-
1
-
-
0029334512
-
The limb-girdle muscular dystrophies. Proposal for a new nomenclature
-
Bushby KMD, Beckmann JS. The limb-girdle muscular dystrophies. Proposal for a new nomenclature. Neuromusc Disord 1995;5:337-43.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
2
-
-
0026027805
-
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis
-
Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis. C R Acad Sci Paris 1991;312:141-8.
-
(1991)
C R Acad Sci Paris
, vol.312
, pp. 141-148
-
-
Beckmann, J.S.1
Richard, I.2
Hillaire, D.3
-
3
-
-
0028326542
-
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
-
Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-7.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 455-457
-
-
Bashir, R.1
Strachan, T.2
Keers, S.3
-
4
-
-
0027032694
-
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
-
Ben Othmane KB, Ben Hamida M, Pericak-Vance MA, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315-17.
-
(1992)
Nat Genet
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.B.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
-
5
-
-
0027959491
-
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21
-
McNally EM, Yoshida M, Mizuno Y, et al. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci USA 1994;91:9690-4.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 9690-9694
-
-
McNally, E.M.1
Yoshida, M.2
Mizuno, Y.3
-
6
-
-
0028971221
-
β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, et al, β-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
-
7
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann CG, Modi R, Noguchi S, 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
-
8
-
-
0030008373
-
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (ARLGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of ARLGMD
-
Passos-Bueno MR, Moreira ES, Vainzof M, et al. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (ARLGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of ARLGMD. Hum Mol Genet 1996;5:815-20.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 815-820
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
-
9
-
-
0028905205
-
Mutations in the proteolytic enzyme, calpain-3, cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic enzyme, calpain-3, cause limb-girdle muscular dystrophy type 2A. Cell 1995;87:27-40.
-
(1995)
Cell
, vol.87
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
-
10
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
11
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
12
-
-
10144247267
-
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
-
Nigro V, Piluso G, Belsito A, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996;5:1179-86.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1179-1186
-
-
Nigro, V.1
Piluso, G.2
Belsito, A.3
-
13
-
-
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;345:315-19.
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
-
14
-
-
0029089582
-
Dystrophin-associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Suzuki A, et al. Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995;4:1711-16.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Suzuki, A.3
-
15
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, Moreira E, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996;14:195-8.
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
Moreira, E.2
Piluso, G.3
-
16
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
Vainzof M, Passos-Bueno MR, Canovas M, 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
-
17
-
-
0030248268
-
α-sarcoglycan (adhalin) deficiency: Complete deficiency are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations
-
Duggan DJ, Fanin M, Pegoraro E, et al. α-sarcoglycan (adhalin) deficiency: complete deficiency are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 1996;140:30-9.
-
(1996)
J Neurol Sci
, vol.140
, pp. 30-39
-
-
Duggan, D.J.1
Fanin, M.2
Pegoraro, E.3
-
18
-
-
0029094331
-
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency
-
Kawai H, Akaike M, Endo T, et al. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J Clin Invest 1995;96:1202-7.
-
(1995)
J Clin Invest
, vol.96
, pp. 1202-1207
-
-
Kawai, H.1
Akaike, M.2
Endo, T.3
-
19
-
-
0029164775
-
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
-
Ljunggren A, Duggan DJ, McNally E, et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995;38:367-72.
-
(1995)
Ann Neurol
, vol.38
, pp. 367-372
-
-
Ljunggren, A.1
Duggan, D.J.2
McNally, E.3
-
20
-
-
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
-
21
-
-
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
-
22
-
-
10544252688
-
Genomic screening for β-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E)
-
Bonnemann CG, Passos-Bueno MR, McNally EM, et al. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Hum Mol Genet 1996;5:1953-61.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1953-1961
-
-
Bonnemann, C.G.1
Passos-Bueno, M.R.2
McNally, E.M.3
-
23
-
-
10344249872
-
Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
-
McNally E, Duggan DJ, Gorospe JR, et al. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996;5:1841-7.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1841-1847
-
-
McNally, E.1
Duggan, D.J.2
Gorospe, J.R.3
-
24
-
-
10544243791
-
A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
-
Piccolo F, Jeanpierre M, Leturcq F, et al. A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum Mol Genet 1996;5:2019-22.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2019-2022
-
-
Piccolo, F.1
Jeanpierre, M.2
Leturcq, F.3
-
25
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
-
McNally EM, Passos-Bueno MR, Bonnemann C, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-7.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bonnemann, C.3
-
26
-
-
18544402590
-
Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
-
Jung D, Leturcq F, Sunada Y, et al. Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 1996;381:15-20.
-
(1996)
FEBS Lett
, vol.381
, pp. 15-20
-
-
Jung, D.1
Leturcq, F.2
Sunada, Y.3
-
27
-
-
0030482285
-
Abnormalities in α-, β-, and γ-sarcoglycan in patients with limb-girdle muscular dystrophy
-
Sewry CA, Taylor J, Anderson LVB, et al. Abnormalities in α-, β-, and γ-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord 1996;6:467-74.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 467-474
-
-
Sewry, C.A.1
Taylor, J.2
Anderson, L.V.B.3
-
28
-
-
0031042885
-
Mutations in the sarcoglycan genes in myopathy patients
-
Duggan DJ, Gorospe JR, Fanin M, et al. Mutations in the sarcoglycan genes in myopathy patients. N Engl J Med 1997;336:618-24.
-
(1997)
N Engl J Med
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
-
29
-
-
0011371688
-
A severe case of Duchenne-like muscular dystrophy due to a mutation in the α-sarcoglycan (adhalin) gene
-
Fanin M, Martinello F, Duggan DJ, et al. A severe case of Duchenne-like muscular dystrophy due to a mutation in the α-sarcoglycan (adhalin) gene. Basic Appl Myol 1996;6:95-100.
-
(1996)
Basic Appl Myol
, vol.6
, pp. 95-100
-
-
Fanin, M.1
Martinello, F.2
Duggan, D.J.3
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