-
1
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-6.
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
Fardeau, M.5
Angelini, C.6
Serrano, C.7
Urtizberea, J.A.8
Hentati, F.9
Hamida, M.B.10
Bohlega, S.11
Culper, E.J.12
Amato, A.A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.A.18
Schurr, E.19
Arahata, K.20
de Jong, P.J.21
Brown Jr., R.H.22
more..
-
2
-
-
1842556210
-
Dysferlin and the plasma membrane repair in muscular dystrophy
-
Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol 2004; 14: 206-13.
-
(2004)
Trends Cell Biol
, vol.14
, pp. 206-213
-
-
Bansal, D.1
Campbell, K.P.2
-
3
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003; 423: 168-72.
-
(2003)
Nature
, vol.423
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
Groh, S.4
Chen, C.C.5
Williamson, R.6
McNeil, P.L.7
Campbell, K.P.8
-
4
-
-
84862176451
-
Muscle membrane repair and inflammatory attack in dysferlinopathy
-
Han R. Muscle membrane repair and inflammatory attack in dysferlinopathy. Skeletal Muscle 2011; 1: 10.
-
(2011)
Skeletal Muscle
, vol.1
, pp. 10
-
-
Han, R.1
-
5
-
-
34249806027
-
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
-
Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, Bushby K. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 2007; 21: 1768-76.
-
(2007)
FASEB J
, vol.21
, pp. 1768-1776
-
-
Klinge, L.1
Laval, S.2
Keers, S.3
Haldane, F.4
Straub, V.5
Barresi, R.6
Bushby, K.7
-
6
-
-
0035109410
-
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
-
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001; 49: 130-4.
-
(2001)
Ann Neurol
, vol.49
, pp. 130-134
-
-
Illa, I.1
Serrano-Munuera, C.2
Gallardo, E.3
Lasa, A.4
Rojas-Garcia, R.5
Palmer, J.6
Gallano, P.7
Baiget, M.8
Matsuda, C.9
Brown, R.H.10
-
7
-
-
34547882325
-
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes
-
Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007; 64: 1176-82.
-
(2007)
Arch Neurol
, vol.64
, pp. 1176-1182
-
-
Nguyen, K.1
Bassez, G.2
Krahn, M.3
Bernard, R.4
Laforêt, P.5
Labelle, V.6
Urtizberea, J.A.7
Figarella-Branger, D.8
Romero, N.9
Attarian, S.10
Leturcq, F.11
Pouget, J.12
Lévy, N.13
Eymard, B.14
-
8
-
-
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 LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K. 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: 871-7.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 871-877
-
-
Weiler, T.1
Bashir, R.2
Anderson, L.V.3
Davison, K.4
Moss, J.A.5
Britton, S.6
Nylen, E.7
Keers, S.8
Vafiadaki, E.9
Greenberg, C.R.10
Bushby, C.R.11
Wrogemann, K.12
-
9
-
-
0029845713
-
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
-
Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996; 59: 872-8.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 872-878
-
-
Weiler, T.1
Greenberg, C.R.2
Nylen, E.3
Halliday, W.4
Morgan, K.5
Eggertson, D.6
Wrogemann, K.7
-
10
-
-
17444392526
-
Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms
-
Angelini C. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms. Acta Myol 2004; 23: 130-6.
-
(2004)
Acta Myol
, vol.23
, pp. 130-136
-
-
Angelini, C.1
-
11
-
-
33749486764
-
Limb-girdle muscular dystrophy in the United States
-
Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman HH, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, Mendell JR. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol 2006; 65: 995-1003.
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 995-1003
-
-
Moore, S.A.1
Shilling, C.J.2
Westra, S.3
Wall, C.4
Wicklund, M.P.5
Stolle, C.6
Brown, C.A.7
Michele, D.E.8
Piccolo, F.9
Winder, T.L.10
Stence, A.11
Barresi, R.12
King, N.13
King, W.14
Florence, J.15
Campbell, K.P.16
Fenichel, G.M.17
Stedman, H.H.18
Kissel, J.T.19
Griggs, R.C.20
Pandya, S.21
Mathews, K.D.22
Pestronk, A.23
Serrano, C.24
Darvish, D.25
Mendell, J.R.26
more..
-
12
-
-
33746864417
-
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene
-
Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. J Korean Med Sci 2006; 21: 724-7.
-
(2006)
J Korean Med Sci
, vol.21
, pp. 724-727
-
-
Cho, H.J.1
Sung, D.H.2
Kim, E.J.3
Yoon, C.H.4
Ki, C.S.5
Kim, J.W.6
-
13
-
-
9144247070
-
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy
-
Oh SH, Kim TS, Choi YC. Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. Yonsei Med J 2004; 45: 927-30.
