-
1
-
-
0033784812
-
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
-
Anderson L.V., Harrison R.M., Pogue R., et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000, 10:553-559.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 553-559
-
-
Anderson, L.V.1
Harrison, R.M.2
Pogue, R.3
-
2
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
Bansal D., Miyake K., Vogel S.S., et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003, 423:168-172.
-
(2003)
Nature
, vol.423
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
-
3
-
-
17344363640
-
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
Bashir R., Britton S., Strachan T. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998, 20:37-42.
-
(1998)
Nat Genet
, vol.20
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
-
4
-
-
0016787935
-
Experimental autoimmune encephalomyelitis in mice: immunologic response to mouse spinal cord and myelin basic proteins
-
Bernard C.C., Carnegie P.R. Experimental autoimmune encephalomyelitis in mice: immunologic response to mouse spinal cord and myelin basic proteins. J Immunol 1975, 114:1537-1540.
-
(1975)
J Immunol
, vol.114
, pp. 1537-1540
-
-
Bernard, C.C.1
Carnegie, P.R.2
-
5
-
-
0032850960
-
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
-
Bittner R.E., Anderson L.V., Burkhardt E., et al. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet 1999, 23:141-142.
-
(1999)
Nat Genet
, vol.23
, pp. 141-142
-
-
Bittner, R.E.1
Anderson, L.V.2
Burkhardt, E.3
-
6
-
-
27644489015
-
Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations
-
Brummer D., Walter M.C., Palmbach M., et al. Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005, 24:6-16.
-
(2005)
Acta Myol
, vol.24
, pp. 6-16
-
-
Brummer, D.1
Walter, M.C.2
Palmbach, M.3
-
7
-
-
33746701373
-
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
-
Cagliani R., Magri F., Toscano A., et al. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat 2005, 26:283.
-
(2005)
Hum Mutat
, vol.26
, pp. 283
-
-
Cagliani, R.1
Magri, F.2
Toscano, A.3
-
8
-
-
13244284886
-
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
-
Cenacchi G., Fanin M., De Giorgi L.B., et al. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol 2005, 58:190-195.
-
(2005)
J Clin Pathol
, vol.58
, pp. 190-195
-
-
Cenacchi, G.1
Fanin, M.2
De Giorgi, L.B.3
-
9
-
-
4444324529
-
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
-
Chrobakova T., Hermanova M., Kroupova I., et al. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord 2004, 14:659-665.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 659-665
-
-
Chrobakova, T.1
Hermanova, M.2
Kroupova, I.3
-
10
-
-
33847046276
-
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF
-
Diers A., Carl M., Stoltenburg-Didinger G., et al. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul Disord 2007, 17:157-162.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 157-162
-
-
Diers, A.1
Carl, M.2
Stoltenburg-Didinger, G.3
-
11
-
-
0035853009
-
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
-
Fanin M., Pegoraro E., Matsuda-Asada C., et al. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001, 56:660-665.
-
(2001)
Neurology
, vol.56
, pp. 660-665
-
-
Fanin, M.1
Pegoraro, E.2
Matsuda-Asada, C.3
-
12
-
-
20044372006
-
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
-
Fischer D., Walter M.C., Kesper K., et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005, 252:538-547.
-
(2005)
J Neurol
, vol.252
, pp. 538-547
-
-
Fischer, D.1
Walter, M.C.2
Kesper, K.3
-
13
-
-
0035846620
-
Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients
-
Gallardo E., Rojas-Garcia R., de Luna N., et al. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136-2138.
-
(2001)
Neurology
, vol.57
, pp. 2136-2138
-
-
Gallardo, E.1
Rojas-Garcia, R.2
de Luna, N.3
-
14
-
-
34250838745
-
Dysferlin in membrane trafficking and patch repair
-
Glover L., Brown R.H. Dysferlin in membrane trafficking and patch repair. Traffic 2007, 8:785-794.
-
(2007)
Traffic
, vol.8
, pp. 785-794
-
-
Glover, L.1
Brown, R.H.2
-
15
-
-
33644502934
-
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
-
Hermanová M., Zapletalová E., Sedlácková J., et al. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. Muscle Nerve 2006, 33:424-432.
