-
1
-
-
0029129370
-
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy
-
Campbell K. Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy. Ann Neurol 1995;38:353-354.
-
(1995)
Ann Neurol
, vol.38
, pp. 353-354
-
-
Campbell, K.1
-
2
-
-
0029089582
-
Dystrophin associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin associated proteins in muscular dystrophy. Hum Mol Genet 1995;4:1711-1716.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Suzuki, A.3
Mizuno, Y.4
Hagiwara, Y.5
Noguchi, S.6
-
3
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, Moreira ED, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996;14:195-198.
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
Moreira, E.D.2
Piluso, G.3
-
4
-
-
10544235436
-
Caracterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
-
Jung D, Duclos F, Apostol B, et al. Caracterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996;271:32321-32329.
-
(1996)
J Biol Chem
, vol.271
, pp. 32321-32329
-
-
Jung, D.1
Duclos, F.2
Apostol, B.3
-
5
-
-
0026757138
-
Deficiency of the 50K-dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tomé FMS, Collin H, et al. Deficiency of the 50K-dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992;59: 320-322.
-
(1992)
Nature
, vol.59
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Collin, H.3
-
6
-
-
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
-
7
-
-
0025630428
-
Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy
-
Ben Jelloun-Dellagi S, Chaffey P, Hentati F, et al. Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology 1990;40:1903.
-
(1990)
Neurology
, vol.40
, pp. 1903
-
-
Ben Jelloun-Dellagi, S.1
Chaffey, P.2
Hentati, F.3
-
8
-
-
0027484305
-
Deficiency of the 50kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries
-
Fardeau M, Matsumura K, Tomé FMS, et al. Deficiency of the 50kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci Paris 1993;316:799-804.
-
(1993)
C R Acad Sci Paris
, vol.316
, pp. 799-804
-
-
Fardeau, M.1
Matsumura, K.2
Tomé, F.M.S.3
-
9
-
-
0028012859
-
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
-
Romero NB, Tomé FMS, Leturcq F, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C R Acad Sci Paris 1994;317:70-76.
-
(1994)
C R Acad Sci Paris
, vol.317
, pp. 70-76
-
-
Romero, N.B.1
Tomé, F.M.S.2
Leturcq, F.3
-
10
-
-
9044223654
-
Clinical heterogeneity of adhalin deficiency
-
Morandi L, Barresi R, Di Blasi C, et al. Clinical heterogeneity of adhalin deficiency. Ann Neurol 1996;39:196-202.
-
(1996)
Ann Neurol
, vol.39
, pp. 196-202
-
-
Morandi, L.1
Barresi, R.2
Di Blasi, C.3
-
11
-
-
0027484535
-
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50-DAG analysis
-
Passos-Bueno MR, Oliveira JR, Bakker E, et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50-DAG analysis. Hum Mol Genet 1993; 11:1945-1947.
-
(1993)
Hum Mol Genet
, vol.11
, pp. 1945-1947
-
-
Passos-Bueno, M.R.1
Oliveira, J.R.2
Bakker, E.3
-
12
-
-
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;4:1163-1167.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1163-1167
-
-
Passos Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
-
13
-
-
0028204126
-
Deficiency of the 50kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two South Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy
-
Sewry CA, Sansome A, Matsumura K, et al. Deficiency of the 50kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two South Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. Neuromuscul Disord 1994;4:121-129.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 121-129
-
-
Sewry, C.A.1
Sansome, A.2
Matsumura, K.3
-
14
-
-
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: 1202-1207.
-
(1995)
J Clin Invest
, vol.96
, pp. 1202-1207
-
-
Kawai, H.1
Akaike, M.2
Endo, T.3
-
15
-
-
0029046994
-
The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: Immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin
-
Hayashi YK, Mizuno Y, Yoshida M, Nonaka I, Ozawa E, Arahata K. The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology 1995;45:551-554.
-
(1995)
Neurology
, vol.45
, pp. 551-554
-
-
Hayashi, Y.K.1
Mizuno, Y.2
Yoshida, M.3
Nonaka, I.4
Ozawa, E.5
Arahata, K.6
-
16
-
-
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 MA, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315-317.
-
(1992)
Nat Genet
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
-
17
-
-
0027171297
-
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50kDa dystrophin-associated glycoprotein maps to chromosome 13q12
-
Azibi K, Bachner L, Beckmann J, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet 1993;2:1423-1428.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1423-1428
-
-
Azibi, K.1
Bachner, L.2
Beckmann, J.3
-
18
-
-
0027361264
-
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
-
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993;268:23739-23742.
-
(1993)
J Biol Chem
, vol.268
, pp. 23739-23742
-
-
Roberds, S.L.1
Anderson, R.D.2
Ibraghimov-Beskrovnaya, O.3
Campbell, K.P.4
-
19
-
-
0028146869
-
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50kDa dystrophin associated glycoprotein) deficiency
-
Roberds SL, Leturcq F, Allamand V, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50kDa dystrophin associated glycoprotein) deficiency. Cell 1994;78:625-633.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
20
-
-
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;10:243-245.
-
(1995)
Nat Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
-
21
-
-
0029164775
-
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
-
Ljunggren A, Duggan D, McNally E, et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995;38:367-372.
-
(1995)
Ann Neurol
, vol.38
, pp. 367-372
-
-
Ljunggren, A.1
Duggan, D.2
McNally, E.3
-
22
-
-
0028971221
-
β-sarcoglycan: Characterization and role in the limb-girdle dystrophy linked to 4q12
-
Lim E, Duclos F, Broux O, et al. β-sarcoglycan: characterization and role in the limb-girdle dystrophy linked to 4q12. Nat Genet 1995;11:257-265.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, E.1
Duclos, F.2
Broux, O.3
-
23
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bönneman 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;11:266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bönneman, C.G.1
Modi, R.2
Noguchi, S.3
-
24
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally E, Ben Othmane, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-821.
-
(1995)
Science
, vol.270
, pp. 819-821
-
-
Noguchi, S.1
McNally, E.2
Ben Othmane3
-
25
-
-
0002670572
-
The clinical examination of the voluntary muscles
-
Walton JN, ed. Edinburgh and London: Churchill-Livingstone
-
Gardner-Medwin D, Walton JN. The clinical examination of the voluntary muscles. In: Walton JN, ed. Disorders of voluntary muscles. Edinburgh and London: Churchill-Livingstone, 1974:517-560.
-
(1974)
Disorders of Voluntary Muscles
, pp. 517-560
-
-
Gardner-Medwin, D.1
Walton, J.N.2
-
26
-
-
18544402590
-
Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
-
Jung D, Leturcq F, Sunada, 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
Sunada3
-
27
-
-
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;119:295-308.
-
(1996)
Brain
, vol.119
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
-
28
-
-
0024455248
-
Familial-X linked myalgia and cramps associated: A non progressive myopathy associated with a deletion in the dystrophin gene
-
Gospe SM, Lazaro RP, Lava NS, et al. Familial-X linked myalgia and cramps associated: a non progressive myopathy associated with a deletion in the dystrophin gene. Neurology 1989;39:1277-1280.
-
(1989)
Neurology
, vol.39
, pp. 1277-1280
-
-
Gospe, S.M.1
Lazaro, R.P.2
Lava, N.S.3
|