-
2
-
-
0000122091
-
The congenital muscular dystrophies
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill Book
-
Banker BQ. The congenital muscular dystrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology, vol 1. New York: McGraw-Hill Book, 1994:1275-1289
-
(1994)
Myology
, vol.1
, pp. 1275-1289
-
-
Banker, B.Q.1
-
3
-
-
0002618558
-
A peculiar form of congenital progressive muscular dystrophy
-
Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Pediatr Univ Tokyo 1960;4:5-8
-
(1960)
Pediatr Univ Tokyo
, vol.4
, pp. 5-8
-
-
Fukuyama, Y.1
Kawazura, M.2
Haruna, H.3
-
4
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev 1981;13:1-9
-
(1981)
Brain Dev
, vol.13
, pp. 1-9
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
5
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-q33
-
Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-q33. Nature Genet 1993;5:283-286
-
(1993)
Nature Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
-
8
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome
-
Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989;32: 195-210
-
(1989)
Am J Med Genet
, vol.32
, pp. 195-210
-
-
Dobyns, W.B.1
Pagon, R.A.2
Armstrong, D.3
-
9
-
-
0018868593
-
Light and electron microscopic studies of congenital muscular dystrophy
-
Misugi N. Light and electron microscopic studies of congenital muscular dystrophy. Brain Dev 1980;2:191-199
-
(1980)
Brain Dev
, vol.2
, pp. 191-199
-
-
Misugi, N.1
-
10
-
-
0020669289
-
Inflammatory infiltration in Fukuyama type congenital muscular dystrophy
-
Olney KK, Miller RG. Inflammatory infiltration in Fukuyama type congenital muscular dystrophy. Muscle Nerve 1983;6:75-77
-
(1983)
Muscle Nerve
, vol.6
, pp. 75-77
-
-
Olney, K.K.1
Miller, R.G.2
-
12
-
-
0022525211
-
Ten years follow-up study of steroid therapy for congenital encephalomyopathy
-
Kinoshita M, Mishina M, Koya N. Ten years follow-up study of steroid therapy for congenital encephalomyopathy. Brain Dev 1986;8:280-284
-
(1986)
Brain Dev
, vol.8
, pp. 280-284
-
-
Kinoshita, M.1
Mishina, M.2
Koya, N.3
-
15
-
-
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
-
16
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66:1121-1131
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Kp, C.2
-
17
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to 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
-
18
-
-
0026695175
-
Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxyl-terminal domain
-
Suzuki A, Yoshida M, Yamamoto H, Ozawa E. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxyl-terminal domain. FEBS Lett 1992;308:154-160
-
(1992)
FEBS Lett
, vol.308
, pp. 154-160
-
-
Suzuki, A.1
Yoshida, M.2
Yamamoto, H.3
Ozawa, E.4
-
20
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995;80:675-679
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Kp, C.1
-
21
-
-
0025373178
-
Merosin, a tissue-specific basement membrane protein, is a laminin like protein
-
Ehrig K, Leivo I, Argraves WS, et al. Merosin, a tissue-specific basement membrane protein, is a laminin like protein. Proc Natl Acad Sci USA 1990;87:3264-3268
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3264-3268
-
-
Ehrig, K.1
Leivo, I.2
Argraves, W.S.3
-
22
-
-
0018691714
-
Laminin a glycoprotein from basement membranes
-
Timpl R, Rohde H, Gehron Robey P, et al. Laminin a glycoprotein from basement membranes. J Biol Chem 1979;254: 9933-9937
-
(1979)
J Biol Chem
, vol.254
, pp. 9933-9937
-
-
Timpl, R.1
Rohde, H.2
Gehron Robey, P.3
-
23
-
-
0019814244
-
Studies on the biosynthesis of laminin by murine parietal endoderm cells
-
Cooper AR, Kurkinen A, Taylor A, Hogan BLM. Studies on the biosynthesis of laminin by murine parietal endoderm cells. Eur J Biochem 1981;119:189-197
-
(1981)
Eur J Biochem
, vol.119
, pp. 189-197
-
-
Cooper, A.R.1
Kurkinen, A.2
Taylor, A.3
Blm, H.4
-
24
-
-
0028066764
-
Human laminin M chain (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
-
Voulteenaho R, Nissinen M, Sainio K, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994;124:381-394
-
(1994)
J Cell Biol
, vol.124
, pp. 381-394
-
-
Voulteenaho, R.1
Nissinen, M.2
Sainio, K.3
-
26
-
-
0028094441
-
Localization of merosinnegative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Fauré S, et al. Localization of merosinnegative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-1661
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Fauré, S.3
-
27
-
-
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. Nature Genet 1995;11:216-218
-
(1995)
Nature Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
28
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51:919-928
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown, R.H.2
Kunkel, L.M.3
-
29
-
-
0024428185
-
Improved diagnosis of Becker muscular dystrophy by dystrophin testing
-
Hoffman EP, Kunkel LM, Angelini C, et al. 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
