    • 0036158131 scopus 로고    scopus 로고
    • Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10
    • Matsuura T., Ashizawa T. Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann. Neurol. 2002, 51:271-272.
    • (2002) Ann. Neurol , vol.51 , pp. 271-272
    • Matsuura, T.1    Ashizawa, T.2
  • 91
    • 20344387462 scopus 로고    scopus 로고
    • Advanced microscopic and histochemical techniques: Diagnostic tools in the molecular era of myology
    • Meola G. Advanced microscopic and histochemical techniques: Diagnostic tools in the molecular era of myology. Eur. J. Histochem. 2005, 49:93-96.
    • (2005) Eur. J. Histochem , vol.49 , pp. 93-96
    • Meola, G.1
  • 92
    • 4344666094 scopus 로고    scopus 로고
    • A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
    • Bonifazi E., Vallo L., Giardina E., Botta A., Novelli G. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn. Mol. Pathol. 2004, 13:164-166.
    • (2004) Diagn. Mol. Pathol , vol.13 , pp. 164-166
    • Bonifazi, E.1    Vallo, L.2    Giardina, E.3    Botta, A.4    Novelli, G.5
  • 95
    • 4444299702 scopus 로고    scopus 로고
    • Pathogenic RNA repeats: An expanding role in genetic disease
    • Ranum L.P., Day J.W. Pathogenic RNA repeats: An expanding role in genetic disease. Trends Genet 2004, 20:506-512.
    • (2004) Trends Genet , vol.20 , pp. 506-512
    • Ranum, L.P.1    Day, J.W.2
  • 96
    • 15044354661 scopus 로고    scopus 로고
    • RNA pathogenesis of the myotonic dystrophies
    • Day J.W., Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 2005, 15:5-16.
    • (2005) Neuromuscul. Disord , vol.15 , pp. 5-16
    • Day, J.W.1    Ranum, L.P.2
  • 97
    • 0034639857 scopus 로고    scopus 로고
    • Understanding the molecular basis of fragile X syndrome
    • Jin P., Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum. Mol. Genet. 2000, 9:901-908.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 901-908
    • Jin, P.1    Warren, S.T.2
  • 98
    • 0032145086 scopus 로고    scopus 로고
    • Molecular genetics and pathogenesis of Friedreich ataxia
    • Pandolfo M. Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul. Disord. 1998, 8:409-415.
    • (1998) Neuromuscul. Disord , vol.8 , pp. 409-415
    • Pandolfo, M.1
  • 99
    • 0037194897 scopus 로고    scopus 로고
    • Polyglutamine pathogenesis: Emergence of unifying mechanisms for Huntington's disease and related disorders
    • Ross C.A. Polyglutamine pathogenesis: Emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 2002, 35:819-822.
    • (2002) Neuron , vol.35 , pp. 819-822
    • Ross, C.A.1
  • 100
    • 0033073594 scopus 로고    scopus 로고
    • Myotonic dystrophy: The role of RNA CUG triplet repeats
    • Timchenko L.T. Myotonic dystrophy: The role of RNA CUG triplet repeats. Am. J. Hum. Genet. 1999, 64:360-364.
    • (1999) Am. J. Hum. Genet , vol.64 , pp. 360-364
    • Timchenko, L.T.1
  • 101
    • 0034623425 scopus 로고    scopus 로고
    • Deconstructing myotonic dystrophy
    • Tapscott S.J. Deconstructing myotonic dystrophy. Science 2000, 289:1701-1702.
    • (2000) Science , vol.289 , pp. 1701-1702
    • Tapscott, S.J.1
  • 106
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja K.L., McCurrach M., Schalling M., Housman D., Singer R.H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 1995, 128:995-1002.
    • (1995) J. Cell Biol , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 108
    • 0030841672 scopus 로고    scopus 로고
    • Expansion of a CUG trinucleotide repeat in the 3? untranslated region of myotonic dystrophy protein kinase transcrips results in nuclear retention of transcripts
    • Davis B.M., McCurrach M.E., Taneja K.L., Singer R.H., Housman D.E. Expansion of a CUG trinucleotide repeat in the 3? untranslated region of myotonic dystrophy protein kinase transcrips results in nuclear retention of transcripts. Proc. Nat. Acad. Sci. USA 1997, 94:7388-7393.
