-
1
-
-
33845977054
-
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
-
PID: 17160903
-
Agrawal PB, Greenleaf RS, Tomczak KK et al (2006) Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80:162–167. doi:10.1086/510402
-
(2006)
Am J Hum Genet
, vol.80
, pp. 162-167
-
-
Agrawal, P.B.1
Greenleaf, R.S.2
Tomczak, K.K.3
-
2
-
-
84860466060
-
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance
-
COI: 1:CAS:528:DC%2BC38Xmt1GgtL0%3D, PID: 22343409
-
Agrawal PB, Joshi M, Savic T et al (2012) Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 21:2341–2356. doi:10.1093/hmg/dds053
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2341-2356
-
-
Agrawal, P.B.1
Joshi, M.2
Savic, T.3
-
3
-
-
3042717143
-
Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations
-
COI: 1:CAS:528:DC%2BD2cXmsVSns78%3D, PID: 15236405
-
Agrawal PB, Strickland CD, Midgett C et al (2004) Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations. Ann Neurol 56:86–96. doi:10.1002/ana.20157
-
(2004)
Ann Neurol
, vol.56
, pp. 86-96
-
-
Agrawal, P.B.1
Strickland, C.D.2
Midgett, C.3
-
4
-
-
33745243854
-
Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle
-
COI: 1:CAS:528:DC%2BD28Xmt1aqsLg%3D, PID: 16769824
-
Bang ML, Li X, Littlefield R et al (2006) Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 173:905–916. doi:10.1083/jcb.200603119
-
(2006)
J Cell Biol
, vol.173
, pp. 905-916
-
-
Bang, M.L.1
Li, X.2
Littlefield, R.3
-
5
-
-
33846847708
-
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes
-
PID: 17227580
-
Bathe FS, Rommelaere H, Machesky LM (2007) Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. BMC Cell Biol 8:2. doi:10.1186/1471-2121-8-2
-
(2007)
BMC Cell Biol
, vol.8
, pp. 2
-
-
Bathe, F.S.1
Rommelaere, H.2
Machesky, L.M.3
-
6
-
-
84879607387
-
503unc, a small and muscle-specific zebrafish promoter
-
COI: 1:CAS:528:DC%2BC3sXhtValtL%2FK, PID: 23444339
-
Berger J, Currie PD (2013) 503unc, a small and muscle-specific zebrafish promoter. Genesis 51:443–447. doi:10.1002/dvg.22385
-
(2013)
Genesis
, vol.51
, pp. 443-447
-
-
Berger, J.1
Currie, P.D.2
-
7
-
-
4344656639
-
Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects
-
COI: 1:CAS:528:DC%2BD2cXms1ensb8%3D, PID: 15226407
-
Costa CF, Rommelaere H, Watershoot D et al (2004) Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects. J Cell Sci 117:3367–3377. doi:10.1242/jcs.01172
-
(2004)
J Cell Sci
, vol.117
, pp. 3367-3377
-
-
Costa, C.F.1
Rommelaere, H.2
Watershoot, D.3
-
8
-
-
37849030911
-
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness
-
COI: 1:CAS:528:DC%2BD1cXhsVCrurs%3D, PID: 17705262
-
Domazetovska A, Ilkovski B, Kumar V et al (2007) Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Ann Neurol 62:597–608. doi:10.1002/ana.21200
-
(2007)
Ann Neurol
, vol.62
, pp. 597-608
-
-
Domazetovska, A.1
Ilkovski, B.2
Kumar, V.3
-
9
-
-
0036133714
-
Mutations in the β-tropomyosin (TPM2) gene—a rare cause of nemaline myopathy
-
Donner K, Ollikainen M, Ridanpää M et al (2001) Mutations in the β-tropomyosin (TPM2) gene—a rare cause of nemaline myopathy. Neuromuscul Disord 12:151–158. doi:10.1016/S0960-8966(01)00252-8
-
(2001)
Neuromuscul Disord
, vol.12
, pp. 151-158
-
-
Donner, K.1
Ollikainen, M.2
Ridanpää, M.3
-
10
-
-
0001698695
-
Rapid examination of muscle tissue, an improved trichome method for fresh-frozen biopsy sections
-
COI: 1:STN:280:DyaF2c%2FjslGqsA%3D%3D, PID: 14079951
-
Engel WK, Cunningham GG (1963) Rapid examination of muscle tissue, an improved trichome method for fresh-frozen biopsy sections. Neurology 13:919–923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunningham, G.G.2
-
11
-
-
84905455015
-
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
-
COI: 1:CAS:528:DC%2BC2cXhtlGkt73E, PID: 24960163
-
Garg A, O’Rourke J, Long C et al (2014) KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest. 124:3529–3539. doi:10.1172/JCI74994
-
(2014)
J Clin Invest.
