-
1
-
-
0030477156
-
Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies
-
Anderson LV. Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 1996; 6: 443-6.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 443-446
-
-
Anderson, L.V.1
-
3
-
-
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, et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 1996; 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
-
4
-
-
0030055567
-
Genetic studies and molecular structures: The dystrophin associated complex
-
Beckmann JS. Genetic studies and molecular structures: the dystrophin associated complex. Hum Mol Genet 1996; 5: 865-7.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 865-867
-
-
Beckmann, J.S.1
-
5
-
-
0028951204
-
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
-
Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995; 45: 768-72.
-
(1995)
Neurology
, vol.45
, pp. 768-772
-
-
Bejaoui, K.1
Hirabayashi, K.2
Hentati, F.3
Haines, J.L.4
Ben Hamida, C.5
Belal, S.6
-
6
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995; 11: 266-73.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
-
7
-
-
0030453359
-
Towards the classification of the autosomal recessive limb-girdle muscular dystrophies
-
Bushby KM. Towards the classification of the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 1996; 6: 439-41.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 439-441
-
-
Bushby, K.M.1
-
8
-
-
0005933477
-
The limb-girdle muscular dystrophies
-
Emery AEH, editor. London: Royal Society of Medicine Press
-
Bushby KM. The limb-girdle muscular dystrophies. In: Emery AEH, editor. Diagnostic criteria for neuromuscular disorders. London: Royal Society of Medicine Press; 1997. p. 17-22.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders
, pp. 17-22
-
-
Bushby, K.M.1
-
9
-
-
0029334512
-
The limb-girdle muscular dystrophies - Proposal for a new nomenclature
-
Bushby KM, Beckmann JS. The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromuscul Disord 1995; 5: 337-43.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
10
-
-
6844236397
-
Congenital muscular dystrophies
-
Emery AEH, editor. London: Royal Society of Medicine Press
-
Dubowitz V. Congenital muscular dystrophies. In: Emery AEH, editor. Diagnostic criteria for neuromuscular disorders. London: Royal Society of Medicine Press; 1997. p. 23-6.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders
, pp. 23-26
-
-
Dubowitz, V.1
-
11
-
-
0031042885
-
Mutations in the sarcoglycan genes in patients with myopathy
-
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy [see comments]. N Engl J Med 1997; 336: 618-24. Comment in: N Engl J Med 1997; 336: 650-1.
-
(1997)
N Engl J Med
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
Hoffman, E.P.4
Angelini, C.5
-
12
-
-
0031048434
-
-
Comment
-
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy [see comments]. N Engl J Med 1997; 336: 618-24. Comment in: N Engl J Med 1997; 336: 650-1.
-
(1997)
N Engl J Med
, vol.336
, pp. 650-651
-
-
-
13
-
-
0029963979
-
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
-
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, et al. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.
-
(1996)
Brain
, vol.119
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
Feingold, N.4
Feingold, J.5
Mignard, D.6
-
14
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216-8.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
Cruaud, C.4
Tesson, F.5
Weissenbach, J.6
-
15
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-61.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Faure, S.3
Topaloglu, H.4
Chiannilkulchai, N.5
Guicheney, P.6
-
16
-
-
0028971221
-
Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257-65.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
-
17
-
-
0030477874
-
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
-
Mahjneh I, Passos-Bueno MR, Zatz M, Vainzof M, Marconi G, Nashef L, et al. 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
-
18
-
-
0030614661
-
Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy
-
Naom IS, D'Allessandro M, Topaloglu H, Sewry CA, Ferlini A, Helbling-Leclerc A, et al. Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J Med Genet 1997; 34: 99-104.
-
(1997)
J Med Genet
, vol.34
, pp. 99-104
-
-
Naom, I.S.1
D'Allessandro, M.2
Topaloglu, H.3
Sewry, C.A.4
Ferlini, A.5
Helbling-Leclerc, A.6
-
19
-
-
0024801848
-
Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody
-
Nicholson LV, Davison K, Falkous G, Harwood C, O'Donnell E, Slater CR, et al. Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J Neurol Sci 1989; 94: 125-36.
