메뉴 건너뛰기




Volumn 18, Issue 4, 2011, Pages 230-238

Nemaline myopathies

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; ALPHA TROPOMYOSIN; ANTISENSE OLIGONUCLEOTIDE; ATALUREN; BETA TROPOMYOSIN; COFILIN 2; COMPLEMENTARY DNA; NEBULIN; TROPOMYOSIN; TROPONIN T; TYROSINE; UNCLASSIFIED DRUG; VIRUS VECTOR;

EID: 83455263562     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2011.10.004     Document Type: Article
Times cited : (132)

References (73)
  • 1
    • 0016661085 scopus 로고
    • Zebra body myopathy. Clinical, histochemical and ultrastructural studies
    • Lake B.D., Wilson J. Zebra body myopathy. Clinical, histochemical and ultrastructural studies. J Neurol Sci 1975, 24:437-446.
    • (1975) J Neurol Sci , vol.24 , pp. 437-446
    • Lake, B.D.1    Wilson, J.2
  • 2
    • 0001313262 scopus 로고
    • Nemaline myopathy. A new congenital myopathy
    • Shy G.M., Engel W.K., Somers J.E., et al. Nemaline myopathy. A new congenital myopathy. Brain 1963, 86:793-810.
    • (1963) Brain , vol.86 , pp. 793-810
    • Shy, G.M.1    Engel, W.K.2    Somers, J.E.3
  • 3
    • 78649796274 scopus 로고    scopus 로고
    • Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
    • Sambuughin N., Yau K.S., Olivé M., et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010, 87:842-847.
    • (2010) Am J Hum Genet , vol.87 , pp. 842-847
    • Sambuughin, N.1    Yau, K.S.2    Olivé, M.3
  • 4
    • 4344649461 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
    • Wallgren-Pettersson C., Pelin K., Nowak K.J., et al. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin. Neuromuscul Disord 2004, 14:461-470.
    • (2004) Neuromuscul Disord , vol.14 , pp. 461-470
    • Wallgren-Pettersson, C.1    Pelin, K.2    Nowak, K.J.3
  • 5
    • 27144466330 scopus 로고    scopus 로고
    • Sporadic late onset nemaline myopathy
    • Chahin N., Selcen D., Engel A.G. Sporadic late onset nemaline myopathy. Neurology 2005, 65:1158-1164.
    • (2005) Neurology , vol.65 , pp. 1158-1164
    • Chahin, N.1    Selcen, D.2    Engel, A.G.3
  • 6
    • 53749108118 scopus 로고    scopus 로고
    • Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy
    • Benveniste O., Laforet P., et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 2008, 71:531-532.
    • (2008) Neurology , vol.71 , pp. 531-532
    • Benveniste, O.1    Laforet, P.2
  • 7
    • 53749106962 scopus 로고    scopus 로고
    • Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant
    • Voermans N.C., Minnema M., Lammens M., et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 2008, 71:532-534.
    • (2008) Neurology , vol.71 , pp. 532-534
    • Voermans, N.C.1    Minnema, M.2    Lammens, M.3
  • 8
    • 76649126372 scopus 로고    scopus 로고
    • Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy
    • Novy J., Rosselet A., Spertini O., et al. Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy. Muscle Nerve 2010, 41:286-287.
    • (2010) Muscle Nerve , vol.41 , pp. 286-287
    • Novy, J.1    Rosselet, A.2    Spertini, O.3
  • 9
    • 0028852835 scopus 로고
    • A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    • Laing N.G., Wilton S.D., Akkari P.A., et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995, 9:75-79.
    • (1995) Nat Genet , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3
  • 10
    • 34047133846 scopus 로고    scopus 로고
    • A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study
    • Pénisson-Besnier I., Monnier N., Toutain A., et al. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study. Neuromuscul Disord 2007, 17:330-337.
