-
1
-
-
0032855394
-
Making sense of the limb-girdle muscular dystrophies
-
Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122(pt 8):1403-1420.
-
(1999)
Brain
, vol.122
, Issue.PART 8
, pp. 1403-1420
-
-
Bushby, K.M.1
-
2
-
-
0035996026
-
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies
-
Bonnemann CG, Finkel RS. Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. Semin Pediatr Neurol 2002;9:81-99.
-
(2002)
Semin Pediatr Neurol
, vol.9
, pp. 81-99
-
-
Bonnemann, C.G.1
Finkel, R.S.2
-
3
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355:696-702.
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
-
4
-
-
0027769344
-
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies
-
Matsumura K, Ohlendieck K, Ionasescu VV, et al. The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies. Neuromuscul Disord 1993;3:533-535.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 533-535
-
-
Matsumura, K.1
Ohlendieck, K.2
Ionasescu, V.V.3
-
5
-
-
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;78:625-633.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
6
-
-
0028971219
-
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann CG, Modi R, Noguchi S, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
Modi, R.2
Noguchi, S.3
-
7
-
-
0028971221
-
Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995;11:257-265.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
-
8
-
-
0028883973
-
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-822.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
9
-
-
0029816797
-
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
Nigro V, de Sa ME, Piluso G, et al. Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;14:195-198.
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
De Sa, M.E.2
Piluso, G.3
-
10
-
-
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
-
11
-
-
0030951089
-
Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
Eymard B, Romero NB, Leturcq F, et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997;48:1227-1234.
-
(1997)
Neurology
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
Romero, N.B.2
Leturcq, F.3
-
12
-
-
0027484305
-
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries
-
Fardeau M, Matsumura K, Tome FM, et al. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci III 1993;316:799-804.
-
(1993)
C R Acad Sci III
, vol.316
, pp. 799-804
-
-
Fardeau, M.1
Matsumura, K.2
Tome, F.M.3
-
13
-
-
0031811334
-
Homozygous alpha-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient
-
Angelini C, Fanin M, Menegazzo E, et al. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle Nerve 1998;21:769-775.
-
(1998)
Muscle Nerve
, vol.21
, pp. 769-775
-
-
Angelini, C.1
Fanin, M.2
Menegazzo, E.3
-
14
-
-
0036080388
-
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria
-
Mongini T, Doriguzzi C, Bosone I, et al. Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics 2002;33:109-111.
-
(2002)
Neuropediatrics
, vol.33
, pp. 109-111
-
-
Mongini, T.1
Doriguzzi, C.2
Bosone, I.3
-
15
-
-
0037310782
-
Consequences of a novel caveolin-3 mutation in a large German family
-
Fischer D, Schroers A, Blumcke I, et al. Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol 2003;53:233-241.
-
(2003)
Ann Neurol
, vol.53
, pp. 233-241
-
-
Fischer, D.1
Schroers, A.2
Blumcke, I.3
-
16
-
-
0032984212
-
Facioscapulohumeral dystrophy
-
Kissel JT. Facioscapulohumeral dystrophy. Semin Neurol 1999;19:35-43.
-
(1999)
Semin Neurol
, vol.19
, pp. 35-43
-
-
Kissel, J.T.1
-
17
-
-
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, et al. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996;119(pt 1):295-308.
-
(1996)
Brain
, vol.119
, Issue.PART 1
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
-
18
-
-
0030481058
-
Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities
-
Fardeau M, Eymard B, Mignard C, et al. Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities. Neuromuscul Disord 1996;6:447-453.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 447-453
-
-
Fardeau, M.1
Eymard, B.2
Mignard, C.3
-
19
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983;6:469-480.
-
(1983)
Muscle Nerve
, vol.6
, pp. 469-480
-
-
Ben Hamida, M.1
Fardeau, M.2
Attia, N.3
-
20
-
-
0033583984
-
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: A cohort study
-
Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999;353:2116-2119.
-
(1999)
Lancet
, vol.353
, pp. 2116-2119
-
-
Hoogerwaard, E.M.1
Bakker, E.2
Ippel, P.F.3
-
21
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275:1335-1338.
-
(1996)
JAMA
, vol.275
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
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