-
1
-
-
0028947998
-
Syntrophin binds to an alternatively spliced exon of dystrophin
-
Ahn AH, Kunkel LM: Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol 1995;128:363-371.
-
(1995)
J Cell Biol
, vol.128
, pp. 363-371
-
-
Ahn, A.H.1
Kunkel, L.M.2
-
2
-
-
0028572432
-
Adhalin gene polymorphism
-
Allamand V, Leturcq F, Piccolo F, Jeanpierre M, Azibi K, Roberds SL, Lim LE, Campbell KP, Beckmann JS, Kaplan JC: Adhalin gene polymorphism. Hum Mol Genet 1994;3:2269.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2269
-
-
Allamand, V.1
Leturcq, F.2
Piccolo, F.3
Jeanpierre, M.4
Azibi, K.5
Roberds, S.L.6
Lim, L.E.7
Campbell, K.P.8
Beckmann, J.S.9
Kaplan, J.C.10
-
3
-
-
0024432114
-
Dystrophin diagnosis: Comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses
-
Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H: Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci USA 1989;86:7154-7158.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7154-7158
-
-
Arahata, K.1
Hoffman, E.P.2
Kunkel, L.M.3
Ishiura, S.4
Tsukahara, T.5
Ishihara, T.6
Sunohara, N.7
Nonaka, I.8
Ozawa, E.9
Sugita, H.10
-
4
-
-
0023877613
-
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
-
Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H: Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 1988;333:861-863.
-
(1988)
Nature
, vol.333
, pp. 861-863
-
-
Arahata, K.1
Ishiura, S.2
Ishiguro, T.3
Tsukahara, T.4
Suhara, Y.5
Eguchi, C.6
Ishihara, T.7
Nonaka, I.8
Ozawa, E.9
Sugita, H.10
-
5
-
-
0027171297
-
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
-
Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, Vinet M-C, Leturcq F, Collin H, Tomé FMS, Reghis A, Fadeau M, Campbell KP, Kaplan J-C: Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa 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.S.3
Matsumura, K.4
Hamouda, E.5
Chaouch, M.6
Chaouch, A.7
Ait-Ouarab, R.8
Vignal, A.9
Weissenbach, J.10
Vinet, M.-C.11
Leturcq, F.12
Collin, H.13
Tomé, F.M.S.14
Reghis, A.15
Fadeau, M.16
Campbell, K.P.17
Kaplan, J.-C.18
-
6
-
-
0025969494
-
DMD carrier detection in a female with mosaic Turner's syndrome
-
Baiget M, Tizzano E, Volpini V, del Rio E, Perez-Vidal T, Gallano P: DMD carrier detection in a female with mosaic Turner's syndrome. J Med Genet 1991;28:209-210.
-
(1991)
J Med Genet
, vol.28
, pp. 209-210
-
-
Baiget, M.1
Tizzano, E.2
Volpini, V.3
Del Rio, E.4
Perez-Vidal, T.5
Gallano, P.6
-
7
-
-
0029881003
-
A novel splice site mutation in a Becker muscular dystrophy patient
-
Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AHM, Hall CD, Mendell JR, Prior TW: A novel splice site mutation in a Becker muscular dystrophy patient. J Med Genet 1996;33:324-327.
-
(1996)
J Med Genet
, vol.33
, pp. 324-327
-
-
Bartolo, C.1
Papp, A.C.2
Snyder, P.J.3
Sedra, M.S.4
Burghes, A.H.M.5
Hall, C.D.6
Mendell, J.R.7
Prior, T.W.8
-
8
-
-
0000180227
-
Eine neue X-chromosomale Muskeldystrophie
-
Becker PE, Kiener F: Eine neue X-chromosomale Muskeldystrophie. Arch Psychiat-Z Neurol 1955;193:427-448.
-
(1955)
Arch Psychiat-Z Neurol
, vol.193
, pp. 427-448
-
-
Becker, P.E.1
Kiener, F.2
-
9
-
-
0015446156
-
Neues zur Genetik und Klassifikation der Muskeldystrophien
-
Becker PE: Neues zur Genetik und Klassifikation der Muskeldystrophien. Humangenetik 1972;17:1-22.
-
(1972)
Humangenetik
, vol.17
, pp. 1-22
-
-
Becker, P.E.1
-
10
-
-
0030055567
-
Genetic studies and molecular structures: The dystrophin associated complex
-
Beckmann JS: Genetic studies and molecular structures: the dystrophin associated complex. Hum Mol Genet 1996;5:865-867.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 865-867
-
-
Beckmann, J.S.1
-
11
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
-
Beggs AH, Huffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991;49:54-67.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 54-67
-
-
Beggs, A.H.1
Huffman, E.P.2
Snyder, J.R.3
Arahata, K.4
Specht, L.5
Shapiro, F.6
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
-
12
-
-
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
-
13
-
-
0018992719
-
Dystrophie musculaire progressive de type Duchenne en Tunisie. A propos de 13 familles et 31 cas d'une forme en apparence récessive autosomique
-
Ben Hamida M, Marrakchi D: Dystrophie musculaire progressive de type Duchenne en Tunisie. A propos de 13 familles et 31 cas d'une forme en apparence récessive autosomique. J Genet Hum 1980;28:1-9.
