-
1
-
-
0000122091
-
The congenital muscular dystrophies
-
A.G. Engel, & C. Franzini-Amstrong. New York: McGraw-Hill
-
Banker B.Q. The congenital muscular dystrophies. Engel A.G., Franzini-Amstrong C. Myology, 2. 2nd ed. 1994;1275-1289 McGraw-Hill, New York.
-
(1994)
Myology, 2 2nd Ed.
, pp. 1275-1289
-
-
Banker, B.Q.1
-
2
-
-
0001960683
-
Congenital myopathies
-
F.L. Mastaglia, & L.W.O. Detchant. Edinburgh: Churchill Livingstone
-
Fardeau M. Congenital myopathies. Mastaglia F.L., Detchant L.W.O. Skeletal muscle pathology. 2nd ed. 1992;237-281 Churchill Livingstone, Edinburgh.
-
(1992)
Skeletal muscle pathology 2nd ed.
, pp. 237-281
-
-
Fardeau, M.1
-
3
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A., Zhang X., Topaloglu H., et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 11:1995;216-218.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
4
-
-
0029883979
-
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein
-
Nissinen M., Helbling-Leclerc A., Zhang X., et al. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet. 58:1996;1177-1184.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1177-1184
-
-
Nissinen, M.1
Helbling-Leclerc, A.2
Zhang, X.3
-
5
-
-
8244233831
-
Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain
-
Allamand V., Sunada Y., Salih M.A.M., et al. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain. Hum Mol Genet. 6:1997;747-752.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 747-752
-
-
Allamand, V.1
Sunada, Y.2
Salih, M.A.M.3
-
7
-
-
0000186844
-
Dystrophia muscularis: A hereditary primary myopathy in the mouse
-
Michelson A.M., Russell E., Harman P.G. Dystrophia muscularis: a hereditary primary myopathy in the mouse. Proc Natl Acad Sci USA. 41:1955;1079-1084.
-
(1955)
Proc Natl Acad Sci USA
, vol.41
, pp. 1079-1084
-
-
Michelson, A.M.1
Russell, E.2
Harman, P.G.3
-
8
-
-
0014936580
-
Muscular dystrophy in the mouse caused by an allele at the dy locus
-
Meier H., Southard J.L. Muscular dystrophy in the mouse caused by an allele at the dy locus. Life Sci. 9:1970;137-144.
-
(1970)
Life Sci
, vol.9
, pp. 137-144
-
-
Meier, H.1
Southard, J.L.2
-
9
-
-
85008070304
-
Laminin in animal models for muscular dystrophy: Defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice
-
Arahata K., Hayashi Y.K., Koga R., et al. Laminin in animal models for muscular dystrophy: defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Jpn Acad. 69:1993;259-264.
-
(1993)
Proc Jpn Acad
, vol.69
, pp. 259-264
-
-
Arahata, K.1
Hayashi, Y.K.2
Koga, R.3
-
10
-
-
0028318185
-
Deficiency of merosin in dystrophic dy mice and genetic linkage of the laminin M chain gene to the dy locus
-
Sunada Y., Bernier S.M., Kozak C.A., Yamada Y., Campbell K.P. Deficiency of merosin in dystrophic dy mice and genetic linkage of the laminin M chain gene to the dy locus. J Biol Chem. 269:1994;13729-13732.
-
(1994)
J Biol Chem
, vol.269
, pp. 13729-13732
-
-
Sunada, Y.1
Bernier, S.M.2
Kozak, C.A.3
Yamada, Y.4
Campbell, K.P.5
-
11
-
-
0028334735
-
Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse
-
Xu H., Christmas P., Wu X.-R., Wewer U.M., Engvall E. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA. 91:1994;5572-5576.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5572-5576
-
-
Xu, H.1
Christmas, P.2
Wu, X.-R.3
Wewer, U.M.4
Engvall, E.5
-
12
-
-
0028135436
-
Murine muscular dystrophy caused by a mutation in the laminin α2 (LAMA2) gene
-
Xu H., Wu X.R., Wewer U.M., Engvall E. Murine muscular dystrophy caused by a mutation in the laminin α2 (LAMA2) gene. Nat Genet. 8:1994;297-302.
-
(1994)
Nat Genet
, vol.8
, pp. 297-302
-
-
Xu, H.1
Wu, X.R.2
Wewer, U.M.3
Engvall, E.4
-
14
-
-
0030610896
-
Laminin a2 chain-null mutant mice by targeted disruption of the LAMA2 gene: A new model of merosin (laminin 2)-deficient congenital muscular dystrophy
-
Miyagoe Y., Hanaoka K., Nonaka I., et al. Laminin a2 chain-null mutant mice by targeted disruption of the LAMA2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Lett. 415:1997;33-39.