, vol.124
, pp. 3529-3539
-
-
Garg, A.1
O’Rourke, J.2
Long, C.3
-
12
-
-
0031009273
-
Congenital myopathy with excess of thin myofilaments
-
COI: 1:STN:280:DyaK2szivVKltg%3D%3D, PID: 9185179
-
Goebel HH, Anderson JRJ, Hübner CC et al (1997) Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord 7:160–168. doi:10.1016/S0960-8966(97)00441-0
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 160-168
-
-
Goebel, H.H.1
Anderson, J.R.J.2
Hübner, C.C.3
-
13
-
-
84890264637
-
Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
-
COI: 1:CAS:528:DC%2BC3sXhvVKjurvF, PID: 24268659
-
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ et al (2013) Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet 93:1108–1117. doi:10.1016/j.ajhg.2013.10.020
-
(2013)
Am J Hum Genet
, vol.93
, pp. 1108-1117
-
-
Gupta, V.A.1
Ravenscroft, G.2
Shaheen, R.3
Todd, E.J.4
-
14
-
-
84904460755
-
Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance
-
COI: 1:CAS:528:DC%2BC2cXjsVWksLY%3D, PID: 24598388
-
Gurniak CB, Chevessier F, Jokwitz M et al (2014) Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance. Eur J Cell Biol 93:252–266. doi:10.1016/j.ejcb.2014.01.007
-
(2014)
Eur J Cell Biol
, vol.93
, pp. 252-266
-
-
Gurniak, C.B.1
Chevessier, F.2
Jokwitz, M.3
-
15
-
-
0031573942
-
High-frequency generation of transgenic zebrafish which reliably express GFP in whole muscles or the whole body by using promoters of zebrafish origin
-
Higashijima S-I, Okamoto H, Ueno N et al (1996) High-frequency generation of transgenic zebrafish which reliably express GFP in whole muscles or the whole body by using promoters of zebrafish origin. Dev Biol 192:289–299. doi:10.1006/dbio.1997.8779
-
(1996)
Dev Biol
, vol.192
, pp. 289-299
-
-
Higashijima, S.-I.1
Okamoto, H.2
Ueno, N.3
-
16
-
-
0025075839
-
Atomic model of the actin filament
-
COI: 1:CAS:528:DyaK3cXmtVKqsbs%3D, PID: 2395461
-
Holmes KC, Popp D, Gebhard W, Kabsch W (1990) Atomic model of the actin filament. Nature 347:44–49. doi:10.1038/347044a0
-
(1990)
Nature
, vol.347
, pp. 44-49
-
-
Holmes, K.C.1
Popp, D.2
Gebhard, W.3
Kabsch, W.4
-
17
-
-
31944440024
-
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred
-
Hutchinson DO, Charlton A, Laing NG et al (2006) Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. N Neuromuscul Disord 16:113–121. doi:10.1016/j.nmd.2005.11.004
-
(2006)
N Neuromuscul Disord
, vol.16
, pp. 113-121
-
-
Hutchinson, D.O.1
Charlton, A.2
Laing, N.G.3
-
18
-
-
4444301749
-
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
-
COI: 1:CAS:528:DC%2BD2cXlvFGqsbk%3D, PID: 15198992
-
Ilkovski B, Nowak KJ, Domezetovska A et al (2004) Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet 13:1727–1743. doi:10.1093/hmg/ddh185
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1727-1743
-
-
Ilkovski, B.1
Nowak, K.J.2
Domezetovska, A.3
-
19
-
-
70349904862
-
The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment
-
COI: 1:CAS:528:DC%2BD1MXhtlyjsrnF, PID: 19736328
-