-
(1989)
J Neurol Sci
, vol.94
, pp. 125-136
-
-
Nicholson, L.V.1
Davison, K.2
Falkous, G.3
Harwood, C.4
O'Donnell, E.5
Slater, C.R.6
-
20
-
-
0025316225
-
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
-
Berl
-
Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 1990; 80: 239-50.
-
(1990)
Acta Neuropathol
, vol.80
, pp. 239-250
-
-
Nicholson, L.V.1
Johnson, M.A.2
Gardner-Medwin, D.3
Bhattacharya, S.4
Harris, J.B.5
-
21
-
-
0027203989
-
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups
-
Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D, Curtis A, Ginjaar IB et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. J Med Genet 1993; 30: 728-36.
-
(1993)
J Med Genet
, vol.30
, pp. 728-736
-
-
Nicholson, L.V.1
Johnson, M.A.2
Bushby, K.M.3
Gardner-Medwin, D.4
Curtis, A.5
Ginjaar, I.B.6
-
22
-
-
0029883979
-
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein
-
Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, et al. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 1996; 58: 1177-84.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1177-1184
-
-
Nissinen, M.1
Helbling-Leclerc, A.2
Zhang, X.3
Evangelista, T.4
Topaloglu, H.5
Cruaud, C.6
-
23
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy [see comments]. Science 1995; 270: 819-822.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
Hagiwara, Y.4
Mizuno, Y.5
Yoshida, M.6
-
24
-
-
0028877455
-
-
Comment
-
Comment in: Science 1995; 270: 755-6.
-
(1995)
Science
, vol.270
, pp. 755-756
-
-
-
25
-
-
0030220198
-
Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy
-
North KN, Beggs AH. Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996; 6: 229-35.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 229-235
-
-
North, K.N.1
Beggs, A.H.2
-
26
-
-
0029061267
-
Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
-
Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995; 5: 301-5.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
27
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
-
28
-
-
0030482285
-
Abnormalities in α, β and γ sarcoglycan in patients with limb-girdle muscular dystrophy
-
Sewry CA, Taylor J, Anderson LVB, Ozawa E, Pogue R, Piccolo F, et al. Abnormalities in α, β and γ sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromuscul Disord 1996; 6: 467-74.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 467-474
-
-
Sewry, C.A.1
Taylor, J.2
Anderson, L.V.B.3
Ozawa, E.4
Pogue, R.5
Piccolo, F.6
-
29
-
-
0031054624
-
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)
-
Spencer MJ, Tidball JG, Anderson LV, Bushby KM, Harris JB, Passos-Bueno MR, et al. Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). J Neurol Sci 1997; 146: 173-8.
-
(1997)
J Neurol Sci
, vol.146
, pp. 173-178
-
-
Spencer, M.J.1
Tidball, J.G.2
Anderson, L.V.3
Bushby, K.M.4
Harris, J.B.5
Passos-Bueno, M.R.6
-
30
-
-
0030990635
-
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency
-
Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromuscul Disord 1997; 7: 85-9.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 85-89
-
-
Tan, E.1
Topaloglu, H.2
Sewry, C.3
Zorlu, Y.4
Naom, I.5
Erdem, S.6
-
31
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317: 351-7.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 351-357
-
-
Tome, F.M.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estournet, B.6
-
32
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996; 5: 1963-9.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Canovas, M.3
Moreira, E.S.4
Pavanello, R.C.5
Marie, S.K.6
-
33
-
-
0030465319
-
Merosin/laminin-2 and muscular dystrophy
-
Wewer UM, Engvall E. Merosin/laminin-2 and muscular dystrophy. [Review]. Neuromuscul Disord 1996; 6: 409-18.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 409-418
-
-
Wewer, U.M.1
Engvall, E.2
|