-
(1980)
J Genet Hum
, vol.28
, pp. 1-9
-
-
Ben Hamida, M.1
Marrakchi, D.2
-
14
-
-
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, Homida CB, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, Hentati F, Vance JM: 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
Homida, C.B.4
Blel, S.5
Carter, S.C.6
Bowcock, A.M.7
Petruhkin, K.8
Gilliam, T.C.9
Roses, A.D.10
Hentati, F.11
Vance, J.M.12
-
15
-
-
0029881574
-
Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein
-
Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE: Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. J Biol Chem 1996;271:7802-7810.
-
(1996)
J Biol Chem
, vol.271
, pp. 7802-7810
-
-
Blake, D.J.1
Nawrotzki, R.2
Peters, M.F.3
Froehner, S.C.4
Davies, K.E.5
-
16
-
-
0025719080
-
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
-
Blonden LAJ, Grootscholten PM, den Dunnen JT, Bakker E, Abbs S, Bobrow M, Boehm C, ran Broeckhoven C, Baumbach L, Chamberlain J, Caskey CT, Denton M, Felicetti L, Galluzi G, Fischbeck KH, Francke U, Darras B, Gilgenkrantz H, Kaplan J-C, Herrmann FH.Junien C, Boileau C, Liechti-Gallati S, Lindlöf M, Matsumoto T, Niikawa N, Mūller CR, Poncin J, Malcolm S, Robertson E, Romeo G, Covone AE, Scheffer H, Schrōder E, Schwanz M, Verellen C, Walker A, Worton R, Gillard E, van Ommen GJB: 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. Genomics 1991;10:631-639.
-
(1991)
Genomics
, vol.10
, pp. 631-639
-
-
Blonden, L.A.J.1
Grootscholten, P.M.2
Den Dunnen, J.T.3
Bakker, E.4
Abbs, S.5
Bobrow, M.6
Boehm, C.7
Ran Broeckhoven, C.8
Baumbach, L.9
Chamberlain, J.10
Caskey, C.T.11
Denton, M.12
Felicetti, L.13
Galluzi, G.14
Fischbeck, K.H.15
Francke, U.16
Darras, B.17
Gilgenkrantz, H.18
Kaplan, J.-C.19
Herrmann, F.H.20
Junien, C.21
Boileau, C.22
Liechti-Gallati, S.23
Lindlöf, M.24
Matsumoto, T.25
Niikawa, N.26
Muller, C.R.27
Poncin, J.28
Malcolm, S.29
Robertson, E.30
Romeo, G.31
Covone, A.E.32
Scheffer, H.33
Schroder, E.34
Schwanz, M.35
Verellen, C.36
Walker, A.37
Worton, R.38
Gillard, E.39
Van Ommen, G.J.B.40
more..
-
17
-
-
0023718395
-
Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface
-
Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Huffman EP, Rowland LP: Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 1988;54:447-452.
-
(1988)
Cell
, vol.54
, pp. 447-452
-
-
Bonilla, E.1
Samitt, C.E.2
Miranda, A.F.3
Hays, A.P.4
Salviati, G.5
DiMauro, S.6
Kunkel, L.M.7
Huffman, E.P.8
Rowland, L.P.9
-
18
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
B̈nnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Huffman EP, Ozawa E, Kunkel LM: 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
-
-
B̈nnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
McNally, E.M.7
Duggan, D.J.8
Angelini, C.9
Huffman, E.P.10
Ozawa, E.11
Kunkel, L.M.12
-
19
-
-
10544252688
-
Genomic screening for βsarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
-
B̈nnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM: Genomic screening for βsarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996;5:1953-1961.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1953-1961
-
-
B̈nnemann, C.G.1
Passos-Bueno, M.R.2
McNally, E.M.3
Vainzof, M.4
De Sá Moreira, E.5
Marie, S.K.6
Pavanello, R.C.M.7
Noguchi, S.8
Ozawa, E.9
Zatz, M.10
Kunkel, L.M.11
-
20
-
-
0026063851
-
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- And carboxy-terrninal antisera specific for dystrophin
-
Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, Worton RG, Ray PN: Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terrninal antisera specific for dystrophin. Am J Hum Genet 1991;48:295-304.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 295-304
-
-
Bulman, D.E.1
Murphy, E.G.2
Zubrzycka-Gaarn, E.E.3
Worton, R.G.4
Ray, P.N.5
-
21
-
-
0029334512
-
The limb-girdle muscular dystrophies - Proposal for a new nomenclature
-
30th and 31st ENMC International Workshops, Naarden, The Netherlands, held 6-8 January 1995
-
Bushby KMD, Beckmann JS: The limb-girdle muscular dystrophies - proposal for a new nomenclature. 30th and 31st ENMC International Workshops, Naarden, The Netherlands, held 6-8 January 1995. Neuromusc Disord 1995;5:337-343.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
22
-
-
26844564434
-
Zur Lehre von der Dystrophia muscularis progressiv
-
Jan.
-
Buss O: Zur Lehre von der Dystrophia muscularis progressiv. Berl Klin Wochnschr 1887:Jan. 24:49-53.
-
(1887)
Berl Klin Wochnschr
, vol.24
, pp. 49-53
-
-
Buss, O.1
-
23
-
-
0024600620
-
Association of dystrophin and integral membrane glycoprotein
-
Campbell KP, Kahl SD: Association of dystrophin and integral membrane glycoprotein. Nature 1989;338:259-262.
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
24
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nud Acids Res 1988;16:11141-11156.
-
(1988)
Nud Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
|