-
(2006)
Muscle Nerve
, vol.33
, pp. 424-432
-
-
Hermanová, M.1
Zapletalová, E.2
Sedlácková, J.3
-
16
-
-
29644441031
-
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3
-
Hernandez-Deviez D.J., Martin S., Laval S.H., et al. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet 2006, 15:129-142.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 129-142
-
-
Hernandez-Deviez, D.J.1
Martin, S.2
Laval, S.H.3
-
17
-
-
0036135804
-
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
-
Ho M., Gallardo E., McKenna-Yasek D., et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 2002, 51:129-133.
-
(2002)
Ann Neurol
, vol.51
, pp. 129-133
-
-
Ho, M.1
Gallardo, E.2
McKenna-Yasek, D.3
-
18
-
-
5744230326
-
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
-
Ho M., Post C.M., Donahue L.R., et al. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 2004, 13:1999-2010.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1999-2010
-
-
Ho, M.1
Post, C.M.2
Donahue, L.R.3
-
19
-
-
33847406320
-
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
-
Huang Y., Laval S.H., van Remoortere A., et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 2007, 21:732-742.
-
(2007)
FASEB J
, vol.21
, pp. 732-742
-
-
Huang, Y.1
Laval, S.H.2
van Remoortere, A.3
-
20
-
-
0035109410
-
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
-
Illa I., Serrano-Munuera C., Gallardo E., et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001, 49:130-134.
-
(2001)
Ann Neurol
, vol.49
, pp. 130-134
-
-
Illa, I.1
Serrano-Munuera, C.2
Gallardo, E.3
-
21
-
-
34247226211
-
Symptomatic dysferlin gene mutation carriers: characterization of two cases
-
Illa I., De Luna N., Dominguez-Perles R., et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 2007, 68:1284-1289.
-
(2007)
Neurology
, vol.68
, pp. 1284-1289
-
-
Illa, I.1
De Luna, N.2
Dominguez-Perles, R.3
-
22
-
-
12644258539
-
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
-
Illarioshkin S.N., Ivanova-Smolenskaya I.A., Tanaka H. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 1996, 119:1895-1909.
-
(1996)
Brain
, vol.119
, pp. 1895-1909
-
-
Illarioshkin, S.N.1
Ivanova-Smolenskaya, I.A.2
Tanaka, H.3
-
23
-
-
0034719093
-
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
-
Illarioshkin S.N., Ivanova-Smolenskaya I.A., Greenberg C.R., et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000, 55:1931-1933.
-
(2000)
Neurology
, vol.55
, pp. 1931-1933
-
-
Illarioshkin, S.N.1
Ivanova-Smolenskaya, I.A.2
Greenberg, C.R.3
-
24
-
-
0141480897
-
Late-onset distal muscular dystrophy affecting the posterior calves
-
Katz J.S., Rando T.A., Barohn R.J., et al. Late-onset distal muscular dystrophy affecting the posterior calves. Muscle Nerve 2003, 28:443-448.
-
(2003)
Muscle Nerve
, vol.28
, pp. 443-448
-
-
Katz, J.S.1
Rando, T.A.2
Barohn, R.J.3
-
25
-
-
34249806027
-
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
-
Klinge L., Laval S., Keers S., et al. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 2007, 21:1768-1776.
-
(2007)
FASEB J
, vol.21
, pp. 1768-1776
-
-
Klinge, L.1
Laval, S.2
Keers, S.3
-
26
-
-
42649088396
-
Late onset in dysferlinopathy widens the clinical spectrum
-
Klinge L., Dean A.F., Kress W., et al. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 2008, 18:288-290.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 288-290
-
-
Klinge, L.1
Dean, A.F.2
Kress, W.3
-
27
-
-
0347379869
-
Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
-
Lennon N.J., Kho A., Bacskai B.J., et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003, 278:50466-50473.
-
(2003)
J Biol Chem
, vol.278
, pp. 50466-50473
-
-
Lennon, N.J.1
Kho, A.2
Bacskai, B.J.3
-
28
-
-
0030730609
-
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
-
Linssen W.H., Notermans N.C., Van der Graaf Y., et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 1997, 120:1989-1996.