    • (2007) Neuromuscul Disord , vol.17 , pp. 330-337
    • Pénisson-Besnier, I.1    Monnier, N.2    Toutain, A.3
  • 11
    • 77951255913 scopus 로고    scopus 로고
    • Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation
    • Kiphuth I.C., Krause S., Huttner H.B., et al. Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation. J Neurol 2010, 257:658-660.
    • (2010) J Neurol , vol.257 , pp. 658-660
    • Kiphuth, I.C.1    Krause, S.2    Huttner, H.B.3
  • 12
    • 0032723891 scopus 로고    scopus 로고
    • Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
    • Tan P., Briner J., Boltshauser E., et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord 1999, 9:573-579.
    • (1999) Neuromuscul Disord , vol.9 , pp. 573-579
    • Tan, P.1    Briner, J.2    Boltshauser, E.3
  • 13
    • 41849085932 scopus 로고    scopus 로고
    • Mutations in TPM3 are a common cause of congenital fiber type disproportion
    • Clarke N.F., Kolski H., Dye D.E., et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 2008, 63:329-337.
    • (2008) Ann Neurol , vol.63 , pp. 329-337
    • Clarke, N.F.1    Kolski, H.2    Dye, D.E.3
  • 14
    • 75149179143 scopus 로고    scopus 로고
    • Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
    • Lawlor M.W., Dechene E.T., Roumm E., et al. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat 2010, 31:176-183.
    • (2010) Hum Mutat , vol.31 , pp. 176-183
    • Lawlor, M.W.1    Dechene, E.T.2    Roumm, E.3
  • 15
    • 78650200464 scopus 로고    scopus 로고
    • Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
    • Munot P., Lashley D., Jungbluth H., et al. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. Neuromuscul Disord 2010, 20:796-800.
    • (2010) Neuromuscul Disord , vol.20 , pp. 796-800
    • Munot, P.1    Lashley, D.2    Jungbluth, H.3
  • 16
    • 50149086514 scopus 로고    scopus 로고
    • Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
    • Lehtokari V.L., Pelin K., Donner K., et al. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet 2008, 16:1055-1061.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1055-1061
    • Lehtokari, V.L.1    Pelin, K.2    Donner, K.3
  • 18
    • 33748360319 scopus 로고    scopus 로고
    • Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    • Lehtokari V.L., Pelin K., Sandbacka M., et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006, 27:946-956.
    • (2006) Hum Mutat , vol.27 , pp. 946-956
    • Lehtokari, V.L.1    Pelin, K.2    Sandbacka, M.3
  • 19
    • 0024493023 scopus 로고
    • Congenital nemaline myopathy. A clinical follow-up of twelve patients
    • Wallgren-Pettersson C. Congenital nemaline myopathy. A clinical follow-up of twelve patients. J Neurol Sci 1989, 89:1-14.
    • (1989) J Neurol Sci , vol.89 , pp. 1-14
    • Wallgren-Pettersson, C.1
  • 20
    • 34250854550 scopus 로고    scopus 로고
    • Distal myopathy caused by homozygous missense mutations in the nebulin gene
    • Wallgren-Pettersson C., Lehtokari V.L., Kalimo H., et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007, 130:1465-1476.
    • (2007) Brain , vol.130 , pp. 1465-1476
    • Wallgren-Pettersson, C.1    Lehtokari, V.L.2    Kalimo, H.3
  • 21
    • 79960909613 scopus 로고    scopus 로고
    • Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
    • Lehtokari V.L., Pelin K., Herczegfalvi A., et al. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord 2011, 8:556-562.
    • (2011) Neuromuscul Disord , vol.8 , pp. 556-562
    • Lehtokari, V.L.1    Pelin, K.2    Herczegfalvi, A.3
  • 22
    • 70349755728 scopus 로고    scopus 로고
    • Core-rod myopathy caused by mutations in the nebulin gene
    • Romero N.B., Lehtokari V.L., Quijano-Roy S., et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009, 73:1159-1161.
