-
1
-
-
0032882445
-
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
-
Bushby KMD. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Gen. 1999;8:1875-1882.
-
(1999)
Hum Mol Gen
, vol.8
, pp. 1875-1882
-
-
Bushby, K.M.D.1
-
2
-
-
0033793971
-
Limb-girdle muscular dystrophy: One gene with different phenotypes* one phenotype with different genes
-
review
-
Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: one gene with different phenotypes* one phenotype with different genes. Curr Opin Neurol. 2000;13:511-517; review.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 511-517
-
-
Zatz, M.1
Vainzof, M.2
Passos-Bueno, M.R.3
-
3
-
-
0042071489
-
The 10 autosomal recessive limb-girdle muscular dystrophies
-
review
-
Zatz M, de Paula F, Starling A, et al. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord. 2003;13:532-544; review.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 532-544
-
-
Zatz, M.1
De Paula, F.2
Starling, A.3
-
4
-
-
0034284682
-
A mutation in the Myotilin gene causes limb-girdle muscular dystrophy 1A
-
Hauser MA, Horrigan SK, Salmikangas P, et al. A mutation in the Myotilin gene causes limb-girdle muscular dystrophy 1A. Hum Mol Gen. 2000;9:2141-2147.
-
(2000)
Hum Mol Gen
, vol.9
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
-
5
-
-
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, Van Meegen M, Ledderhof TM, et al. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Gen. 1997;60:891-895.
-
(1997)
Am J Hum Gen
, vol.60
, pp. 891-895
-
-
Van Der Kooi, A.1
Van Meegen, M.2
Ledderhof, T.M.3
-
6
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998;18:365-368.
-
(1998)
Nat Genet
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
-
8
-
-
0030882270
-
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
-
Messina DI, Speer MC, Pericak-Vance MA, et al. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Gen. 1997;61:909-917.
-
(1997)
Am J Hum Gen
, vol.61
, pp. 909-917
-
-
Messina, D.I.1
Speer, M.C.2
Pericak-Vance, M.A.3
-
9
-
-
0033073978
-
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
-
Speer MC, Vance JM, Grubber JM, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Gen. 1999;64:556-562.
-
(1999)
Am J Hum Gen
, vol.64
, pp. 556-562
-
-
Speer, M.C.1
Vance, J.M.2
Grubber, J.M.3
-
10
-
-
0032471403
-
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31
-
Feit H, Silbergleit A, Schneider LB, et al. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am J Hum Gen. 1998;63:1732-1742.
-
(1998)
Am J Hum Gen
, vol.63
, pp. 1732-1742
-
-
Feit, H.1
Silbergleit, A.2
Schneider, L.B.3
-
11
-
-
10044247184
-
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
-
Starling A, Kok F, Passos-Bueno MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet. 2004;12:1033-1140.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 1033-1140
-
-
Starling, A.1
Kok, F.2
Passos-Bueno, M.R.3
-
12
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD, et al. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature. 1990;345:315-319.
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
-
13
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem. 1990;108:748-752.
-
(1990)
J Biochem
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
14
-
-
0026757138
-
Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tome FM, Collin H, et al. Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. 1992;359:320-322.
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tome, F.M.2
Collin, H.3
-
15
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 1989;338:259-262.
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
16
-
-
10544234620
-
The sarcoglycan complex in the six recessive limb-girdle muscular dystrophies
-
Vainzof M, Passos-Bueno MR, Canovas M, et al. The sarcoglycan complex in the six recessive limb-girdle muscular dystrophies. Hum Mol Gen. 1996;5:1963-1969.
-
(1996)
Hum Mol Gen
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Canovas, M.3
-
17
-
-
0032617407
-
Limb-girdle muscular dystrophies: An overview
-
Bonnemann CG. Limb-girdle muscular dystrophies: an overview. J Child Neurol. 1999;14:31-33.
-
(1999)
J Child Neurol
, vol.14
, pp. 31-33
-
-
Bonnemann, C.G.1
-
19
-
-
0033559299
-
Sarcoglycanopathies are responsible for 68% of severe autossomal recessive limb-girdle muscular dystrophy in the Brazilian population
-
Vainzof M, Passos-Bueno MR, Pavanello RCM, et al. Sarcoglycanopathies are responsible for 68% of severe autossomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci. 1999;164:44-49.
-
(1999)
J Neurol Sci
, vol.164
, pp. 44-49
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Pavanello, R.C.M.3
-
20
-
-
18544411456
-
Genotype-phenotype correlation in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations
-
Moreira ES, Vainzof M, Suzuki OT, et al. Genotype-phenotype correlation in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Gen. 2003;40:e12.
