-
1
-
-
0035097338
-
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
-
Politano L, Nigro V, Passamano L, et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromusc Disord 2001;11:178-85.
-
(2001)
Neuromusc Disord
, vol.11
, pp. 178-185
-
-
Politano, L.1
Nigro, V.2
Passamano, L.3
-
3
-
-
0346216799
-
Molecular bases of autosomal recessive limb-girdle muscular dystrophies
-
Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myol 2003;22:35-42.
-
(2003)
Acta Myol
, vol.22
, pp. 35-42
-
-
Nigro, V.1
-
4
-
-
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. NEJM 1997;336:618-24.
-
(1997)
NEJM
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
-
5
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995;10:243-5.
-
(1995)
Nat Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
-
6
-
-
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
-
Passos-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;4:1163-7.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1163-1167
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
-
7
-
-
0030951089
-
Primary SGCAopathy (α-sarcoglycanopathy): Clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
Eymard B, Romero N, Leturcq F, et al. Primary SGCAopathy (α-sarcoglycanopathy): clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997;48:1227-34.
-
(1997)
Neurology
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
Romero, N.2
Leturcq, F.3
-
8
-
-
16944365227
-
Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
-
Carrie A, Piccolo F, Leturcq F, et al. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997;34:470-5.
-
(1997)
J Med Genet
, vol.34
, pp. 470-475
-
-
Carrie, A.1
Piccolo, F.2
Leturcq, F.3
-
9
-
-
18544411456
-
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations
-
Moreira ES, Vainzof M, Suzuki OT, et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet 2003;40:12.
-
(2003)
J Med Genet
, vol.40
, pp. 12
-
-
Moreira, E.S.1
Vainzof, M.2
Suzuki, O.T.3
-
10
-
-
0031926620
-
A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy
-
van der Kooi AJ, de Visser M, van Meegen M, et al. A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy. Neuromusc Disord 1998;8:305-8.
-
(1998)
Neuromusc Disord
, vol.8
, pp. 305-308
-
-
Van Der Kooi, A.J.1
De Visser, M.2
Van Meegen, M.3
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