    • (2009) Neurology , vol.73 , pp. 1159-1161
    • Romero, N.B.1    Lehtokari, V.L.2    Quijano-Roy, S.3
  • 23
    • 61849123795 scopus 로고    scopus 로고
    • The exon 55 deletion in the nebulin gene-One single founder mutation with world-wide occurrence
    • Lehtokari V.L., Greenleaf R.S., Dechene E.T., et al. The exon 55 deletion in the nebulin gene-One single founder mutation with world-wide occurrence. Neuromuscul Disord 2009, 19:179-181.
    • (2009) Neuromuscul Disord , vol.19 , pp. 179-181
    • Lehtokari, V.L.1    Greenleaf, R.S.2    Dechene, E.T.3
  • 24
    • 0025318511 scopus 로고
    • Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy
    • Wallgren-Pettersson C., Kivisaari L., Jääskeläinen J., et al. Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy. Pediatr Neurol 1990, 6:20-28.
    • (1990) Pediatr Neurol , vol.6 , pp. 20-28
    • Wallgren-Pettersson, C.1    Kivisaari, L.2    Jääskeläinen, J.3
  • 25
    • 9644288164 scopus 로고    scopus 로고
    • Magnetic resonance imaging of muscle in nemaline myopathy
    • Jungbluth H., Sewry C.A., Counsell S., et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord 2004, 14:779-784.
    • (2004) Neuromuscul Disord , vol.14 , pp. 779-784
    • Jungbluth, H.1    Sewry, C.A.2    Counsell, S.3
  • 26
    • 69549129388 scopus 로고    scopus 로고
    • Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)
    • Laing N.G., Dye D.E., Wallgren-Pettersson C., et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009, 30:1267-1277.
    • (2009) Hum Mutat , vol.30 , pp. 1267-1277
    • Laing, N.G.1    Dye, D.E.2    Wallgren-Pettersson, C.3
  • 27
    • 33847623295 scopus 로고    scopus 로고
    • Nemaline myopathy caused by absence of alpha-skeletal muscle actin
    • Nowak K.J., Sewry C.A., Navarro C., et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol 2007, 61:175-184.
    • (2007) Ann Neurol , vol.61 , pp. 175-184
    • Nowak, K.J.1    Sewry, C.A.2    Navarro, C.3
  • 29
    • 0036133714 scopus 로고    scopus 로고
    • Mutations in the β-tropomyosin (TPM2) gene-A rare cause of nemaline myopathy
    • Donner K., Ollikainen M., Ridanpää M., et al. Mutations in the β-tropomyosin (TPM2) gene-A rare cause of nemaline myopathy. Neuromuscul Disord 2002, 12:151-158.
    • (2002) Neuromuscul Disord , vol.12 , pp. 151-158
    • Donner, K.1    Ollikainen, M.2    Ridanpää, M.3
  • 30
    • 0037369803 scopus 로고    scopus 로고
    • Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
    • Sung S.S., Brassington A.M., Grannatt K., et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003, 72:681-690.
    • (2003) Am J Hum Genet , vol.72 , pp. 681-690
    • Sung, S.S.1    Brassington, A.M.2    Grannatt, K.3
  • 31
    • 59149084539 scopus 로고    scopus 로고
    • Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy
    • Monnier N., Lunardi J., Marty I., et al. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord 2009, 19:118-123.
    • (2009) Neuromuscul Disord , vol.19 , pp. 118-123
    • Monnier, N.1    Lunardi, J.2    Marty, I.3
  • 32
    • 34249049197 scopus 로고    scopus 로고
    • Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
    • Lehtokari V.L., Ceuterick-de Groote C., de Jonghe P., et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007, 17:433-442.
