-
1
-
-
0037160782
-
The muscular dystrophies
-
Emery AE (2002) The muscular dystrophies. Lancet 359(9307):687-695.
-
(2002)
Lancet
, vol.359
, Issue.9307
, pp. 687-695
-
-
Emery, A.E.1
-
2
-
-
79954551143
-
Overview of the muscular dystrophies
-
Amato AA, Griggs RC (2011) Overview of the muscular dystrophies. Handb Clin Neurol 101:1-9.
-
(2011)
Handb Clin Neurol
, vol.101
, pp. 1-9
-
-
Amato, A.A.1
Griggs, R.C.2
-
4
-
-
77957668775
-
Sarcoglycanopathies: Molecular pathogenesis and therapeutic prospects
-
Sandonà D, Betto R (2009) Sarcoglycanopathies: Molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 11:e28.
-
(2009)
Expert Rev Mol Med
, vol.11
-
-
Sandonà, D.1
Betto, R.2
-
5
-
-
16944365227
-
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
-
Carrié A, et al. (1997)Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 34(6):470-475.
-
(1997)
J Med Genet
, vol.34
, Issue.6
, pp. 470-475
-
-
Carrié, A.1
-
6
-
-
0028971219
-
β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bönnemann CG, et al. (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11(3):266-273.
-
(1995)
Nat Genet
, vol.11
, Issue.3
, pp. 266-273
-
-
Bönnemann, C.G.1
-
7
-
-
0028883973
-
Mutations in the dystrophin-associated protein gammasarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, et al. (1995) Mutations in the dystrophin-associated protein gammasarcoglycan in chromosome 13 muscular dystrophy. Science 270(5237):819-822.
-
(1995)
Science
, vol.270
, Issue.5237
, pp. 819-822
-
-
Noguchi, S.1
-
8
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
Nigro V, et al. (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 14(2):195-198.
-
(1996)
Nat Genet
, vol.14
, Issue.2
, pp. 195-198
-
-
Nigro, V.1
-
9
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21(3):285-288.
-
(1999)
Nat Genet
, vol.21
, Issue.3
, pp. 285-288
-
-
Bonne, G.1
-
10
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, et al. (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12(3):254-259.
-
(1996)
Nat Genet
, vol.12
, Issue.3
, pp. 254-259
-
-
Nagano, A.1
-
11
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
-
Hoffman EP, et al. (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl JMed 318(21):1363-1368.
-
(1988)
N Engl JMed
, vol.318
, Issue.21
, pp. 1363-1368
-
-
Hoffman, E.P.1
-
12
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH, Jr., Kunkel LM (1987) Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 51(6):919-928.
-
(1987)
Cell
, vol.51
, Issue.6
, pp. 919-928
-
-
Hoffman, E.P.1
Brown Jr., R.H.2
Kunkel, L.M.3
-
13
-
-
0024300196
-
Immunoelectron microscopic localization of dystrophin in myofibres
-
Watkins SC, Hoffman EP, Slayter HS, Kunkel LM (1988) Immunoelectron microscopic localization of dystrophin in myofibres. Nature 333(6176):863-866.
-
(1988)
Nature
, vol.333
, Issue.6176
, pp. 863-866
-
-
Watkins, S.C.1
Hoffman, E.P.2
Slayter, H.S.3
Kunkel, L.M.4
-
14
-
-
0036179479
-
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
-
Frosk P, et al. (2002) Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 70(3):663-672.
-
(2002)
Am J Hum Genet
, vol.70
, Issue.3
, pp. 663-672
-
-
Frosk, P.1
-
16
-
-
33646562887
-
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
-
Chiang AP, et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 103(16):6287-6292.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, Issue.16
, pp. 6287-6292
-
-
Chiang, A.P.1
-
17
-
-
27644438336
-
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin
-
Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ (2005) Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. J Mol Biol 354(2):413-424.
-
(2005)
J Mol Biol
, vol.354
, Issue.2
, pp. 413-424
-
-
Kudryashova, E.1
Kudryashov, D.2
Kramerova, I.3
Spencer, M.J.4
-
18
-
-
63149150621
-
Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component
-
Kudryashova E, Wu J, Havton LA, Spencer MJ (2009) Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component. Hum Mol Genet 18(7):1353-1367.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.7
, pp. 1353-1367
-
-
Kudryashova, E.1
Wu, J.2
Havton, L.A.3
Spencer, M.J.4
-
19
-
-
80053149975
-
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype
-
Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ (2011) The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. Hum Mol Genet 20(20):3925-3932.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.20
, pp. 3925-3932
-
-
Kudryashova, E.1
Struyk, A.2
Mokhonova, E.3
Cannon, S.C.4
Spencer, M.J.5
-
20
-
-
33646768641
-
A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1
-
Chartier A, Benoit B, Simonelig M (2006) A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. EMBO J 25(10):2253-2262.
-
(2006)
EMBO J
, vol.25
, Issue.10
, pp. 2253-2262
-
-
Chartier, A.1
Benoit, B.2
Simonelig, M.3
-
21
-
-
0034704752
-
A Drosophila model of Parkinson's disease
-
Feany MB, Bender WW (2000) A Drosophila model of Parkinson's disease. Nature 404 (6776):394-398.
