-
1
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
Nigro, V., de Sa Moreira, E., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R. and Zatz, M. (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nature Genet., 14, 195-198.
-
(1996)
Nature Genet.
, vol.14
, pp. 195-198
-
-
Nigro, V.1
De Sa Moreira, E.2
Piluso, G.3
Vainzof, M.4
Belsito, A.5
Politano, L.6
Puca, A.A.7
Passos-Bueno, M.R.8
Zatz, M.9
-
2
-
-
10544252688
-
Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
-
Bonnemann, C.G., Passos-Bueno, M.R., McNally, E.M., Vainzof, M., de Sa Moreira, E., Marie, S.K., Pavanello, R.C., Noguchi, S., Ozawa, E., Zatz, M. et al. (1996) Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum. Mol. Genet., 5, 1953-1961.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1953-1961
-
-
Bonnemann, C.G.1
Passos-Bueno, M.R.2
McNally, E.M.3
Vainzof, M.4
De Sa Moreira, E.5
Marie, S.K.6
Pavanello, R.C.7
Noguchi, S.8
Ozawa, E.9
Zatz, M.10
-
3
-
-
10344249872
-
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy
-
McNally, E.M., Duggan, D., Gorospe, J.R., Bonnemann, C.G., Fanin, M., Pegoraro, E., Lidov, H.G., Noguchi, S., Ozawa, E., Finkel, R.S. et al. (1996) Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum. Mol. Genet., 5, 1841-1847.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1841-1847
-
-
McNally, E.M.1
Duggan, D.2
Gorospe, J.R.3
Bonnemann, C.G.4
Fanin, M.5
Pegoraro, E.6
Lidov, H.G.7
Noguchi, S.8
Ozawa, E.9
Finkel, R.S.10
-
4
-
-
0032479445
-
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A
-
Ono, Y., Shimada, H., Sorimachi, H., Richard, I., Saido, T.C., Beckmann, J.S., Ishiura, S. and Suzuki, K. (1998) Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. J. Biol. Chem., 273, 17073-17078.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 17073-17078
-
-
Ono, Y.1
Shimada, H.2
Sorimachi, H.3
Richard, I.4
Saido, T.C.5
Beckmann, J.S.6
Ishiura, S.7
Suzuki, K.8
-
5
-
-
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, J.A., Hentati, F., Hamida, M.B. et al. (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genet., 20, 31-36.
-
(1998)
Nature 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
-
6
-
-
16944365227
-
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
-
Carrie, A., Piccolo, F., Leturcq, F., de Toma, C., Azibi, K., Beldjord, C., Vallat, J.M., Merlini, L., Voit, T., Sewry, C. et al. (1997) Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J. Med. Genet., 34, 470-475.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 470-475
-
-
Carrie, A.1
Piccolo, F.2
Leturcq, F.3
De Toma, C.4
Azibi, K.5
Beldjord, C.6
Vallat, J.M.7
Merlini, L.8
Voit, T.9
Sewry, C.10
-
7
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A. et al. (1998) Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet., 18, 365-368.
-
(1998)
Nature Genet.
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
Masetti, E.7
Mazzocco, M.8
Egeo, A.9
Donati, M.A.10
-
8
-
-
0033954004
-
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
-
Moreira, E.S., Wiltshire, T., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O.T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M.R., et al. (2000) Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nature Genet., 24, 163-166.
-
(2000)
Nature Genet.
, vol.24
, pp. 163-166
-
-
Moreira, E.S.1
Wiltshire, T.2
Faulkner, G.3
Nilforoushan, A.4
Vainzof, M.5
Suzuki, O.T.6
Valle, G.7
Reeves, R.8
Zatz, M.9
Passos-Bueno, M.R.10
-
9
-
-
0029994718
-
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
-
van der Kooi, A.J., Ledderhof, T.M., de Voogt, W.G., Res, C.J., Bouwsma, G., Troost, D., Busch, H.F., Becker, A.E. and de Visser, M. (1996) A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann. Neurol., 39, 636-642.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 636-642
-
-
Van Der Kooi, A.J.1
Ledderhof, T.M.2
De Voogt, W.G.3
Res, C.J.4
Bouwsma, G.5
Troost, D.6
Busch, H.F.7
Becker, A.E.8
De Visser, M.9
-
10
-
-
0030898109
-
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
-
van der Kooi, A.J., van Meegen, M., Ledderhof, T.M., McNally, E.M., de Visser, M. and Bolhuis. P.A. (1997) Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am. J. Hum. Genet., 60, 891-895.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 891-895
-
-
Van Der Kooi, A.J.1
Van Meegen, M.2
Ledderhof, T.M.3
McNally, E.M.4
De Visser, M.5
Bolhuis, P.A.6
-
11
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne, G., Di Barletta, M.R., Varnous, S., Becane, H., Hammouda, E.H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.A. et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet., 21, 285-288.