    • (1997) Proc. Nat. 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
  • 109
    • 0032555056 scopus 로고    scopus 로고
    • Giant hairpins formed by CUG repeats in myotonic dystrophy messenger RNAs might sterically block RNA export through nuclear pores
    • Koch K.S., Leffert H.L. Giant hairpins formed by CUG repeats in myotonic dystrophy messenger RNAs might sterically block RNA export through nuclear pores. J. Theor. Biol. 1998, 192:505-514.
    • (1998) J. Theor. Biol , vol.192 , pp. 505-514
    • Koch, K.S.1    Leffert, H.L.2
  • 110
    • 0033638394 scopus 로고    scopus 로고
    • Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios
    • Tiscornia G., Mahadevan M.S. Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Mol. Cell 2000, 5:959-967.
    • (2000) Mol. Cell , vol.5 , pp. 959-967
    • Tiscornia, G.1    Mahadevan, M.S.2
  • 111
    • 0030968054 scopus 로고    scopus 로고
    • RNA metabolism in myotonic dystrophy: Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance
    • Morrone A., Pegoraro E., Angelini C., Zammarchi E., Marconi G., Hoffman E.P. RNA metabolism in myotonic dystrophy: Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J. Clin. Invest. 1997, 99:1691-1698.
    • (1997) J. Clin. Invest , vol.99 , pp. 1691-1698
    • Morrone, A.1    Pegoraro, E.2    Angelini, C.3    Zammarchi, E.4    Marconi, G.5    Hoffman, E.P.6
  • 113
    • 0027941198 scopus 로고
    • Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
    • Wang Y.-H., Amirhaeri S., Kang S., Wells R.D., Griffith J.D. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 1994, 265:669-671.
    • (1994) Science , vol.265 , pp. 669-671
    • Wang, Y.-H.1    Amirhaeri, S.2    Kang, S.3    Wells, R.D.4    Griffith, J.D.5
  • 114
    • 0028932050 scopus 로고
    • Expanded CTG triplet repeat blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning element
    • Wang Y.-H., Griffith J. Expanded CTG triplet repeat blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning element. Genomics 1995, 25:570-573.
    • (1995) Genomics , vol.25 , pp. 570-573
    • Wang, Y.-H.1    Griffith, J.2
  • 115
    • 0033198739 scopus 로고    scopus 로고
    • Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
    • Michalowski S., Miller J.W., Urbinati C.R., Paliouras M., Swanson M.S., Griffith J. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res. 1999, 27:3534-3542.
    • (1999) Nucleic Acids Res , vol.27 , pp. 3534-3542
    • Michalowski, S.1    Miller, J.W.2    Urbinati, C.R.3    Paliouras, M.4    Swanson, M.S.5    Griffith, J.6
  • 116
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet. 1997, 16:402-406.
    • (1997) Nat. Genet , vol.16 , pp. 402-406
    • Klesert, T.R.1    Otten, A.D.2    Bird, T.D.3    Tapscott, S.J.4
  • 117
    • 0030861573 scopus 로고    scopus 로고
    • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
    • Thornton C.A., Wymer J.P., Simmons Z., McClain C., Moxley R.T. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat. Genet. 1997, 16:407-409.
    • (1997) Nat. Genet , vol.16 , pp. 407-409
    • Thornton, C.A.1    Wymer, J.P.2    Simmons, Z.3    McClain, C.4    Moxley, R.T.5
  • 121
    • 0032837927 scopus 로고    scopus 로고
    • Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
    • Alwazzan M., Newman E., Hamshere M.G., Brook J.D. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum. Mol. Genet. 1999, 8:1491-1497.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1491-1497
    • Alwazzan, M.1    Newman, E.2    Hamshere, M.G.3    Brook, J.D.4
  • 122
    • 0029038947 scopus 로고
    • Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
    • Jansen G., Bachner D., Coerwinkel M., Wormskamp N., Hameister H., Wieringa B. Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum. Mol. Genet. 1995, 4:843-852.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 843-852
    • Jansen, G.1    Bachner, D.2    Coerwinkel, M.3    Wormskamp, N.4    Hameister, H.5    Wieringa, B.6
  • 123
    • 0031911365 scopus 로고    scopus 로고
    • The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat
    • Steinbach P., Glaser D., Vogel W., Wolf M., Schwemmle S. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am. J. Hum. Genet. 1998, 62:278-285.