Jacoby AS, Busch-Nentwich E, Bryson-Richardson RJ et al (2009) The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment. Development 136:3367–3376. doi:10.1242/dev.034561
-
(2009)
Development
, vol.136
, pp. 3367-3376
-
-
Jacoby, A.S.1
Busch-Nentwich, E.2
Bryson-Richardson, R.J.3
-
20
-
-
84860783789
-
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
-
COI: 1:STN:280:DC%2BC38vovVWntQ%3D%3D, PID: 22442437
-
Jain RK, Jayawant S, Squier W et al (2012) Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. Neurology 78:1100–1103. doi:10.1212/WNL.0b013e31824e8ebe
-
(2012)
Neurology
, vol.78
, pp. 1100-1103
-
-
Jain, R.K.1
Jayawant, S.2
Squier, W.3
-
21
-
-
0019304558
-
Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods
-
COI: 1:STN:280:DyaL3c3gtFKnsA%3D%3D, PID: 6991264
-
Jockusch BM, Veldman H, Griffiths GW et al (1980) Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. Exp Cell Res 127:409–420. doi:10.1016/0014-4827(80)90445-0
-
(1980)
Exp Cell Res
, vol.127
, pp. 409-420
-
-
Jockusch, B.M.1
Veldman, H.2
Griffiths, G.W.3
-
22
-
-
0033799745
-
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
-
COI: 1:CAS:528:DC%2BD3cXnsVCgs7w%3D, PID: 10952871
-
Johnston JJ, Kelley RI, Crawford TO et al (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814–821. doi:10.1086/303089
-
(2000)
Am J Hum Genet
, vol.67
, pp. 814-821
-
-
Johnston, J.J.1
Kelley, R.I.2
Crawford, T.O.3
-
23
-
-
36448963734
-
The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs
-
COI: 1:CAS:528:DC%2BD2sXhsVGrtbvO, PID: 17937395
-
Kwan KM, Fujimoto E, Grabher C et al (2007) The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs. Dev Dyn 236:3088–3099. doi:10.1002/dvdy.21343
-
(2007)
Dev Dyn
, vol.236
, pp. 3088-3099
-
-
Kwan, K.M.1
Fujimoto, E.2
Grabher, C.3
-
24
-
-
0029317232
-
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
-
COI: 1:CAS:528:DyaK2MXmtFCqtLo%3D, PID: 7663526
-
Laing NG, Wilton SD, Akkari PA et al (1995) A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 10:249. doi:10.1038/ng0695-249
-
(1995)
Nat Genet
, vol.10
, pp. 249
-
-
Laing, N.G.1
Wilton, S.D.2
Akkari, P.A.3
-
25
-
-
69549129388
-
Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)
-
COI: 1:CAS:528:DC%2BD1MXhtFyqtL7E, PID: 19562689
-
Laing NG, Dye DE, Wallgren-Pettersson C et al (2009) Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1). Hum Mutat 30:1267–1277. doi:10.1002/humu.21059
-
(2009)
Hum Mutat
, vol.30
, pp. 1267-1277
-
-
Laing, N.G.1
Dye, D.E.2
Wallgren-Pettersson, C.3
-
26
-
-
61849123795
-
The exon 55 deletion in the nebulin gene—one single founder mutation with world-wide occurrence
-
PID: 19232495
-
Lehtokari VL, Greenleaf RS, DeChene ET et al (2009) The exon 55 deletion in the nebulin gene—one single founder mutation with world-wide occurrence. Neuromuscul Disord 19:179–181. doi:10.1016/j.nmd.2008.12.001
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 179-181
-
-
Lehtokari, V.L.1
Greenleaf, R.S.2
DeChene, E.T.3
-
27
-
-
0015273020
-