-
(1999)
Nature Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.4
Hammouda, E.H.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.R.8
Gary, F.9
Urtizberea, J.A.10
-
12
-
-
0024419522
-
Emery-Dreifuss syndrome
-
Emery, A.E. (1989) Emery-Dreifuss syndrome. J. Med. Genet., 26, 637-641.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 637-641
-
-
Emery, A.E.1
-
13
-
-
0032907629
-
60th ENMC international workshop: Non X-linked Emery-Dreifuss muscular dystrophy, 5-7 June 1998
-
Wehnert, M. and Muntoni, F. (1999) 60th ENMC International Workshop: Non X-linked Emery-Dreifuss muscular dystrophy, 5-7 June 1998. Neuromusc. Disord., 9, 115-120.
-
(1999)
Neuromusc. Disord.
, vol.9
, pp. 115-120
-
-
Wehnert, M.1
Muntoni, F.2
-
14
-
-
0022648101
-
Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
-
McKeon, F.D., Kirschner, M.W. and Caput, D. (1986) Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature, 319, 463-468.
-
(1986)
Nature
, vol.319
, pp. 463-468
-
-
McKeon, F.D.1
Kirschner, M.W.2
Caput, D.3
-
15
-
-
0023032014
-
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
-
Fisher, D.Z., Chaudhary, N. and Blobel, G. (1986) cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc. Natl Acad. Sci. USA, 83, 6450-6454.
-
(1986)
Proc. Natl Acad. Sci. USA
, vol.83
, pp. 6450-6454
-
-
Fisher, D.Z.1
Chaudhary, N.2
Blobel, G.3
-
16
-
-
0025149541
-
The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
-
Worman, H.J., Evans, C.D. and Blobel, G. (1990) The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains. J. Cell Biol., 111, 1535-1542.
-
(1990)
J. Cell Biol.
, vol.111
, pp. 1535-1542
-
-
Worman, H.J.1
Evans, C.D.2
Blobel, G.3
-
17
-
-
0028989340
-
Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope
-
Furukawa, K., Pante, N., Aebi, U. and Gerace, L. (1995) Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J., 14, 1626-1636.
-
(1995)
EMBO J.
, vol.14
, pp. 1626-1636
-
-
Furukawa, K.1
Pante, N.2
Aebi, U.3
Gerace, L.4
-
18
-
-
0027442899
-
The alpha-helical rod domain of human lamins A and C contains a chromatin binding site
-
Glass, C.A., Glass, J.R., Taniura, H., Hasel, K.W., Blevitt, J.M. and Gerace, L. (1993) The alpha-helical rod domain of human lamins A and C contains a chromatin binding site. EMBO J., 12, 4413-4424.
-
(1993)
EMBO J.
, vol.12
, pp. 4413-4424
-
-
Glass, C.A.1
Glass, J.R.2
Taniura, H.3
Hasel, K.W.4
Blevitt, J.M.5
Gerace, L.6
-
19
-
-
0029100609
-
A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones
-
Taniura, H., Glass, C. and Gerace, L. (1995) A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones. J. Cell Biol., 131, 33-44.
-
(1995)
J. Cell Biol.
, vol.131
, pp. 33-44
-
-
Taniura, H.1
Glass, C.2
Gerace, L.3
-
20
-
-
0025352896
-
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
-
Heald, R. and McKeon, F. (1990) Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell, 61, 579-589.
-
(1990)
Cell
, vol.61
, pp. 579-589
-
-
Heald, R.1
McKeon, F.2
-
21
-
-
0028279523
-
Epidermal disease: Faulty keratin filaments take their toll
-
Compton, J.G. (1994) Epidermal disease: faulty keratin filaments take their toll. Nature Genet., 6, 6-7.
-
(1994)
Nature Genet.
, vol.6
, pp. 6-7
-
-
Compton, J.G.1
-
22
-
-
0030455978
-
Human keratin diseases: Hereditary fragility of specific epithelial tissues
-
Corden, L.D. and McLean, W.H. (1996) Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp. Dermatol., 5, 297-307.
-
(1996)
Exp. Dermatol.
, vol.5
, pp. 297-307
-
-
Corden, L.D.1
McLean, W.H.2
-
23
-
-
0024064963
-
Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm
-
Loewinger, L. and McKeon, F. (1988) Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm. EMBO J., 7, 2301-2309.
-
(1988)
EMBO J.