    • (2007) Neuromuscul Disord , vol.17 , pp. 433-442
    • Lehtokari, V.L.1    Ceuterick-de Groote, C.2    de Jonghe, P.3
  • 33
    • 34548650911 scopus 로고    scopus 로고
    • Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)
    • Tajsharghi H., Ohlsson M., Lindberg C., et al. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 2007, 64:1334-1338.
    • (2007) Arch Neurol , vol.64 , pp. 1334-1338
    • Tajsharghi, H.1    Ohlsson, M.2    Lindberg, C.3
  • 34
    • 0033799745 scopus 로고    scopus 로고
    • A novel nemaline myopathy in the Amish caused by a mutation in troponin
    • Johnston J.J., Kelley R.I., Crawford T.O., et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin. Am J Hum Genet 2000, 67:814-821.
    • (2000) Am J Hum Genet , vol.67 , pp. 814-821
    • Johnston, J.J.1    Kelley, R.I.2    Crawford, T.O.3
  • 35
    • 33845977054 scopus 로고    scopus 로고
    • Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    • Agrawal P.B., Greenleaf R.S., Tomczak K.K., et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007, 80:162-167.
    • (2007) Am J Hum Genet , vol.80 , pp. 162-167
    • Agrawal, P.B.1    Greenleaf, R.S.2    Tomczak, K.K.3
  • 36
    • 33748035740 scopus 로고    scopus 로고
    • Intranuclear nemaline rod myopathy
    • Kaimaktchiev V., Goebel H., Laing N., et al. Intranuclear nemaline rod myopathy. Muscle Nerve 2006, 34:369-372.
    • (2006) Muscle Nerve , vol.34 , pp. 369-372
    • Kaimaktchiev, V.1    Goebel, H.2    Laing, N.3
  • 38
    • 0019304558 scopus 로고
    • Immunofluorescence microscopy of a myopathy. Alpha-actinin is a major constituent of nemaline rods
    • Jockusch B.M., Veldman H., Griffiths G.W., et al. Immunofluorescence microscopy of a myopathy. Alpha-actinin is a major constituent of nemaline rods. Exp Cell Res 1980, 127:409-420.
    • (1980) Exp Cell Res , vol.127 , pp. 409-420
    • Jockusch, B.M.1    Veldman, H.2    Griffiths, G.W.3
  • 39
    • 0036301051 scopus 로고    scopus 로고
    • Muscle Z-band ultrastructure: Titin Z-repeats and Z-band periodicities do not match
    • Luther P.K., Squire J.M. Muscle Z-band ultrastructure: Titin Z-repeats and Z-band periodicities do not match. J Mol Biol 2002, 319:1157-1164.
    • (2002) J Mol Biol , vol.319 , pp. 1157-1164
    • Luther, P.K.1    Squire, J.M.2
  • 40
    • 0034992606 scopus 로고    scopus 로고
    • Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene
    • Ilkovski B., Cooper S.T., Nowak K., et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet 2001, 68:1333-1343.
    • (2001) Am J Hum Genet , vol.68 , pp. 1333-1343
    • Ilkovski, B.1    Cooper, S.T.2    Nowak, K.3
  • 41
    • 0019924573 scopus 로고
    • Nemaline myopathy rod bodies. Structure and composition
    • Yamaguchi M., Robson R.M., Stromer M.H., et al. Nemaline myopathy rod bodies. Structure and composition. J Neurol Sci 1982, 56:35-56.
    • (1982) J Neurol Sci , vol.56 , pp. 35-56
    • Yamaguchi, M.1    Robson, R.M.2    Stromer, M.H.3
  • 42
    • 0042702009 scopus 로고    scopus 로고
    • Beyond LGMD1A: Myotilin is a component of central core lesions and nemaline rods
    • Schröder R., Reimann J., Salmikangas P., et al. Beyond LGMD1A: Myotilin is a component of central core lesions and nemaline rods. Neuromuscul Disord 2003, 13:451-455.