The ultrastructure of the adult and developing human myotendinous junction
-
COI: 1:STN:280:DyaE383mslaktA%3D%3D, PID: 5056010
-
Mair WG, Tomé FM (1972) The ultrastructure of the adult and developing human myotendinous junction. Acta Neuropathol 21:239–252
-
(1972)
Acta Neuropathol
, vol.21
, pp. 239-252
-
-
Mair, W.G.1
Tomé, F.M.2
-
28
-
-
84911397019
-
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
-
PID: 24725366
-
Malfatti E, Lehtokari V-L, Böhm J et al (2014) Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun 2:44. doi:10.1016/j.spen.2011.10.006
-
(2014)
Acta Neuropathol Commun
, vol.2
, pp. 44
-
-
Malfatti, E.1
Lehtokari, V.-L.2
Böhm, J.3
-
29
-
-
0023387681
-
Cofilin is a component of intranuclear and cytoplasmic actin rods induced in cultured cells
-
COI: 1:CAS:528:DyaL2sXmtlemtb8%3D, PID: 3474653
-
Nishida E, Iida K, Yonezawa N et al (1987) Cofilin is a component of intranuclear and cytoplasmic actin rods induced in cultured cells. Proc Natl Acad Sci USA 84:5262–5266
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 5262-5266
-
-
Nishida, E.1
Iida, K.2
Yonezawa, N.3
-
30
-
-
16944367068
-
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy
-
COI: 1:STN:280:DyaK2svmt12ksg%3D%3D, PID: 9321754
-
North KN, Laing NG, Wallgren-Pettersson C (1997) Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet 34:705–713
-
(1997)
J Med Genet
, vol.34
, pp. 705-713
-
-
North, K.N.1
Laing, N.G.2
Wallgren-Pettersson, C.3
-
31
-
-
0032858915
-
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
-
COI: 1:CAS:528:DyaK1MXmtlOhtbc%3D, PID: 10508519
-
Nowak KJK, Wattanasirichaigoon DD, Goebel HH et al (1999) Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23:208–212. doi:10.1038/13837
-
(1999)
Nat Genet
, vol.23
, pp. 208-212
-
-
Nowak, K.J.K.1
Wattanasirichaigoon, D.D.2
Goebel, H.H.3
-
32
-
-
33847623295
-
Nemaline myopathy caused by absence of α-skeletal muscle actin
-
COI: 1:CAS:528:DC%2BD2sXjs1yrtbg%3D, PID: 17187373
-
Nowak KJ, Sewry CA, Navarro C et al (2007) Nemaline myopathy caused by absence of α-skeletal muscle actin. Ann Neurol 61:175–184. doi:10.1002/ana.21035
-
(2007)
Ann Neurol
, vol.61
, pp. 175-184
-
-
Nowak, K.J.1
Sewry, C.A.2
Navarro, C.3
-
33
-
-
84929240566
-
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
-
PID: 25182138
-
O’Grady GL, Best HA, Oates EC et al (2014) Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. doi:10.1038/ejhg.2014.169
-
(2014)
Eur J Hum Genet
-
-
O’Grady, G.L.1
Best, H.A.2
Oates, E.C.3
-
34
-
-
84866645945
-
Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness
-
COI: 1:CAS:528:DC%2BC38XhsVWltrfL, PID: 23029319
-
Ochala J, Ravenscroft G, Laing NG, Nowak KJ (2012) Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. PLoS One 7:e45923. doi:10.1371/journal.pone.0045923.t003
-
(2012)
PLoS One
, vol.7
, pp. e45923
-
-
Ochala, J.1
Ravenscroft, G.2
Laing, N.G.3
Nowak, K.J.4
-
35
-
-
84907852051
-
Immuno correlative light and electron microscopy on Tokuyasu cryosections
-