-
(2004)
Yonsei Med J
, vol.45
, pp. 927-930
-
-
Oh, S.H.1
Kim, T.S.2
Choi, Y.C.3
-
14
-
-
3042795204
-
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B
-
Oh SH, Kang SW, Lee JG, Na SJ, Kim TS, Choi YC. Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. J Korean Med Sci 2004; 19: 447-52.
-
(2004)
J Korean Med Sci
, vol.19
, pp. 447-452
-
-
Oh, S.H.1
Kang, S.W.2
Lee, J.G.3
Na, S.J.4
Kim, T.S.5
Choi, Y.C.6
-
15
-
-
0040190385
-
Sporadic inclusion body myositis correlates with increased expression and crosslinking by transglutaminases 1 and 2
-
Choi YC, Park GT, Kim TS, Sunwoo IN, Steinert PM, Kim SY. Sporadic inclusion body myositis correlates with increased expression and crosslinking by transglutaminases 1 and 2. J Biol Chem 2000; 275: 8703-10.
-
(2000)
J Biol Chem
, vol.275
, pp. 8703-8710
-
-
Choi, Y.C.1
Park, G.T.2
Kim, T.S.3
Sunwoo, I.N.4
Steinert, P.M.5
Kim, S.Y.6
-
16
-
-
79952735881
-
4th Annual Dysferlin Conference 11-14 September 2010, Washington USA
-
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. 4th Annual Dysferlin Conference 11-14 September 2010, Washington, USA. Neuromuscul Disord 2011; 21: 304-10.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 304-310
-
-
Albrecht, D.E.1
Garg, N.2
Rufibach, L.E.3
Williams, B.A.4
Monnier, N.5
Hwang, E.6
Mittal, P.7
-
17
-
-
77954117345
-
Novel diagnostic features of dysferlinopathies
-
Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. Novel diagnostic features of dysferlinopathies. Muscle Nerve 2010; 42: 14-21.
-
(2010)
Muscle Nerve
, vol.42
, pp. 14-21
-
-
Rosales, X.Q.1
Gastier-Foster, J.M.2
Lewis, S.3
Vinod, M.4
Thrush, D.L.5
Astbury, C.6
Pyatt, R.7
Reshmi, S.8
Sahenk, Z.9
Mendell, J.R.10
-
18
-
-
77956624283
-
New aspects on patients affected by dysferlin deficient muscular dystrophy
-
Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmuller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry 2010; 81: 946-53.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 946-953
-
-
Klinge, L.1
Aboumousa, A.2
Eagle, M.3
Hudson, J.4
Sarkozy, A.5
Vita, G.6
Charlton, R.7
Roberts, M.8
Straub, V.9
Barresi, R.10
Lochmuller, H.11
Bushby, K.12
-
19
-
-
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, Anderson LV, Tolvanen-Mahjneh H, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 2001; 11: 20-6.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 20-26
-
-
Mahjneh, I.1
Marconi, G.2
Bushby, K.3
Anderson, L.V.4
Tolvanen-Mahjneh, H.5
Somer, H.6
-
20
-
-
0030477874
-
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
-
Mahjneh I, Passos-Bueno MR, Zatz M, Vainzof M, Marconi G, Nashef L, Bashir R, Bushby K. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromuscul Disord 1996; 6: 483-90.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 483-490
-
-
Mahjneh, I.1
Passos-Bueno, M.R.2
Zatz, M.3
Vainzof, M.4
Marconi, G.5
Nashef, L.6
Bashir, R.7
Bushby, K.8
-
21
-
-
0036022277
-
Clinical heterogeneity in dysferlinopathy
-
Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T. Clinical heterogeneity in dysferlinopathy. Intern Med 2002; 41: 532-6.
-
(2002)
Intern Med
, vol.41
, pp. 532-536
-
-
Ueyama, H.1
Kumamoto, T.2
Horinouchi, H.3
Fujimoto, S.4
Aono, H.5
Tsuda, T.6
-
22
-
-
0034709195
-
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
-
McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 2000; 91: 305-12.
-
(2000)
Am J Med Genet
, vol.91
, pp. 305-312
-
-
McNally, E.M.1
Ly, C.T.2
Rosenmann, H.3
Mitrani Rosenbaum, S.4
Jiang, W.5
Anderson, L.V.6
Soffer, D.7
Argov, Z.8
-
23
-
-
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, Kanzato N, Takashima H, Higuchi I, Matsumura T, Goto K, Arahata K, Osame M. Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J Neurol Sci 2001; 184: 15-9.