    • (2003) Neuromuscul Disord , vol.13 , pp. 451-455
    • Schröder, R.1    Reimann, J.2    Salmikangas, P.3
  • 43
    • 64549111769 scopus 로고    scopus 로고
    • Congenital myopathies-A comprehensive update of recent advancements
    • Sharma M.C., Jain D., Sarkar C., et al. Congenital myopathies-A comprehensive update of recent advancements. Acta Neurol Scand 2009, 119:281-292.
    • (2009) Acta Neurol Scand , vol.119 , pp. 281-292
    • Sharma, M.C.1    Jain, D.2    Sarkar, C.3
  • 44
    • 0035096856 scopus 로고    scopus 로고
    • Nebulin expression in patients with nemaline myopathy
    • Gurgel-Giannetti J., Reed U., Bang M.L., et al. Nebulin expression in patients with nemaline myopathy. Neuromuscul Disord 2001, 11:154-162.
    • (2001) Neuromuscul Disord , vol.11 , pp. 154-162
    • Gurgel-Giannetti, J.1    Reed, U.2    Bang, M.L.3
  • 45
    • 77951877731 scopus 로고    scopus 로고
    • In vitro analysis of rod composition and actin dynamics in inherited myopathies
    • Vandebrouck A., Domazetovska A., Mokbel N., et al. In vitro analysis of rod composition and actin dynamics in inherited myopathies. J Neuropathol Exp Neurol 2010, 69:429-441.
    • (2010) J Neuropathol Exp Neurol , vol.69 , pp. 429-441
    • Vandebrouck, A.1    Domazetovska, A.2    Mokbel, N.3
  • 46
    • 78650304702 scopus 로고    scopus 로고
    • A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance
    • Ravenscroft G., Wilmshurst J.M., Pillay K., et al. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance. Neuromuscul Disord 2011, 21:31-36.
    • (2011) Neuromuscul Disord , vol.21 , pp. 31-36
    • Ravenscroft, G.1    Wilmshurst, J.M.2    Pillay, K.3
  • 47
    • 10744219570 scopus 로고    scopus 로고
    • Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
    • Vihola A., Bassez G., Meola G., et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003, 60:1854-1857.
    • (2003) Neurology , vol.60 , pp. 1854-1857
    • Vihola, A.1    Bassez, G.2    Meola, G.3
  • 48
    • 0034326318 scopus 로고    scopus 로고
    • An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
    • Monnier N., Romero N.B., Lerale J., et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000, 9:2599-2608.
    • (2000) Hum Mol Genet , vol.9 , pp. 2599-2608
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3
  • 49
    • 76049085876 scopus 로고    scopus 로고
    • Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
    • Zvaritch E., Kraeva N., Bombardier E., et al. Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc Natl Acad Sci U S A 2009, 106:21813-21818.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 21813-21818
    • Zvaritch, E.1    Kraeva, N.2    Bombardier, E.3
  • 50
    • 66349112238 scopus 로고    scopus 로고
    • Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin
    • Nowak K.J., Ravenscroft G., Jackaman C., et al. Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol 2009, 185:903-915.
    • (2009) J Cell Biol , vol.185 , pp. 903-915
    • Nowak, K.J.1    Ravenscroft, G.2    Jackaman, C.3
  • 51
    • 0032811908 scopus 로고    scopus 로고
    • Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
    • Banwell B.L., Russel J., Fukudome T., et al. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 1999, 58:832-846.
    • (1999) J Neuropathol Exp Neurol , vol.58 , pp. 832-846
    • Banwell, B.L.1    Russel, J.2    Fukudome, T.3
  • 52
    • 84929540829 scopus 로고    scopus 로고
    • Intranuclear rods in three Spanish families with ZASPopathy
    • abstract P2.17
    • Olivé M., Odgerel Z., Martinez A., et al. Intranuclear rods in three Spanish families with ZASPopathy. Neuromuscul Disord 2010, 20:623. abstract P2.17.