PID: 25287844
-
Oorschot VMJ, Sztal TE, Bryson-Richardson RJ, Ramm G (2014) Immuno correlative light and electron microscopy on Tokuyasu cryosections. Methods Cell Biol 124:241–258. doi:10.1016/B978-0-12-801075-4.00011-2
-
(2014)
Methods Cell Biol
, vol.124
, pp. 241-258
-
-
Oorschot, V.M.J.1
Sztal, T.E.2
Bryson-Richardson, R.J.3
Ramm, G.4
-
36
-
-
84878827240
-
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
-
PID: 23715096
-
Ottenheijm CAC, Buck D, de Winter JM et al (2013) Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain 136:1718–1731. doi:10.1093/brain/awt113
-
(2013)
Brain
, vol.136
, pp. 1718-1731
-
-
Ottenheijm, C.A.C.1
Buck, D.2
de Winter, J.M.3
-
37
-
-
67249115136
-
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
-
COI: 1:CAS:528:DC%2BD1MXnt1ehtrc%3D, PID: 19346529
-
Ottenheijm CAC, Witt CC, Stienen GJ et al (2009) Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet 18:2359–2369. doi:10.1093/hmg/ddp168
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2359-2369
-
-
Ottenheijm, C.A.C.1
Witt, C.C.2
Stienen, G.J.3
-
38
-
-
77954567774
-
New insights into the structural roles of nebulin in skeletal muscle
-
Ottenheijm CAC, Granzier H (2010) New insights into the structural roles of nebulin in skeletal muscle. J Biomed Biotechnol 2010:1–6. doi:10.1091/mbc.E07-07-0690
-
(2010)
J Biomed Biotechnol
, vol.2010
, pp. 1-6
-
-
Ottenheijm, C.A.C.1
Granzier, H.2
-
39
-
-
84939571620
-
-
North KN, Ryan MM (1993) Nemaline myopathy. In Pagon RA, Adam MP, Ardinger HH, et al (editors) GeneReviews. University of Washington, Seattle (WA)
-
North KN, Ryan MM (1993) Nemaline myopathy. In Pagon RA, Adam MP, Ardinger HH, et al (editors) GeneReviews. University of Washington, Seattle (WA)
-
-
-
-
40
-
-
13044312720
-
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
-
COI: 1:CAS:528:DyaK1MXhvVSqt7g%3D, PID: 10051637
-
Pelin KK, Hilpelä PP, Donner KK et al (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 96:2305–2310. doi:10.2307/47056
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2305-2310
-
-
Pelin, K.K.1
Hilpelä, P.P.2
Donner, K.K.3
-
41
-
-
79953663838
-
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
-
PID: 21303860
-
Ravenscroft G, Jackaman C, Bringans S et al (2011) Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 134:1101–1115. doi:10.1093/brain/awr004
-
(2011)
Brain
, vol.134
, pp. 1101-1115
-
-
Ravenscroft, G.1
Jackaman, C.2
Bringans, S.3
-
42
-
-
83055164378
-
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression
-
COI: 1:CAS:528:DC%2BC38XhtFWn, PID: 22174871
-
Ravenscroft G, Jackaman C, Sewry CA et al (2011) Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One 6:e28699. doi:10.1371/journal.pone.0028699.t001
-
(2011)
PLoS One
, vol.6
, pp. e28699
-
-
Ravenscroft, G.1
Jackaman, C.2
Sewry, C.A.3
-
43
-
-
84880316535
-
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
-
COI: 1:CAS:528:DC%2BC3sXptFKqsrs%3D, PID: 23746549
-