-
(1997)
Brain
, vol.120
, pp. 1989-1996
-
-
Linssen, W.H.1
Notermans, N.C.2
Van der Graaf, Y.3
-
29
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J., Aoki M., Illa I., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998, 20:31-36.
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
-
30
-
-
0034709195
-
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
-
McNally E.M., Ly C.T., Rosenmann H., et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 2000, 91:305-312.
-
(2000)
Am J Med Genet
, vol.91
, pp. 305-312
-
-
McNally, E.M.1
Ly, C.T.2
Rosenmann, H.3
-
31
-
-
33845951914
-
Requirement for annexin A1 in plasma membrane repair
-
McNeil A.K., Rescher U., Gerke V., et al. Requirement for annexin A1 in plasma membrane repair. J Biol Chem 2006, 281:35202-35207.
-
(2006)
J Biol Chem
, vol.281
, pp. 35202-35207
-
-
McNeil, A.K.1
Rescher, U.2
Gerke, V.3
-
32
-
-
0035025267
-
Coping with the inevitable: how cells repair a torn surface membrane
-
McNeil P.L., Terasaki M. Coping with the inevitable: how cells repair a torn surface membrane. Nat Cell Biol 2001, 3:E124-E129.
-
(2001)
Nat Cell Biol
, vol.3
-
-
McNeil, P.L.1
Terasaki, M.2
-
33
-
-
0030477874
-
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
-
Mahjneh I., Passos-Bueno M.R., Zatz M. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromuscul Disord 1996, 6:483-490.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 483-490
-
-
Mahjneh, I.1
Passos-Bueno, M.R.2
Zatz, M.3
-
34
-
-
0035144864
-
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
-
Mahjneh I., Marconi G., Bushby K., et al. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 2001, 11:20-26.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 20-26
-
-
Mahjneh, I.1
Marconi, G.2
Bushby, K.3
-
35
-
-
16844373171
-
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma
-
Matsuda C., Kameyama K., Tagawa K., et al. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol 2005, 64:334-340.
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 334-340
-
-
Matsuda, C.1
Kameyama, K.2
Tagawa, K.3
-
37
-
-
10844287196
-
Dysferlinopathy associated with rigid spine syndrome
-
Nagashima T., Chuma T., Mano Y., et al. Dysferlinopathy associated with rigid spine syndrome. Neuropathology 2004, 24:341-346.
-
(2004)
Neuropathology
, vol.24
, pp. 341-346
-
-
Nagashima, T.1
Chuma, T.2
Mano, Y.3
-
38
-
-
0035864832
-
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene
-
Nakagawa M., Matsuzaki T., Suehara M., et al. Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J Neurol Sci 2001, 184:15-19.
-
(2001)
J Neurol Sci
, vol.184
, pp. 15-19
-
-
Nakagawa, M.1
Matsuzaki, T.2
Suehara, M.3
-
39
-
-
0030467967
-
The C2 domain calcium-binding motif: structural and functional diversity
-
Nalefski E.A., Falke J.J. The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci 1996, 5:2375-2390.
-
(1996)
Protein Sci
, vol.5
, pp. 2375-2390
-
-
Nalefski, E.A.1
Falke, J.J.2
-
40
-
-
34547882325
-
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes
-
Nguyen K., Bassez G., Krahn M., et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007, 64:1176-1182.
-
(2007)
Arch Neurol
, vol.64
, pp. 1176-1182
-
-
Nguyen, K.1
Bassez, G.2
Krahn, M.3
-
42
-
-
77955159118
-
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
-
Paradas C., Llauger J., Diaz-Manera J., et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010, 75:316-323.
-
(2010)
Neurology
, vol.75
, pp. 316-323
-
-
Paradas, C.1
Llauger, J.2
Diaz-Manera, J.3
-
43
-
-
0030222108
-
Caveolae and caveolins
-
Parton R.G. Caveolae and caveolins. Curr Opin Cell Biol 1996, 8:542-548.
-
(1996)
Curr Opin Cell Biol
, vol.8
, pp. 542-548
-
-
Parton, R.G.1
-
44
-
-
0031030664
-
Caveolin-3 associates with developing T-tubules during muscle differentiation
-
Parton R.G., Way M., Zorzi N. Caveolin-3 associates with developing T-tubules during muscle differentiation. J Cell Biol 1997, 136:137-154.