    • (2010) Neuromuscul Disord , vol.20 , pp. 623
    • Olivé, M.1    Odgerel, Z.2    Martinez, A.3
  • 53
    • 77951974414 scopus 로고    scopus 로고
    • Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)
    • Ottenheijm C.A., Hooijman P., DeChene E.T., et al. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol 2010, 170:334-343.
    • (2010) J Struct Biol , vol.170 , pp. 334-343
    • Ottenheijm, C.A.1    Hooijman, P.2    DeChene, E.T.3
  • 54
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell C.J., Dinwiddie D.L., Miller N.A., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011, 3:65ra4.
    • (2011) Sci Transl Med , vol.3
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 55
    • 0035864823 scopus 로고    scopus 로고
    • A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
    • Corbett M.A., Robinson C.S., Dunglison G.F., et al. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet 2001, 10:317-328.
    • (2001) Hum Mol Genet , vol.10 , pp. 317-328
    • Corbett, M.A.1    Robinson, C.S.2    Dunglison, G.F.3
  • 56
    • 0026611338 scopus 로고
    • Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome I
    • Laing N.G., Majda B.T., Akkari P.A., et al. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet 1992, 50:576-583.
    • (1992) Am J Hum Genet , vol.50 , pp. 576-583
    • Laing, N.G.1    Majda, B.T.2    Akkari, P.A.3
  • 57
    • 33745243854 scopus 로고    scopus 로고
    • Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle
    • Bang M.L., Li X., Littlefield R., et al. Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 2006, 173:905-916.
    • (2006) J Cell Biol , vol.173 , pp. 905-916
    • Bang, M.L.1    Li, X.2    Littlefield, R.3
  • 58
    • 33748058496 scopus 로고    scopus 로고
    • Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo
    • Witt C.C., Burkart C., Labeit D., et al. Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. EMBO J 2006, 25:3843-3855.
    • (2006) EMBO J , vol.25 , pp. 3843-3855
    • Witt, C.C.1    Burkart, C.2    Labeit, D.3
  • 59
    • 0036311912 scopus 로고    scopus 로고
    • Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period
    • Crawford K., Flick R., Close L., et al. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol 2002, 22:5887-5896.
    • (2002) Mol Cell Biol , vol.22 , pp. 5887-5896
    • Crawford, K.1    Flick, R.2    Close, L.3
  • 60
    • 60549114494 scopus 로고    scopus 로고
    • Mouse models for thin filament disease
    • Nguyen M.A., Hardeman E.C. Mouse models for thin filament disease. Adv Exp Med Biol 2008, 642:66-77.
    • (2008) Adv Exp Med Biol , vol.642 , pp. 66-77
    • Nguyen, M.A.1    Hardeman, E.C.2
  • 61
    • 79953663838 scopus 로고    scopus 로고
    • Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
    • Ravenscroft G., Jackaman C., Bringans S., et al. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 2011, 134(Pt 4):1101-1115.
    • (2011) Brain , vol.134 , Issue.PART 4 , pp. 1101-1115
    • Ravenscroft, G.1    Jackaman, C.2    Bringans, S.3
  • 62
    • 70450234989 scopus 로고    scopus 로고
    • Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle
    • Feng H.Z., Wei B., Jin J.P. Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle. J Biol Chem 2009, 284:31798-31806.
    • (2009) J Biol Chem , vol.284 , pp. 31798-31806
    • Feng, H.Z.1    Wei, B.2    Jin, J.P.3
  • 63
    • 77953120203 scopus 로고    scopus 로고
    • Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene
    • Haigh S.E., Salvi S.S., Sevdali M., et al. Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene. Neuromuscul Disord 2010, 20:363-374.