    • (1998) Am. J. Hum. Genet , vol.62 , pp. 278-285
    • Steinbach, P.1    Glaser, D.2    Vogel, W.3    Wolf, M.4    Schwemmle, S.5
  • 125
    • 0035445656 scopus 로고    scopus 로고
    • The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation
    • Amack J.D., Mahadevan M.S. The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. Hum. Mol. Genet. 2001, 10:1879-1887.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1879-1887
    • Amack, J.D.1    Mahadevan, M.S.2
  • 126
    • 0032997461 scopus 로고    scopus 로고
    • n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: Implications for congenital myotonic dystrophy
    • n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: Implications for congenital myotonic dystrophy. Biochim. Biophys. Acta 1999, 1453:221-229.
    • (1999) Biochim. Biophys. Acta , vol.1453 , pp. 221-229
    • Bhagwati, S.1    Shafiq, S.A.2    Xu, W.3
  • 127
    • 0033554611 scopus 로고    scopus 로고
    • An expanded CTG trinucleotide repeat causes trans RNA interference: A new hypothesis for the pathogenesis of myotonic dystrophy
    • Sasagawa N., Takahashi N., Suzuki K., Ishiura S. An expanded CTG trinucleotide repeat causes trans RNA interference: A new hypothesis for the pathogenesis of myotonic dystrophy. Biochem. Biophys. Res. Commun. 1999, 264:76-80.
    • (1999) Biochem. Biophys. Res. Commun , vol.264 , pp. 76-80
    • Sasagawa, N.1    Takahashi, N.2    Suzuki, K.3    Ishiura, S.4
  • 130
    • 0030043709 scopus 로고    scopus 로고
    • Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy
    • Timchenko L.T., Timchenko N.A., Caskey C.T., Roberts R. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy. Hum. Mol. Genet. 1996, 5:115-121.
    • (1996) Hum. Mol. Genet , vol.5 , pp. 115-121
    • Timchenko, L.T.1    Timchenko, N.A.2    Caskey, C.T.3    Roberts, R.4
  • 132
  • 133
    • 20144372282 scopus 로고    scopus 로고
    • RNA CUG-binding protein 1 increases translation of 20-kDa isoform of CCAAT/enhancer-binding protein beta by interacting with the alpha and beta subunits of eukaryotic initiation translation factor 2
    • Timchenko N.A., Wang G.L., Timchenko L.T. RNA CUG-binding protein 1 increases translation of 20-kDa isoform of CCAAT/enhancer-binding protein beta by interacting with the alpha and beta subunits of eukaryotic initiation translation factor 2. J. Biol. Chem. 2005, 280:20549-20557.
    • (2005) J. Biol. Chem , vol.280 , pp. 20549-20557
    • Timchenko, N.A.1    Wang, G.L.2    Timchenko, L.T.3
  • 134
    • 0033570899 scopus 로고    scopus 로고
    • CUG repeat binding protein (CUGBP1) interacts with the 5? region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms
    • Timchenko N.A., Welm A.L., Lu X., Timchenko L.T. CUG repeat binding protein (CUGBP1) interacts with the 5? region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms. Nucleic Acids Res. 1999, 27:4517-4525.
    • (1999) Nucleic Acids Res , vol.27 , pp. 4517-4525
    • Timchenko, N.A.1    Welm, A.L.2    Lu, X.3    Timchenko, L.T.4
  • 136
    • 0035394801 scopus 로고    scopus 로고
    • In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
    • Fardaei M., Larkin K., Brook J.D., Hamshere M.G. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res. 2001, 29:2766-2771.
    • (2001) Nucleic Acids Res , vol.29 , pp. 2766-2771
    • Fardaei, M.1    Larkin, K.2    Brook, J.D.3    Hamshere, M.G.4
  • 137
    • 14044252328 scopus 로고    scopus 로고
    • MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
    • Dansithong W., Paul S., Comai L., Reddy S. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J. Biol. Chem. 2005, 280:5773-5780.
    • (2005) J. Biol. Chem , vol.280 , pp. 5773-5780
    • Dansithong, W.1    Paul, S.2    Comai, L.3    Reddy, S.4
  • 139
    • 23744450059 scopus 로고    scopus 로고
    • Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
    • Ho T.H., Savkur R.S., Poulos M.G., Mancini M.A., Swanson M.S., Cooper T.A. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J. Cell. Sci. 2005, 118:2923-2933.
    • (2005) J. Cell. Sci , vol.118 , pp. 2923-2933
    • Ho, T.H.1    Savkur, R.S.2    Poulos, M.G.3    Mancini, M.A.4    Swanson, M.S.5    Cooper, T.A.6
  • 143
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998, 280:737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 144
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur R.S., Philips A.V., Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 2001, 29:40-47.