-
(1997)
J Cell Biol
, vol.136
, pp. 137-154
-
-
Parton, R.G.1
Way, M.2
Zorzi, N.3
-
45
-
-
0033673056
-
Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
-
Piccolo F., Moore S.A., Ford G.C., et al. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000, 48:902-912.
-
(2000)
Ann Neurol
, vol.48
, pp. 902-912
-
-
Piccolo, F.1
Moore, S.A.2
Ford, G.C.3
-
46
-
-
0038142687
-
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency
-
Prelle A., Sciacco M., Tancredi L., et al. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol 2003, 105:537-542.
-
(2003)
Acta Neuropathol
, vol.105
, pp. 537-542
-
-
Prelle, A.1
Sciacco, M.2
Tancredi, L.3
-
47
-
-
0028324464
-
Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins
-
Raynal P., Pollard H.B. Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins. Biochim Biophys Acta 1994, 1197:63-93.
-
(1994)
Biochim Biophys Acta
, vol.1197
, pp. 63-93
-
-
Raynal, P.1
Pollard, H.B.2
-
49
-
-
0032884692
-
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy
-
Rowin J., Meriggioli M.N., Cochran E.J., et al. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord 1999, 9:417-420.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 417-420
-
-
Rowin, J.1
Meriggioli, M.N.2
Cochran, E.J.3
-
50
-
-
0035849492
-
The earliest pathologic alterations in dysferlinopathy
-
Selcen D., Stilling G., Engel A.G. The earliest pathologic alterations in dysferlinopathy. Neurology 2001, 56:1472-1481.
-
(2001)
Neurology
, vol.56
, pp. 1472-1481
-
-
Selcen, D.1
Stilling, G.2
Engel, A.G.3
-
51
-
-
39749105590
-
Complete fatty degeneration of the lumbar erector spinae muscles caused by a primary dysferlinopathy
-
Seror P., Krahn M., Laforet P., et al. Complete fatty degeneration of the lumbar erector spinae muscles caused by a primary dysferlinopathy. Muscle Nerve 2008, 37:410-414.
-
(2008)
Muscle Nerve
, vol.37
, pp. 410-414
-
-
Seror, P.1
Krahn, M.2
Laforet, P.3
-
52
-
-
0031765341
-
Role of plasmalemmal caveolae in signal transduction
-
Shaul P.W., Anderson R.G. Role of plasmalemmal caveolae in signal transduction. Am J Physiol 1998, 275:L843-L851.
-
(1998)
Am J Physiol
, vol.275
-
-
Shaul, P.W.1
Anderson, R.G.2
-
53
-
-
41849086671
-
Dysferlin-deficient muscular dystrophy features amyloidosis
-
Spuler S., Zabojszcza J., Straub V., et al. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 2008, 63:323-328.
-
(2008)
Ann Neurol
, vol.63
, pp. 323-328
-
-
Spuler, S.1
Zabojszcza, J.2
Straub, V.3
-
54
-
-
2442589924
-
Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy
-
Suzuki N., Aoki M., Takahashi T. Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. Muscle Nerve 2004, 29:721-723.
-
(2004)
Muscle Nerve
, vol.29
, pp. 721-723
-
-
Suzuki, N.1
Aoki, M.2
Takahashi, T.3
-
55
-
-
23844433967
-
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population
-
Vilchez J.J., Gallano P., Gallardo E., et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 2005, 62:1256-1259.
-
(2005)
Arch Neurol
, vol.62
, pp. 1256-1259
-
-
Vilchez, J.J.1
Gallano, P.2
Gallardo, E.3
-
56
-
-
0032897762
-
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
-
Weiler T., Bashir R., Anderson L.V., et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999, 8:871-877.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 871-877
-
-
Weiler, T.1
Bashir, R.2
Anderson, L.V.3
-
57
-
-
2542468783
-
Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction
-
Yamaji S., Suzuki A., Kanamori H., et al. Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction. J Cell Biol 2004, 165:539-551.
-
(2004)
J Cell Biol
, vol.165
, pp. 539-551
-
-
Yamaji, S.1
Suzuki, A.2
Kanamori, H.3
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