-
(2001)
J Neurol Sci
, vol.184
, pp. 15-19
-
-
Nakagawa, M.1
Matsuzaki, T.2
Suehara, M.3
Kanzato, N.4
Takashima, H.5
Higuchi, I.6
Matsumura, T.7
Goto, K.8
Arahata, K.9
Osame, M.10
-
24
-
-
0032884692
-
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy
-
Rowin J, Meriggioli MN, Cochran EJ, Sanders DB. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord 1999; 9: 417-20.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 417-420
-
-
Rowin, J.1
Meriggioli, M.N.2
Cochran, E.J.3
Sanders, D.B.4
-
25
-
-
78649823524
-
Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice
-
Han R, Frett EM, Levy JR, Rader EP, Lueck JD, Bansal D, Moore SA, Ng R, Beltrán-Valero de Bernabé D, Faulkner JA, Campbell KP. Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest 2010; 120: 4366-74.
-
(2010)
J Clin Invest
, vol.120
, pp. 4366-4374
-
-
Han, R.1
Frett, E.M.2
Levy, J.R.3
Rader, E.P.4
Lueck, J.D.5
Bansal, D.6
Moore, S.A.7
Ng, R.8
Beltrán-Valero de Bernabé, D.9
Faulkner, J.A.10
Campbell, K.P.11
-
26
-
-
40449085244
-
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B
-
Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP. Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol 2008; 172: 774-85.
-
(2008)
Am J Pathol
, vol.172
, pp. 774-785
-
-
Nagaraju, K.1
Rawat, R.2
Veszelovszky, E.3
Thapliyal, R.4
Kesari, A.5
Sparks, S.6
Raben, N.7
Plotz, P.8
Hoffman, E.P.9
-
27
-
-
77953207754
-
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle
-
Rawat R, Cohen TV, Ampong B, Francia D, Henriques-Pons A, Hoffman EP, Nagaraju K. Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. Am J Pathol 2010; 176: 2891-900.
-
(2010)
Am J Pathol
, vol.176
, pp. 2891-2900
-
-
Rawat, R.1
Cohen, T.V.2
Ampong, B.3
Francia, D.4
Henriques-Pons, A.5
Hoffman, E.P.6
Nagaraju, K.7
-
28
-
-
75349083088
-
Differenrial immunohistological feautres of inflammatory myopathies and dysferlinopathy
-
Choi JH, Park YE, Kim SI, Kim JI, Lee CH, Park KH, Kim DS. Differenrial immunohistological feautres of inflammatory myopathies and dysferlinopathy. J Korean Med Sci 2009; 24: 1015-23.
-
(2009)
J Korean Med Sci
, vol.24
, pp. 1015-1023
-
-
Choi, J.H.1
Park, Y.E.2
Kim, S.I.3
Kim, J.I.4
Lee, C.H.5
Park, K.H.6
Kim, D.S.7
-
29
-
-
0035943022
-
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
-
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001; 57: 271-8.
-
(2001)
Neurology
, vol.57
, pp. 271-278
-
-
Aoki, M.1
Liu, J.2
Richard, I.3
Bashir, R.4
Britton, S.5
Keers, S.M.6
Oeltjen, J.7
Brown, H.E.8
Marchand, S.9
Bourg, N.10
Beley, C.11
McKenna-Yasek, D.12
Arahata, K.13
Bohlega, S.14
Cupler, E.15
Illa, I.16
Majneh, I.17
Barohn, R.J.18
Urtizberea, J.A.19
Fardeau, M.20
Amato, A.21
Angelini, C.22
Bushby, K.23
Beckmann, J.S.24
Brown Jr., R.H.25
more..
-
30
-
-
10744219571
-
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype
-
Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH Jr, Itoyama Y. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 2003; 60: 1799-804.
-
(2003)
Neurology
, vol.60
, pp. 1799-1804
-
-
Takahashi, T.1
Aoki, M.2
Tateyama, M.3
Kondo, E.4
Mizuno, T.5
Onodera, Y.6
Takano, R.7
Kawai, H.8
Kamakura, K.9
Mochizuki, H.10
Shizuka-Ikeda, M.11
Nakagawa, M.12
Yoshida, Y.13
Akanuma, J.14
Hoshino, K.15
Saito, H.16
Nishizawa, M.17
Kato, S.18
Saito, K.19
Miyachi, T.20
Yamashita, H.21
Kawai, M.22
Matsumura, T.23
Kuzuhara, S.24
Ibi, T.25
Sahashi, K.26
Nakai, H.27
Kohnosu, T.28
Nonaka, I.29
Arahata, K.30
Brown Jr., R.H.31
Itoyama, Y.32
more..
|