-
(1997)
FEBS Lett
, vol.415
, pp. 33-39
-
-
Miyagoe, Y.1
Hanaoka, K.2
Nonaka, I.3
-
15
-
-
0032528845
-
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models
-
Kuang W., Vachon P.H., Liu L., Loechel F., Wewer U.M., Engvall E. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. J Clin Invest. 102:1998;844-852.
-
(1998)
J Clin Invest
, vol.102
, pp. 844-852
-
-
Kuang, W.1
Vachon, P.H.2
Liu, L.3
Loechel, F.4
Wewer, U.M.5
Engvall, E.6
-
16
-
-
0025373178
-
Merosin, a tissue-specific basement membrane protein, is a laminin-like protein
-
Ehrig K., Leivo I., Argraves W.S., Ruoslahti E., Engvall E. Merosin, a tissue-specific basement membrane protein, is a laminin-like protein. Proc Natl Acad Sci USA. 87:1990;3264-3268.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3264-3268
-
-
Ehrig, K.1
Leivo, I.2
Argraves, W.S.3
Ruoslahti, E.4
Engvall, E.5
-
17
-
-
0028608819
-
Human laminin M chain: Epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression
-
Hori H., Kaa T., Mizuta T., Yamaguchu N., Liu Y., Nagai Y. Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression. J Biochem. 116:1994;1212-1219.
-
(1994)
J Biochem
, vol.116
, pp. 1212-1219
-
-
Hori, H.1
Kaa, T.2
Mizuta, T.3
Yamaguchu, N.4
Liu, Y.5
Nagai, Y.6
-
18
-
-
0017148259
-
A general method for isolation of high molecular weight DNA from eukaryotes
-
Blin N., Stafford D.W. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. 3:1976;2303-2308.
-
(1976)
Nucleic Acids Res
, vol.3
, pp. 2303-2308
-
-
Blin, N.1
Stafford, D.W.2
-
19
-
-
13344287050
-
A comprehensive genetic map of the mouse genome
-
Dietrich W.F., Miller J., Steen R., et al. A comprehensive genetic map of the mouse genome. Nature. 380:1996;149-152.
-
(1996)
Nature
, vol.380
, pp. 149-152
-
-
Dietrich, W.F.1
Miller, J.2
Steen, R.3
-
20
-
-
0027355585
-
A Macintosh program for storage and analysis of experimental genetic mapping data
-
Manly K.F. A Macintosh program for storage and analysis of experimental genetic mapping data. Mamm Gen. 4:1993;303-313.
-
(1993)
Mamm Gen
, vol.4
, pp. 303-313
-
-
Manly, K.F.1
-
21
-
-
0029861622
-
Structure of the human laminin a2-chain gene (LAMA2), which is affected in congenital muscular dystrophy
-
Zhang X., Vuolteenaho R., Tryggvason K. Structure of the human laminin a2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. J Biol Chem. 271:1996;27664-27669.
-
(1996)
J Biol Chem
, vol.271
, pp. 27664-27669
-
-
Zhang, X.1
Vuolteenaho, R.2
Tryggvason, K.3
-
22
-
-
0019629257
-
Some evidence for concurrent involvement of the fore- and hindleg muscles in murine muscular dystrophy
-
Totsuka T., Watanabe K. Some evidence for concurrent involvement of the fore- and hindleg muscles in murine muscular dystrophy. Jikken Dobutsu. 30:1981;465-470.
-
(1981)
Jikken Dobutsu
, vol.30
, pp. 465-470
-
-
Totsuka, T.1
Watanabe, K.2
-
23
-
-
0017553980
-
Myopathies caused by three mutations of the mouse
-
Meier H., MacPike A.D. Myopathies caused by three mutations of the mouse. J Hered. 68:1977;383-385.
-
(1977)
J Hered
, vol.68
, pp. 383-385
-
-
Meier, H.1
MacPike, A.D.2
-
24
-
-
0023867459
-
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
-
Kazazian H.H.J., Wong C., Youssoufian H., Scott A.F., Phillips D.G., Antonarakis S.E. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature. 332:1988;164-166.
-
(1988)
Nature
, vol.332
, pp. 164-166
-
-
Kazazian, H.H.J.1
Wong, C.2
Youssoufian, H.3
Scott, A.F.4
Phillips, D.G.5
Antonarakis, S.E.6
-
25
-
-
0027258342
-
Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
-
Narita N., Nishio H., Kitoh Y., et al. Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest. 91:1993;1862-1867.
-
(1993)
J Clin Invest
, vol.91
, pp. 1862-1867
-
-
Narita, N.1
Nishio, H.2
Kitoh, Y.3
-
26
-
-
0030893619
-
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy
-
Konda-Iida E., Saito K., Tanaka H., et al. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet. 99:1997;427-432.
-
(1997)
Hum Genet
, vol.99
, pp. 427-432
-
-
Konda-Iida, E.1
Saito, K.2
Tanaka, H.3
-
27
-
-
0028175530
-
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion
-
Kingsmore S.F., Giros B., Suh D., Bieniarz M., Caron M.G., Seldin M.F. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet. 7:1994;143-148.