-
30
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
31
-
-
0028904169
-
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin competent myonuclei
-
Pegoraro E, Schimke RN, Garcia C, et al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin competent myonuclei. Neurology 1995;45:677-690
-
(1995)
Neurology
, vol.45
, pp. 677-690
-
-
Pegoraro, E.1
Schimke, R.N.2
Garcia, C.3
-
32
-
-
0016207067
-
Ribonucleic acid isolated by cesium chloride centrifugation
-
Glisin VR, Crkvenjadov R, Byus C. Ribonucleic acid isolated by cesium chloride centrifugation. Biochemistry 1974;13: 2633-2637
-
(1974)
Biochemistry
, vol.13
, pp. 2633-2637
-
-
Glisin, V.R.1
Crkvenjadov, R.2
Byus, C.3
-
33
-
-
0028229055
-
Pathophysiology of sodium channelopathies: Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction
-
Zhou J, Hoffman EP. Pathophysiology of sodium channelopathies: studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction. J Biol Chem 1994;269:18563-18571
-
(1994)
J Biol Chem
, vol.269
, pp. 18563-18571
-
-
Zhou, J.1
Hoffman, E.P.2
-
34
-
-
85035185704
-
Adhalinopathies: Complete biochemical deficiency patients are 5% of childhoodonset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations
-
in press
-
Duggan DJ, Fanin M, Pegoraro E, et al. Adhalinopathies: complete biochemical deficiency patients are 5% of childhoodonset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci (in press)
-
J Neurol Sci
-
-
Duggan, D.J.1
Fanin, M.2
Pegoraro, E.3
-
35
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit on nicein/kalinin (laminin-5)
-
Aberdam D, Galliano MF, Vailly J, et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit on nicein/kalinin (laminin-5). Nature Genet 1994;6:299-304
-
(1994)
Nature Genet
, vol.6
, pp. 299-304
-
-
Aberdam, D.1
Galliano, M.F.2
Vailly, J.3
-
36
-
-
0025010542
-
Molecular heterogeneity of basal laminae: Isoform of laminin and collagen IV at the neuromuscular junction and elsewhere
-
Sanes JR, Engvall E, Butkowski R, Hunter DD. Molecular heterogeneity of basal laminae: isoform of laminin and collagen IV at the neuromuscular junction and elsewhere. J Cell Biol 1990;111:1685-1699
-
(1990)
J Cell Biol
, vol.111
, pp. 1685-1699
-
-
Sanes, J.R.1
Engvall, E.2
Butkowski, R.3
Hunter, D.D.4
-
37
-
-
0027222921
-
Laminin variants: Why, where and when?
-
Engvall E. Laminin variants: why, where and when? Kidney Int 1993;43:2-6
-
(1993)
Kidney Int
, vol.43
, pp. 2-6
-
-
Engvall, E.1
-
38
-
-
0023970247
-
Merosin, a protein specific for basement membrane of Schwann cells, striated muscle and trophoblast, is expressed late in nerve and muscle development
-
Leivo I, Engvall E. Merosin, a protein specific for basement membrane of Schwann cells, striated muscle and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci USA 1990;85:1544-1548
-
(1990)
Proc Natl Acad Sci USA
, vol.85
, pp. 1544-1548
-
-
Leivo, I.1
Engvall, E.2
-
39
-
-
0029124239
-
Expression of laminin subunits in human fetal skeletal muscle
-
Sewry CA, Chevallay M, Tomé FMS. Expression of laminin subunits in human fetal skeletal muscle. Histochem J 1995;27: 497-504
-
(1995)
Histochem J
, vol.27
, pp. 497-504
-
-
Sewry, C.A.1
Chevallay, M.2
Tomé, F.M.S.3
-
40
-
-
0025494189
-
Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits
-
Engvall E, Earwicker D, Haaparanta T, et al. Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits. Cell Regul 1990;1:731-740
-
(1990)
Cell Regul
, vol.1
, pp. 731-740
-
-
Engvall, E.1
Earwicker, D.2
Haaparanta, T.3
-
41
-
-
0025358179
-
MR imaging of the brain in five members of a family with Paelizeus-Merzbacher disease
-
Silverstein AM, Hirsh DK, Trobe JD, Gebarski SS. MR imaging of the brain in five members of a family with Paelizeus-Merzbacher disease. Am J Neuroradiol 1990;11:495-499
-
(1990)
Am J Neuroradiol
, vol.11
, pp. 495-499
-
-
Silverstein, A.M.1
Hirsh, D.K.2
Trobe, J.D.3
Gebarski, S.S.4
-
42
-
-
0028788685
-
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
-
Shorer Z, Philpot J, Muntoni F, et al. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995;10:472-475
-
(1995)
J Child Neurol
, vol.10
, pp. 472-475
-
-
Shorer, Z.1
Philpot, J.2
Muntoni, F.3
-
43
-
-
0022628251
-
Anti basement membrane antibodies in the serum of healthy subjects
-
Bernard A, Lauwerys R, Mahieu P, Foidart JM. Anti basement membrane antibodies in the serum of healthy subjects. N Engl J Med 1986;314:1456-1457
-
(1986)
N Engl J Med
, vol.314
, pp. 1456-1457
-
-
Bernard, A.1
Lauwerys, R.2
Mahieu, P.3
Foidart, J.M.4
-
44
-
-
0026024507
-
Antibodies against galactosyl (α → 3) galactose in connective tissue diseases
-
Gabrielli A, Leoni P, Danieli G, et al. Antibodies against galactosyl (α → 3) galactose in connective tissue diseases. Arthritis Rheum 1991;34:375-376
-
(1991)
Arthritis Rheum
, vol.34
, pp. 375-376
-
-
Gabrielli, A.1
Leoni, P.2
Danieli, G.3
|