-
1
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome
-
[1] 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
-
2
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
[2] Tomé FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci 1994;317:351-94.
-
(1994)
C R Acad Sci
, vol.317
, pp. 351-394
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
-
3
-
-
0025373178
-
Merosin, a tissue-specific basement membrane protein, is a laminin-like protein
-
[3] 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;87:3264-8.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3264-3268
-
-
Ehrig, K.1
Leivo, I.2
Argraves, W.S.3
-
4
-
-
0028066764
-
Human laminin M chair (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
-
[4] Voulteenaho R, Nissinen M, Sainio K, et al. Human laminin M chair (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994;124:381-94.
-
(1994)
J Cell Biol
, vol.124
, pp. 381-394
-
-
Voulteenaho, R.1
Nissinen, M.2
Sainio, K.3
-
5
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
[5] Hayashi YK, Engvall E, Harikawa-Hirasawa E, et al. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993;119:53-64.
-
(1993)
J Neurol Sci
, vol.119
, pp. 53-64
-
-
Hayashi, Y.K.1
Engvall, E.2
Harikawa-Hirasawa, E.3
-
6
-
-
0031044984
-
Muscle-eye-brain disease: A neuropathological study
-
[6] Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: A neuropathological study. Ann Neurol 1997;41:173-80.
-
(1997)
Ann Neurol
, vol.41
, pp. 173-180
-
-
Haltia, M.1
Leivo, I.2
Somer, H.3
-
7
-
-
0029055267
-
Preserved merosin M-chain (or Laminin - α2) expression in skeletal muscle distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and merosin-deficient congenital muscular dystrophy
-
[7] Voit T, Sewry CA, Meyer K, et al. Preserved merosin M-chain (or Laminin - α2) expression in skeletal muscle distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995;26:148-55.
-
(1995)
Neuropediatrics
, vol.26
, pp. 148-155
-
-
Voit, T.1
Sewry, C.A.2
Meyer, K.3
-
8
-
-
0029801496
-
Laminin α2 chain (merosin M) is preserved in the Walker-Warburg syndrome
-
[8] Kukner S, Gurer Y, Saatci I, Akcoren Z, Topaloglu H. Laminin α2 chain (merosin M) is preserved in the Walker-Warburg syndrome. Neuropediatrics 1996;27:279-80.
-
(1996)
Neuropediatrics
, vol.27
, pp. 279-280
-
-
Kukner, S.1
Gurer, Y.2
Saatci, I.3
Akcoren, Z.4
Topaloglu, H.5
-
9
-
-
0025217703
-
Detailed analysis of the repeat domain of dystrophin reveals 4 potential hinge regions that may confer flexibility
-
[9] Koenig M, Kunkel LM. Detailed analysis of the repeat domain of dystrophin reveals 4 potential hinge regions that may confer flexibility. J Biol Chem 1990;265:4560-6.
-
(1990)
J Biol Chem
, vol.265
, pp. 4560-4566
-
-
Koenig, M.1
Kunkel, L.M.2
-
10
-
-
0020642887
-
Lissencephaly: Two distinct clinico-pathologic types
-
[10] Dambska H, Wisniewski K, Sher JH. Lissencephaly: Two distinct clinico-pathologic types. Brain Dev 1983;5:302-10.
-
(1983)
Brain Dev
, vol.5
, pp. 302-310
-
-
Dambska, H.1
Wisniewski, K.2
Sher, J.H.3
-
11
-
-
0023079706
-
Developmental aspects of lissencephaly and the lissencephaly syndromes
-
[11] Dobyns WB. Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects 1987;23:225-41.
-
(1987)
Birth Defects
, vol.23
, pp. 225-241
-
-
Dobyns, W.B.1
-
14
-
-
0027314631
-
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome
-
[14] Kimura S, Sasaki Y, Kobayashi T, et al. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Brain Dev 1993;15:182-91.
-
(1993)
Brain Dev
, vol.15
, pp. 182-191
-
-
Kimura, S.1
Sasaki, Y.2
Kobayashi, T.3
-
15
-
-
0029396750
-
Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy)
-
[15] Wewer UM, Durkin ME, Zhang X, et al. Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995;45: 2099-101.
-
(1995)
Neurology
, vol.45
, pp. 2099-2101
-
-
Wewer, U.M.1
Durkin, M.E.2
Zhang, X.3
-
16
-
-
0026440290
-
Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy
-
[16] Yoshioka M, Kuroki S, Nigami H, Kawai T, Nakamura H. Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. Brain Dev 1992;14:334-7.
-
(1992)
Brain Dev
, vol.14
, pp. 334-337
-
-
Yoshioka, M.1
Kuroki, S.2
Nigami, H.3
Kawai, T.4
Nakamura, H.5
-
17
-
-
0028931768
-
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
-
[17] Toda T, Hoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995;37:99-101.
-
(1995)
Ann Neurol
, vol.37
, pp. 99-101
-
-
Toda, T.1
Hoshioka, M.2
Nakahori, Y.3
Kanazawa, I.4
Nakamura, Y.5
Nakagome, Y.6
|