-
1
-
-
0005933477
-
The limb-girdle muscular dystrophies
-
Emery AEH, editor. London: Royal Society of Medicine Press
-
Bushby, K.M.D. The limb-girdle muscular dystrophies. In: Emery AEH, editor. Diagnostic criteria for neuromuscular disorders, second ed. London: Royal Society of Medicine Press; 1997:17-22.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders, Second Ed.
, pp. 17-22
-
-
Bushby, K.M.D.1
-
2
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds S.L., Leturcq F., Allamand V.et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 78:1994;625-633.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
3
-
-
0028883973
-
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S., McNally E.M., Ben Othmane K.et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
4
-
-
0028971221
-
Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim L.E., Duclos F., Broux O.et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 11:1995;257-265.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
-
5
-
-
0028971219
-
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bönnemann C.G., Modi R., Noguchi S.et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 11:1995;266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
-
6
-
-
0030008373
-
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
-
Passos-Bueno M.R., Moreira E.S., Vainzof M., Marie S.K., Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 5:1996;815-820.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 815-820
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
Marie, S.K.4
Zatz, M.5
-
7
-
-
0027032694
-
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
-
Ben Othmane K., Ben Hamida M., Pericak-Vance M.A. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 2:1992;315-317.
-
(1992)
Nat Genet
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
-
8
-
-
0030466607
-
Limb-girdle muscular dystrophy 2C: Clinical aspects
-
Ben Hamida M., Ben Hamida C., Zouari M., Belal S., Hentati F. Limb-girdle muscular dystrophy 2C: clinical aspects. Neuromusc Disord. 6:1996;493-494.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 493-494
-
-
Ben Hamida, M.1
Ben Hamida, C.2
Zouari, M.3
Belal, S.4
Hentati, F.5
-
9
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation
-
McNally E.M., Passos-Bueno M.R., Bönnemann C.G.et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 59:1996;1040-1047.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bönnemann, C.G.3
-
10
-
-
0029152259
-
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)
-
Ben Othmane K., Speer M.C., Stauffer J.et al. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Am J Hum Genet. 57:1995;732-734.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 732-734
-
-
Ben Othmane, K.1
Speer, M.C.2
Stauffer, J.3
-
11
-
-
0030469098
-
Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex
-
Duggan D.J., Hoffman E.P. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromusc Disord. 6:1996;475-482.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 475-482
-
-
Duggan, D.J.1
Hoffman, E.P.2
-
12
-
-
0031042885
-
Mutations in the sarcoglycan genes in patients with myopathy
-
Duggan D.J., Gorospe J.R., Fanin M., Hoffman E.P., Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 336:1997;618-624.
-
(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
-
13
-
-
10344249872
-
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy
-
McNally E.M., Duggan D., Gorospe J.R.et al. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 5:1996;1841-1847.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1841-1847
-
-
McNally, E.M.1
Duggan, D.2
Gorospe, J.R.3
-
14
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
Vainzof M., Passos-Bueno M.R., Canovas M.et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet. 5:1996;1963-1969.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Canovas, M.3
-
15
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo E., Roberds S.L., Jeanpierre M.et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 10:1995;243-245.
-
(1995)
Nat Genet
, vol.10
, pp. 243-245
-
-
Piccolo, E.1
Roberds, S.L.2
Jeanpierre, M.3
-
16
-
-
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 M.R., Moreira E.S., Vainzhof 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. 4:1995;1163-1167.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1163-1167
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzhof, M.3
-
17
-
-
10544243791
-
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
-
Piccolo F., Jeanpierre M., Leturq F.et al. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 5:1996;2019-2022.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2019-2022
-
-
Piccolo, F.1
Jeanpierre, M.2
Leturq, F.3
|