    • (2001) Nat. Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 145
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi A., Takahashi M.P., Jiang H., Beck C.L., Bowers W.J., Moxley R.T., Cannon S.C., Thornton C.A. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 2002, 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
  • 146
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet B.N., Savkur R.S., Singh G., Philips A.V., Grice E.A., Cooper T.A. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 2002, 10:45-53.
    • (2002) Mol. Cell , vol.10 , pp. 45-53
    • Charlet, B.N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 147
    • 11144260152 scopus 로고    scopus 로고
    • Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current
    • Berg J., Jiang H., Thornton C.A., Cannon S.C. Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current. Neurology 2004, 63:2371-2375.
    • (2004) Neurology , vol.63 , pp. 2371-2375
    • Berg, J.1    Jiang, H.2    Thornton, C.A.3    Cannon, S.C.4
  • 149
    • 11044233708 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
    • Jiang H., Mankodi A., Swanson M.S., Moxley R.T., Thornton C.A. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum. Mol Genet. 2004, 13:3079-3088.
    • (2004) Hum. Mol Genet , vol.13 , pp. 3079-3088
    • Jiang, H.1    Mankodi, A.2    Swanson, M.S.3    Moxley, R.T.4    Thornton, C.A.5
  • 150
    • 17144427268 scopus 로고    scopus 로고
    • Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1
    • Wang Y., Wang J., Gao L., Lafyatis R., Stamm S., Andreadis A. Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1. J. Biol. Chem. 2005, 280:14230-14239.
    • (2005) J. Biol. Chem , vol.280 , pp. 14230-14239
    • Wang, Y.1    Wang, J.2    Gao, L.3    Lafyatis, R.4    Stamm, S.5    Andreadis, A.6
  • 154
    • 0346373752 scopus 로고    scopus 로고
    • RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
    • Ebralidze A., Wang Y., Petkova V., Ebralidse K., Junghans R.P. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 2004, 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
  • 155
    • 0036787010 scopus 로고    scopus 로고
    • Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins
    • Timchenko L.T., Iakova P., Welm A.L., Cai Z.J., Timchenko N.A. Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins. Mol. Cell. Biol. 2002, 22:7242-7257.
    • (2002) Mol. Cell. Biol , vol.22 , pp. 7242-7257
    • Timchenko, L.T.1    Iakova, P.2    Welm, A.L.3    Cai, Z.J.4    Timchenko, N.A.5
  • 156
    • 1842529234 scopus 로고    scopus 로고
    • Overexpression of CUG triplet repeatbinding protein, CUGBP1, in mice inhibits myogenesis
    • Timchenko N.A., Patel R., Iakova P., Cai Z.J., Quan L., Timchenko L.T. Overexpression of CUG triplet repeatbinding protein, CUGBP1, in mice inhibits myogenesis. J. Biol. Chem. 2004, 279:13129-13139.
    • (2004) J. Biol. Chem , vol.279 , pp. 13129-13139
    • Timchenko, N.A.1    Patel, R.2    Iakova, P.3    Cai, Z.J.4    Quan, L.5    Timchenko, L.T.6
  • 157
    • 22444446047 scopus 로고    scopus 로고
    • HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence
    • Kim D.H., Langlois M.A., Lee K.B., Riggs A.D., Puymirat J., Rossi J.J. HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res. 2005, 33:3866-3874.
    • (2005) Nucleic Acids Res , vol.33 , pp. 3866-3874
    • Kim, D.H.1    Langlois, M.A.2    Lee, K.B.3    Riggs, A.D.4    Puymirat, J.5    Rossi, J.J.6
  • 158
    • 0344531040 scopus 로고    scopus 로고
    • Transgenic mouse models for myotonic dystrophy type 1 (DM1)
    • Wansink D.G., Wieringa B. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Cytogenet. Genome. Res. 2003, 100:230-242.
    • (2003) Cytogenet. Genome. Res , vol.100 , pp. 230-242
    • Wansink, D.G.1    Wieringa, B.2
  • 159
    • 0037383855 scopus 로고    scopus 로고
    • The zinc-finger protein CNBP is required for forebrain formation in the mouse
    • Chen W., Liang Y., Deng W., Shimizu K., Ashique A.M., Li E., Li Y.P. The zinc-finger protein CNBP is required for forebrain formation in the mouse. Development 2003, 130:1367-1379.
    • (2003) Development , vol.130 , pp. 1367-1379
    • Chen, W.1    Liang, Y.2    Deng, W.3    Shimizu, K.4    Ashique, A.M.5    Li, E.6    Li, Y.P.7


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