Ravenscroft G, Miyatake S, Lehtokari V-L et al (2013) Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 93:6–18. doi:10.1016/j.ajhg.2013.05.004
-
(2013)
Am J Hum Genet
, vol.93
, pp. 6-18
-
-
Ravenscroft, G.1
Miyatake, S.2
Lehtokari, V.-L.3
-
44
-
-
0037465365
-
Clinical course correlates poorly with muscle pathology in nemaline myopathy
-
COI: 1:STN:280:DC%2BD3s%2FovF2gtA%3D%3D, PID: 12601110
-
Ryan MM, Ilkovski B, Strickland CD et al (2003) Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 60:665–673. doi:10.1212/01.WNL.0000046585.81304.BC
-
(2003)
Neurology
, vol.60
, pp. 665-673
-
-
Ryan, M.M.1
Ilkovski, B.2
Strickland, C.D.3
-
45
-
-
84861221950
-
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
-
COI: 1:CAS:528:DC%2BC38Xms1Wrs7c%3D, PID: 22542517
-
Sambuughin N, Swietnicki W, Techtmann S et al (2012) KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem Biophys Res Commun 421:743–749. doi:10.1016/j.bbrc.2012.04.074
-
(2012)
Biochem Biophys Res Commun
, vol.421
, pp. 743-749
-
-
Sambuughin, N.1
Swietnicki, W.2
Techtmann, S.3
-
46
-
-
0034906020
-
Clinical and genetic heterogeneity in nemaline myopathy—a disease of skeletal muscle thin filaments
-
COI: 1:CAS:528:DC%2BD3MXmtFaksL4%3D, PID: 11516997
-
Sanoudou D, Beggs AH (2001) Clinical and genetic heterogeneity in nemaline myopathy—a disease of skeletal muscle thin filaments. Trends Mol Med 7:362–368. doi:10.1016/S1471-4914(01)02089-5
-
(2001)
Trends Mol Med
, vol.7
, pp. 362-368
-
-
Sanoudou, D.1
Beggs, A.H.2
-
47
-
-
84862520770
-
Fiji: an open-source platform for biological-image analysis
-
COI: 1:CAS:528:DC%2BC38XhtVKnurbJ, PID: 22743772
-
Schindelin J, Arganda-Carreras I, Frise E et al (2012) Fiji: an open-source platform for biological-image analysis. Nat Methods 9:676–682. doi:10.1038/nmeth.2019
-
(2012)
Nat Methods
, vol.9
, pp. 676-682
-
-
Schindelin, J.1
Arganda-Carreras, I.2
Frise, E.3
-
48
-
-
84860724365
-
neb: a zebrafish model of nemaline myopathy due to nebulin mutation
-
COI: 1:CAS:528:DC%2BC38XnsVSlu7g%3D, PID: 22159874
-
Telfer WR, Nelson DD, Waugh T et al (2012) neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Dis Model Mech 5:389–396. doi:10.1242/dmm.008631
-
(2012)
Dis Model Mech
, vol.5
, pp. 389-396
-
-
Telfer, W.R.1
Nelson, D.D.2
Waugh, T.3
-
49
-
-
67649394146
-
α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells
-
COI: 1:CAS:528:DC%2BD1MXnsFyit78%3D, PID: 19393268
-
Vandamme D, Lambert E, Waterschoot D et al (2009) α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells. Biochim Biophys Acta 1793:1259–1271. doi:10.1016/j.bbamcr.2009.04.004
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 1259-1271
-
-
Vandamme, D.1
Lambert, E.2
Waterschoot, D.3
-
50
-
-
77951877731
-
In vitro analysis of rod composition and actin dynamics in inherited myopathies
-
COI: 1:CAS:528:DC%2BC3cXlsVOqur4%3D, PID: 20418783
-
Vandebrouck A, Domazetovska A, Mokbel N et al (2010) In vitro analysis of rod composition and actin dynamics in inherited myopathies. J Neuropathol Exp Neurol 69:429–441. doi:10.1097/NEN.0b013e3181d892c6