-
(2003)
J Med Gen
, vol.40
-
-
Moreira, E.S.1
Vainzof, M.2
Suzuki, O.T.3
-
21
-
-
0028835527
-
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC workshop on limb-girdle muscular dystrophies
-
Bushby KMD, Beckmann JS. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC workshop on limb-girdle muscular dystrophies. Neuromusc Disord. 1995;5:71-74.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 71-74
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
22
-
-
0025979087
-
Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxyterminal and the amino-terminal region of the protein
-
Vainzof M, Zubrzycka-Gaan EE, Rapaport D, et al. Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxyterminal and the amino-terminal region of the protein. J Neurol Sci. 1991;101:141-147.
-
(1991)
J Neurol Sci
, vol.101
, pp. 141-147
-
-
Vainzof, M.1
Zubrzycka-Gaan, E.E.2
Rapaport, D.3
-
23
-
-
0024284028
-
A Yesple salting out procedure for extracting DNA from human cells
-
Miller SA, Dykes DD, Polesky HF. A Yesple salting out procedure for extracting DNA from human cells. Nucleic Acids Res. 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
24
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as a single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as a single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 1989;86:2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
-
25
-
-
0025835296
-
Fast and sensitive silver staining of DNA in polyacrylamide gels
-
Bassam BJ, Caetano-Anoles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem. 1991;196:80-83.
-
(1991)
Anal Biochem
, vol.196
, pp. 80-83
-
-
Bassam, B.J.1
Caetano-Anoles, G.2
Gresshoff, P.M.3
-
26
-
-
0032929386
-
Multiplex western blotting system for the analysis of muscular dystrophy proteins
-
Anderson LVB, Davison K. Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol. 1999;154:1017-1022.
-
(1999)
Am J Pathol
, vol.154
, pp. 1017-1022
-
-
Anderson, L.V.B.1
Davison, K.2
-
27
-
-
0030784953
-
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations
-
Fanin M, Duggan DJ, Mostacciuolo ML, et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997;34:973-977.
-
(1997)
J Med Genet
, vol.34
, pp. 973-977
-
-
Fanin, M.1
Duggan, D.J.2
Mostacciuolo, M.L.3
-
28
-
-
0031128814
-
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)
-
Duggan DJ, Manchester D, Stears KP, et al. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics. 1997;1:49-58.
-
(1997)
Neurogenetics
, vol.1
, pp. 49-58
-
-
Duggan, D.J.1
Manchester, D.2
Stears, K.P.3
-
29
-
-
0032898847
-
The clinical spectrum of sarcoglycanopathies
-
Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology. 1999;52:176-179.
-
(1999)
Neurology
, vol.52
, pp. 176-179
-
-
Angelini, C.1
Fanin, M.2
Freda, M.P.3
-
30
-
-
0029152259
-
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)
-
Othmane KB, Speer M, Stauffer J, et al. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Am J Hum Gen. 1995;57:732-734.
-
(1995)
Am J Hum Gen
, vol.57
, pp. 732-734
-
-
Othmane, K.B.1
Speer, M.2
Stauffer, J.3
-
31
-
-
0029047106
-
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
-
Bueno MR, Moreira ES, Vainzof M, et al. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet. 1995;4:1163-1167.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1163-1167
-
-
Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
-
32
-
-
0031042885
-
Mutations in the sarcoglycan genes in patients with myopathy
-
Duggan DJ, Gorospe JR, Fanin M, et al. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 1997;336:618-624.
-
(1997)
N Engl J Med
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
-
33
-
-
4344562114
-
Spinal muscular atrophy: Neuromuscular disorders
-
Alan EH, ed. New York: John Wiley & Sons
-
Melki J. Spinal muscular atrophy: neuromuscular disorders. In: Alan EH, ed. Clinical and Molecular Genetics Emery. New York: John Wiley & Sons; 1998:421-429.
-
(1998)
Clinical and Molecular Genetics Emery
, pp. 421-429
-
-
Melki, J.1
-
34
-
-
4344572347
-
Calpainopathy. How broad is the spectrum of clinical variability?
-
Starling A, de Paula F, Silva H, et al. Calpainopathy. How broad is the spectrum of clinical variability? J Mol Neurosci. 2003;21:233-236.
-
(2003)
J Mol Neurosci
, vol.21
, pp. 233-236
-
-
Starling, A.1
De Paula, F.2
Silva, H.3
|