-
(1994)
Nat Genet
, vol.7
, pp. 143-148
-
-
Kingsmore, S.F.1
Giros, B.2
Suh, D.3
Bieniarz, M.4
Caron, M.G.5
Seldin, M.F.6
-
28
-
-
0027996651
-
The spastic mouse: Aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element
-
Mulhardt C., Fischer M., Gass P., et al. The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron. 13:1994;1003-1015.
-
(1994)
Neuron
, vol.13
, pp. 1003-1015
-
-
Mulhardt, C.1
Fischer, M.2
Gass, P.3
-
29
-
-
0020546868
-
Intracisternal A-particle genes as movable elements in the mouse genome
-
Kuff E.L., Feenstra A., Lueders K., et al. Intracisternal A-particle genes as movable elements in the mouse genome. Proc Natl Acad Sci USA. 80:1983;1992-1996.
-
(1983)
Proc Natl Acad Sci USA
, vol.80
, pp. 1992-1996
-
-
Kuff, E.L.1
Feenstra, A.2
Lueders, K.3
-
30
-
-
0024254164
-
The intracisternal A-particle gene family: Structure and functional aspects
-
Kuff E.L., Lueders K.K. The intracisternal A-particle gene family: structure and functional aspects. Adv Cancer Rev. 93:1988;183-276.
-
(1988)
Adv Cancer Rev
, vol.93
, pp. 183-276
-
-
Kuff, E.L.1
Lueders, K.K.2
-
31
-
-
0019495913
-
Terminally redundant sequences in cellular intracisternal A-particle genes
-
Cole M.D., Ono M., Huang R.C. Terminally redundant sequences in cellular intracisternal A-particle genes. J Virol. 38:1981;680-687.
-
(1981)
J Virol
, vol.38
, pp. 680-687
-
-
Cole, M.D.1
Ono, M.2
Huang, R.C.3
-
32
-
-
0017696566
-
Sequences associated with intracisternal A particles are reiterated in the mouse genome
-
Lueders K., Kuff E.L. Sequences associated with intracisternal A particles are reiterated in the mouse genome. Cell. 12:1977;963-972.
-
(1977)
Cell
, vol.12
, pp. 963-972
-
-
Lueders, K.1
Kuff, E.L.2
-
33
-
-
0342910806
-
Intracisternal A-particle genes: Identification in the genome of Mus musculus and comparison of multiple isolates from a mouse gene library
-
Lueders K., Kuff E.L. Intracisternal A-particle genes: identification in the genome of Mus musculus and comparison of multiple isolates from a mouse gene library. Proc Natl Acad Sci USA. 77:1980;3571-3575.
-
(1980)
Proc Natl Acad Sci USA
, vol.77
, pp. 3571-3575
-
-
Lueders, K.1
Kuff, E.L.2
-
34
-
-
0018942755
-
Sequence organization of cloned intracisternal A particle genes
-
Ono M., Cole M.D., White A.T., Huang R.C. Sequence organization of cloned intracisternal A particle genes. Cell. 21:1980;465-473.
-
(1980)
Cell
, vol.21
, pp. 465-473
-
-
Ono, M.1
Cole, M.D.2
White, A.T.3
Huang, R.C.4
-
35
-
-
0345639921
-
Mutant immunoglobulin genes have repetitive DNA elements inserted into their intervening sequences
-
Hawley R.G., Shulman M.J., Murialdo H., Gibson D.M., Hozumi N. Mutant immunoglobulin genes have repetitive DNA elements inserted into their intervening sequences. Proc Natl Acad Sci USA. 79:1982;7425-7429.
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, pp. 7425-7429
-
-
Hawley, R.G.1
Shulman, M.J.2
Murialdo, H.3
Gibson, D.M.4
Hozumi, N.5
-
36
-
-
0031020025
-
Inherited somatic mosaicism caused by an intracisternal A particle insertion in the mouse tyrosinase gene
-
Wu M., Rinchik E.M., Wilkinson E., Johnson D.K. Inherited somatic mosaicism caused by an intracisternal A particle insertion in the mouse tyrosinase gene. Proc Natl Acad Sci USA. 94:1997;890-894.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 890-894
-
-
Wu, M.1
Rinchik, E.M.2
Wilkinson, E.3
Johnson, D.K.4
-
37
-
-
0033061834
-
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
-
Johnson K.R., Cook S.A., Erway L.C., et al. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet. 8:1999;645-653.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 645-653
-
-
Johnson, K.R.1
Cook, S.A.2
Erway, L.C.3
-
38
-
-
0033581703
-
The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers
-
Colognato H., Yurchenco P.D. The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers. Curr Biol. 9:1999;1327-1330.
-
(1999)
Curr Biol
, vol.9
, pp. 1327-1330
-
-
Colognato, H.1
Yurchenco, P.D.2
|