, vol.7
, pp. 2301-2309
-
-
Loewinger, L.1
McKeon, F.2
-
24
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C.L. and Burke, B. (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Biol., 147, 913-920.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
25
-
-
0024380341
-
Emery-Dreifuss muscular dystrophy and other related disorders
-
Emery, A.E.H. (1989) Emery-Dreifuss muscular dystrophy and other related disorders. Br. Med. Bull., 45, 772-787.
-
(1989)
Br. Med. Bull.
, vol.45
, pp. 772-787
-
-
Emery, A.E.H.1
-
26
-
-
0026377661
-
European workshop on Emery-Dreifuss muscular dystrophy 1991
-
Yates, J.R.W. (1991) European workshop on Emery-Dreifuss muscular dystrophy 1991. Neuromusc. Disord., 1, 393-396.
-
(1991)
Neuromusc. Disord.
, vol.1
, pp. 393-396
-
-
Yates, J.R.W.1
-
27
-
-
0029873710
-
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
-
Bashir, R., Keers, S., Strachan, T., Passos-Bueno, R., Zatz, M., Weissenbach, J., Le Paslier, D., Meisler, M. and Bushby, K. (1996) Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics, 33, 46-52.
-
(1996)
Genomics
, vol.33
, pp. 46-52
-
-
Bashir, R.1
Keers, S.2
Strachan, T.3
Passos-Bueno, R.4
Zatz, M.5
Weissenbach, J.6
Le Paslier, D.7
Meisler, M.8
Bushby, K.9
-
28
-
-
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, C.R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D. and Wrogemann, K. (1996) 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., 59, 872-878.
-
(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
-
29
-
-
0032955751
-
Dysferlin is a plasma membrane protein and is expressed early in human development
-
Anderson, L.V., Davison, K., Moss, J.A., Young, C., Cullen, M.J., Walsh, J., Johnson, M.A., Bashir, R., Britton, S., Keers, S. et al. (1999) Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet., 8, 855-861.
-
(1999)
Hum Mol Genet.
, vol.8
, pp. 855-861
-
-
Anderson, L.V.1
Davison, K.2
Moss, J.A.3
Young, C.4
Cullen, M.J.5
Walsh, J.6
Johnson, M.A.7
Bashir, R.8
Britton, S.9
Keers, S.10
-
30
-
-
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., Davison, K., Moss, J.A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C.R. et al. (1999) Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Mol. Genet., 8, 871-877.
-
(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
-
31
-
-
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., Vereshchagin, N.V., Markova, E.D., Poleshchuk, V.V., Lozhnikova, S.M., Sukhorukov, V.S., Limborska, S.A., Slominsky, P.A. et al. (1996) Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain, 119, 1895-1909.
-
(1996)
Brain
, vol.119
, pp. 1895-1909
-
-
Illarioshkin, S.N.1
Ivanova-Smolenskaya, I.A.2
Tanaka, H.3
Vereshchagin, N.V.4
Markova, E.D.5
Poleshchuk, V.V.6
Lozhnikova, S.M.7
Sukhorukov, V.S.8
Limborska, S.A.9
Slominsky, P.A.10
-
32
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky, G.L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C. and Mestroni, L. (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation, 101, 473-476.
-
(2000)
Circulation
, vol.101
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
Sinagra, G.4
Sewry, C.5
Mestroni, L.6
-
33
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin, D., MacRae, C., Sasaki, T., Wolff, M.R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H.J., Spudich, S., De Girolami, U. et al. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med., 341, 1715-1724.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
Atherton, J.7
Vidaillet, H.J.8
Spudich, S.9
De Girolami, U.10
-
34
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao, H. and Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet., 9, 109-112.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
35
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton, S., Lloyd, D.J., Jackson, S.N., Evans, R., Niermeijer, M.F., Singh, B.M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P.N. et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet., 24, 153-156.
-
(2000)
Nature Genet.
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
Evans, R.4
Niermeijer, M.F.5
Singh, B.M.6
Schmidt, H.7
Brabant, G.8
Kumar, S.9
Durrington, P.N.10
-
36
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin, F. and Worman, H.J. (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem., 268, 16321-16326.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
37
-
-
0028886136
-
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
-
Bonne, G., Carrier, L., Bercovici, J., Cruaud, C., Richard, P., Hainque, B., Gautel, M., Labeit, S., James, M., Beckmann, J.S. et al. (1995) Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature Genet., 11, 438-440.
-
(1995)
Nature Genet.
, vol.11
, pp. 438-440
-
-
Bonne, G.1
Carrier, L.2
Bercovici, J.3
Cruaud, C.4
Richard, P.5
Hainque, B.6
Gautel, M.7
Labeit, S.8
James, M.9
Beckmann, J.S.10
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