    • (2010) Neuromuscul Disord , vol.20 , pp. 363-374
    • Haigh, S.E.1    Salvi, S.S.2    Sevdali, M.3
  • 64
    • 77954658532 scopus 로고    scopus 로고
    • Molecular treatments in Duchenne muscular dystrophy
    • Guglieri M., Bushby K. Molecular treatments in Duchenne muscular dystrophy. Curr Opin Pharmacol 2010, 10:331-337.
    • (2010) Curr Opin Pharmacol , vol.10 , pp. 331-337
    • Guglieri, M.1    Bushby, K.2
  • 65
    • 44149126988 scopus 로고    scopus 로고
    • Dietary L-tyrosine supplementation in nemaline myopathy
    • Ryan M.M., Sy C., Rudge S., et al. Dietary L-tyrosine supplementation in nemaline myopathy. J Child Neurol 2008, 23:609-613.
    • (2008) J Child Neurol , vol.23 , pp. 609-613
    • Ryan, M.M.1    Sy, C.2    Rudge, S.3
  • 66
    • 4644244947 scopus 로고    scopus 로고
    • Myofiber adaptational response to exercise in a mouse model of nemaline myopathy
    • Nair-Shalliker V., Kee A.J., Joya J.E., et al. Myofiber adaptational response to exercise in a mouse model of nemaline myopathy. Muscle Nerve 2004, 30:470-480.
    • (2004) Muscle Nerve , vol.30 , pp. 470-480
    • Nair-Shalliker, V.1    Kee, A.J.2    Joya, J.E.3
  • 67
    • 8444242913 scopus 로고    scopus 로고
    • Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism
    • Joya J.E., Kee A.J., Nair-Shalliker V., et al. Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism. Hum Mol Genet 2004, 13:2633-2645.
    • (2004) Hum Mol Genet , vol.13 , pp. 2633-2645
    • Joya, J.E.1    Kee, A.J.2    Nair-Shalliker, V.3
  • 68
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali M., Arechavala-Gomeza V., Feng L., et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009, 8:918-928.
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3
  • 69
    • 77956330692 scopus 로고    scopus 로고
    • Preclinical studies for gene therapy of Duchenne muscular dystrophy
    • Odom G.L., Banks G.B., Schultz B.R., et al. Preclinical studies for gene therapy of Duchenne muscular dystrophy. J Child Neurol 2010, 25:1149-1157.
    • (2010) J Child Neurol , vol.25 , pp. 1149-1157
    • Odom, G.L.1    Banks, G.B.2    Schultz, B.R.3
  • 70
    • 77954613481 scopus 로고    scopus 로고
    • Stem cell therapies to treat muscular dystrophy: Progress to date
    • Meregalli M., Farini A., Parolini D., et al. Stem cell therapies to treat muscular dystrophy: Progress to date. BioDrugs 2010, 24:237-247.
    • (2010) BioDrugs , vol.24 , pp. 237-247
    • Meregalli, M.1    Farini, A.2    Parolini, D.3
  • 71
    • 77957725001 scopus 로고    scopus 로고
    • Dystrophin immunity in Duchenne's muscular dystrophy
    • 71
    • Mendell J.R., Campbell K., Rodino-Klapac L., et al. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010, 363:1429-1437. 71.
    • (2010) N Engl J Med , vol.363 , pp. 1429-1437
    • Mendell, J.R.1    Campbell, K.2    Rodino-Klapac, L.3
  • 72
    • 0038725634 scopus 로고    scopus 로고
    • Pharmacological strategies for muscular dystrophy
    • Khurana T.S., Davies K.E. Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov 2003, 2:379-390.
    • (2003) Nat Rev Drug Discov , vol.2 , pp. 379-390
    • Khurana, T.S.1    Davies, K.E.2
  • 73
    • 28244446353 scopus 로고    scopus 로고
    • Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy
    • Ilkovski B., Clement S., Sewry C., et al. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord 2005, 15:829-835.
    • (2005) Neuromuscul Disord , vol.15 , pp. 829-835
    • Ilkovski, B.1    Clement, S.2    Sewry, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.