-
(2000)
Nature
, vol.404
, Issue.6776
, pp. 394-398
-
-
Feany, M.B.1
Bender, W.W.2
-
22
-
-
15044339964
-
Intraneuronal Abeta, non-amyloid aggregates and neurodegeneration in a Drosophila model of Alzheimer's disease
-
Crowther DC, et al. (2005) Intraneuronal Abeta, non-amyloid aggregates and neurodegeneration in a Drosophila model of Alzheimer's disease. Neuroscience 132(1): 123-135.
-
(2005)
Neuroscience
, vol.132
, Issue.1
, pp. 123-135
-
-
Crowther, D.C.1
-
23
-
-
0022388929
-
A mutation affecting larval muscle development in Drosophila melanogaster
-
Ball E, Ball S, Sparrow J (1985) A mutation affecting larval muscle development in Drosophila melanogaster. Dev Genet 6:77-92.
-
(1985)
Dev Genet
, vol.6
, pp. 77-92
-
-
Ball, E.1
Ball, S.2
Sparrow, J.3
-
24
-
-
31544475124
-
Minos as a genetic and genomic tool in Drosophila melanogaster
-
Metaxakis A, Oehler S, Klinakis A, Savakis C (2005) Minos as a genetic and genomic tool in Drosophila melanogaster. Genetics 171(2):571-581.
-
(2005)
Genetics
, vol.171
, Issue.2
, pp. 571-581
-
-
Metaxakis, A.1
Oehler, S.2
Klinakis, A.3
Savakis, C.4
-
25
-
-
34347328247
-
The Drosophila muscle LIM protein, Mlp84B, cooperates with D-titin to maintain muscle structural integrity
-
Clark KA, Bland JM, Beckerle MC (2007) The Drosophila muscle LIM protein, Mlp84B, cooperates with D-titin to maintain muscle structural integrity. J Cell Sci 120(Pt 12): 2066-2077.
-
(2007)
J Cell Sci
, vol.120
, Issue.PART 12
, pp. 2066-2077
-
-
Clark, K.A.1
Bland, J.M.2
Beckerle, M.C.3
-
26
-
-
79952271221
-
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance
-
Ribeiro I, Yuan L, Tanentzapf G, Dowling JJ, Kiger A (2011) Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS Genet 7(2):e1001295.
-
(2011)
PLoS Genet
, vol.7
, Issue.2
-
-
Ribeiro, I.1
Yuan, L.2
Tanentzapf, G.3
Dowling, J.J.4
Kiger, A.5
-
27
-
-
62849125813
-
The initial steps of myofibril assembly: Integrins pave the way
-
Sparrow JC, Schöck F (2009) The initial steps of myofibril assembly: Integrins pave the way. Nat Rev Mol Cell Biol 10(4):293-298.
-
(2009)
Nat Rev Mol Cell Biol
, vol.10
, Issue.4
, pp. 293-298
-
-
Sparrow, J.C.1
Schöck, F.2
-
28
-
-
0038190993
-
Costameres: The Achilles' heel of Herculean muscle
-
Ervasti JM (2003) Costameres: The Achilles' heel of Herculean muscle. J Biol Chem 278 (16):13591-13594.
-
(2003)
J Biol Chem
, vol.278
, Issue.16
, pp. 13591-13594
-
-
Ervasti, J.M.1
-
29
-
-
17744371839
-
The tripartite motif family identifies cell compartments
-
Reymond A, et al. (2001) The tripartite motif family identifies cell compartments. EMBO J 20(9):2140-2151.
-
(2001)
EMBO J
, vol.20
, Issue.9
, pp. 2140-2151
-
-
Reymond, A.1
-
30
-
-
84860547297
-
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H
-
Kudryashova E, Kramerova I, Spencer MJ (2012) Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. J Clin Invest 122 (5):1764-1776.
-
(2012)
J Clin Invest
, vol.122
, Issue.5
, pp. 1764-1776
-
-
Kudryashova, E.1
Kramerova, I.2
Spencer, M.J.3
-
31
-
-
84863050417
-
TRIM32 regulates skeletal muscle stem cell differentiation and is necessary for normal adult muscle regeneration
-
Nicklas S, et al. (2012) TRIM32 regulates skeletal muscle stem cell differentiation and is necessary for normal adult muscle regeneration. PLoS ONE 7(1):e30445.
-
(2012)
PLoS ONE
, vol.7
, Issue.1
-
-
Nicklas, S.1
-
32
-
-
30444452500
-
TRIM/RBCC, a novel class of 'single protein RING finger' E3 ubiquitin ligases
-
Meroni G, Diez-Roux G (2005) TRIM/RBCC, a novel class of 'single protein RING finger' E3 ubiquitin ligases. Bioessays 11:1147-1157.
-
(2005)
Bioessays
, vol.11
, pp. 1147-1157
-
-
Meroni, G.1
Diez-Roux, G.2
-
33
-
-
67249131486
-
TRIM32 is an E3 ubiquitin ligase for dysbindin
-
Locke M, Tinsley CL, Benson MA, Blake DJ (2009) TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet 18(13):2344-2358.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.13
, pp. 2344-2358
-
-
Locke, M.1
Tinsley, C.L.2
Benson, M.A.3
Blake, D.J.4
-
34
-
-
38949158549
-
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H
-
Saccone V, et al. (2008) Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat 29(2):240-247.
-
(2008)
Hum Mutat
, vol.29
, Issue.2
, pp. 240-247
-
-
Saccone, V.1
|