-
1
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Backer's muscular dystrophy
-
1. Hoffman E P, Fischbeck K H, Brown R H, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Backer's muscular dystrophy. New Engl J Med 1988; 318: 1363-1368.
-
(1988)
New Engl J Med
, vol.318
, pp. 1363-1368
-
-
Hoffman, E.P.1
Fischbeck, K.H.2
Brown, R.H.3
-
2
-
-
0024428185
-
Improved diagnosis of Becker muscular dystrophy by dystrophin testing
-
2. Hoffman E P, Kunkel L M, Angelini C, Clark A, Johnson M A, Harris J B. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 1989; 39: 1011-1017.
-
(1989)
Neurology
, vol.39
, pp. 1011-1017
-
-
Hoffman, E.P.1
Kunkel, L.M.2
Angelini, C.3
Clark, A.4
Johnson, M.A.5
Harris, J.B.6
-
3
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
3. Hoffman E P, Arahata K, Minetti C, Bonilla E, Rowland L P. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992; 42: 967-975.
-
(1992)
Neurology
, vol.42
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
Bonilla, E.4
Rowland, L.P.5
-
4
-
-
0027203989
-
(Trilogy) Integrated study of 100 patients with Xp21-linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. Part 2. Correlations within individual patients. Part 3. Differential diagnosis and prognosis
-
4. Nicholson L V B, Johnson M A, Bushby K M D, et al. (Trilogy) Integrated study of 100 patients with Xp21-linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. Part 2. Correlations within individual patients. Part 3. Differential diagnosis and prognosis. J Med Genet 1993; 30: 728-736, 737-744, 745-751.
-
(1993)
J Med Genet
, vol.30
, pp. 728-736
-
-
Nicholson, L.V.B.1
Johnson, M.A.2
Bushby, K.M.D.3
-
5
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
5. Roberds S L, 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
-
-
0028971221
-
β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
6. Lim L E, Duclos F, Broux O, et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 1995; 11: 257-265.
-
(1995)
Nature Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
-
7
-
-
0028883973
-
Mutations in the dystrophin-associated protein-gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
7. Noguchi S, McNally E M, Othmane K B, 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
Othmane, K.B.3
-
8
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
8. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995; 11: 216-218.
-
(1995)
Nature Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
9
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
9. Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
-
10
-
-
0029334512
-
The limb-girdle muscular dystrophies - Proposal for a new nomenclature
-
30th and 31st ENMC Workshops Report
-
10. Bushby K M D, Beckmann J S. The limb-girdle muscular dystrophies - proposal for a new nomenclature (30th and 31st ENMC Workshops Report). Neuromusc Disord 1995; 5: 337-343.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
11
-
-
0025316225
-
Heterogeneity of dystrophin expression in patients with duchenne and becker muscular dystrophy
-
11. Nicholson L V B, Johnson M A, Gardner-Medwin D, Bhattacharya S, Harris J B. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 1990; 80: 239-250.
-
(1990)
Acta Neuropathol
, vol.80
, pp. 239-250
-
-
Nicholson, L.V.B.1
Johnson, M.A.2
Gardner-Medwin, D.3
Bhattacharya, S.4
Harris, J.B.5
-
13
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
13. Bönnemann C G, Modi R, Noguchi S, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995; 11: 266-273.
-
(1995)
Nature Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
-
14
-
-
0030482285
-
Abnormalities in α-, β-and γ-sarcoglycan in patients with limb-girdle muscular dystrophy
-
14. Sewry C, Taylor J, Andersen L V B, et al. Abnormalities in α-, β-and γ-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord 1996; 6: 467-474.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 467-474
-
-
Sewry, C.1
Taylor, J.2
Andersen, L.V.B.3
-
15
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
15. Tomé F M S, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris 1994; 317: 351-357.
-
(1994)
C R Acad Sci Paris
, vol.317
, pp. 351-357
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
-
16
-
-
0029061267
-
Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
-
16. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995; 5: 301-305.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
17
-
-
0029398648
-
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities
-
17. Sunada Y, Edgar T S, Lotz B P, Rust R S, Campbell K P. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995; 45: 2084-2089.
-
(1995)
Neurology
, vol.45
, pp. 2084-2089
-
-
Sunada, Y.1
Edgar, T.S.2
Lotz, B.P.3
Rust, R.S.4
Campbell, K.P.5
-
18
-
-
0031054624
-
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)
-
in press
-
18. Spencer, M J, Tidball, J G, Anderson, L V B, et al. Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A), J Neurol Sci, in press.
-
J Neurol Sci
-
-
Spencer, M.J.1
Tidball, J.G.2
Anderson, L.V.B.3
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