-
(2010)
J Neuropathol Exp Neurol
, vol.69
, pp. 429-441
-
-
Vandebrouck, A.1
Domazetovska, A.2
Mokbel, N.3
-
51
-
-
53849089575
-
High data output and automated 3D correlative light-electron microscopy method
-
COI: 1:CAS:528:DC%2BD1cXhtlOjsLrL, PID: 18817522
-
Vicidomini G, Gagliani MC, Canfora M et al (2008) High data output and automated 3D correlative light-electron microscopy method. Traffic 9:1828–1838. doi:10.1111/j.1600-0854.2008.00815.x
-
(2008)
Traffic
, vol.9
, pp. 1828-1838
-
-
Vicidomini, G.1
Gagliani, M.C.2
Canfora, M.3
-
52
-
-
0030273670
-
40th ENMC sponsored international workshop: nemaline myopathy. 2–4 February 1996, Naarden, The Netherlands
-
COI: 1:STN:280:DyaK2s%2FptlWnsA%3D%3D, PID: 8938704
-
Wallgren-Pettersson C, Laing N (1996) 40th ENMC sponsored international workshop: nemaline myopathy. 2–4 February 1996, Naarden, The Netherlands. Neuromuscul Disord 6:389–391. doi:10.1016/0960-8966(96)00354-9
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 389-391
-
-
Wallgren-Pettersson, C.1
Laing, N.2
-
53
-
-
0028926723
-
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy
-
Wallgren-Pettersson C, Jasani B, Newman GR et al (1994) Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord 5:93–104. doi:10.1016/0960-8966(94)00035-8
-
(1994)
Neuromuscul Disord
, vol.5
, pp. 93-104
-
-
Wallgren-Pettersson, C.1
Jasani, B.2
Newman, G.R.3
-
54
-
-
0034213947
-
Report of the 70th ENMC international workshop: nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
-
Wallgren-Pettersson C, Laing NG (1999) Report of the 70th ENMC international workshop: nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 10:299–306. doi:10.1016/S0960-8966(99)00129-7
-
(1999)
Neuromuscul Disord
, vol.10
, pp. 299-306
-
-
Wallgren-Pettersson, C.1
Laing, N.G.2
-
55
-
-
18044365204
-
Dynamics of Z-band based proteins in developing skeletal muscle cells
-
COI: 1:CAS:528:DC%2BD2MXkslGgsrg%3D, PID: 15810059
-
Wang J, Shaner N, Mittal B et al (2005) Dynamics of Z-band based proteins in developing skeletal muscle cells. Cell Motil Cytoskeleton 61:34–48. doi:10.1002/cm.20063
-
(2005)
Cell Motil Cytoskeleton
, vol.61
, pp. 34-48
-
-
Wang, J.1
Shaner, N.2
Mittal, B.3
-
57
-
-
0019924573
-
Nemaline myopathy rod bodies. Structure and composition
-
COI: 1:STN:280:DyaL3s%2FlvVyhsA%3D%3D, PID: 6754876
-
Yamaguchi M, Robson RM, Stromer MH et al (1982) Nemaline myopathy rod bodies. Structure and composition. J Neurol Sci 56:35–56. doi:10.1016/0022-510X(82)90059-4
-
(1982)
J Neurol Sci
, vol.56
, pp. 35-56
-
-
Yamaguchi, M.1
Robson, R.M.2
Stromer, M.H.3
-
58
-
-
84908627806
-
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
-
COI: 1:CAS:528:DC%2BC2cXhvFSntr7I, PID: 25250574
-
Yuen M, Sandaradura SA, Dowling JJ et al (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 124:4693–4708. doi:10.1172/JCI75199
-
(2014)
J Clin Invest
, vol.124
, pp. 4693-4708
-
-
Yuen, M.1
Sandaradura, S.A.2
Dowling, J.J.3
|