-
1
-
-
0026808880
-
Serial MRI in Fukuyama type, congenital muscular dystrophy
-
Aihara, M., Y. Tanabe, K. Kato: Serial MRI in Fukuyama type, congenital muscular dystrophy. Neuroradiology 34 (1992) 396-398
-
(1992)
Neuroradiology
, vol.34
, pp. 396-398
-
-
Aihara, M.1
Tanabe, Y.2
Kato, K.3
-
2
-
-
0021086363
-
The Pena-Shokeir snydrome: Report of five cases and further delineation of the syndrome
-
Chen, H., B. Blumberg, L. Immken, R. Lachman, D. Riglthnire, M. Fowler et al: The Pena-Shokeir snydrome: Report of five cases and further delineation of the syndrome. Am J. Med. Genet. 16 (1983) 213-214
-
(1983)
Am J. Med. Genet.
, vol.16
, pp. 213-214
-
-
Chen, H.1
Blumberg, B.2
Immken, L.3
Lachman, R.4
Riglthnire, D.5
Fowler, M.6
-
3
-
-
0029010027
-
Muscle imaging in health and disease
-
Clague, J. E., N. Roberts, H. Gibson, R, H. T. Edwards: Muscle imaging in health and disease. Neuromusc. Disord. 5 (1995) 171-178
-
(1995)
Neuromusc. Disord.
, vol.5
, pp. 171-178
-
-
Clague, J.E.1
Roberts, N.2
Gibson, H.3
Edwards, R.H.T.4
-
4
-
-
0020260737
-
Cerebro-oculo-muscular syndrome
-
Dambska, M., K. Wisnieioski, J. Sher, C. Solish: Cerebro-oculo-muscular syndrome Clin. Neuropathol. 1 (1982) 93-98
-
(1982)
Clin. Neuropathol.
, vol.1
, pp. 93-98
-
-
Dambska, M.1
Wisnieioski, K.2
Sher, J.3
Solish, C.4
-
5
-
-
0021972775
-
Syndromes with lissenrephaly. II. Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly
-
Dobyns, W. B., J. B. Kirkpatrick, H. M. Hittner, R. M. Roberts, F. L. Kretzer: Syndromes with lissenrephaly. II. Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly. Am. J Med Genet. 22 (1985) 157-195
-
(1985)
Am. J Med Genet.
, vol.22
, pp. 157-195
-
-
Dobyns, W.B.1
Kirkpatrick, J.B.2
Hittner, H.M.3
Roberts, R.M.4
Kretzer, F.L.5
-
6
-
-
0024539092
-
Diagnostic criteria for Walker Warburg syndrome
-
Dobyns, W. B., R. A. Pagon, D. Armstrong, C. J. R. Curry, F. Greenberg, A. Grix et al: Diagnostic criteria for Walker Warburg syndrome. Am. J. Med. Genet. 32 (1989) 195-210
-
(1989)
Am. J. Med. Genet.
, vol.32
, pp. 195-210
-
-
Dobyns, W.B.1
Pagon, R.A.2
Armstrong, D.3
Curry, C.J.R.4
Greenberg, F.5
Grix, A.6
-
7
-
-
0025298178
-
Regarding Walker-Warburg syndrome and muscle-eye-brain disease
-
Dobyns, W. B., R. A. Pagon, C. J. R. Curry, F. Greenberg: Regarding Walker-Warburg syndrome and muscle-eye-brain disease (Letter to the editor, response to Santavuon et al). Am. J. Med. Genet 36 (1990) 373-374
-
(1990)
Am. J. Med. Genet
, vol.36
, pp. 373-374
-
-
Dobyns, W.B.1
Pagon, R.A.2
Curry, C.J.R.3
Greenberg, F.4
-
9
-
-
0027954337
-
Workshop Report, 22nd ENMC Workshop on Congenital Muscular Dystrophy, Baarn, May 1993
-
Dubowitz, V.: Workshop Report, 22nd ENMC Workshop on Congenital Muscular Dystrophy, Baarn, May 1993. Neuromuse Disord. 4 (1994) 75-81
-
(1994)
Neuromuse Disord.
, vol.4
, pp. 75-81
-
-
Dubowitz, V.1
-
10
-
-
0001849317
-
Congenital muscular dystrophy
-
Emery, A. E. H. (Ed.): Baarn, ENMC
-
Dubowitz, V.: Congenital muscular dystrophy. In: Emery, A. E. H. (Ed.): Diagnostic Criteria for Neuromuscular Disorders. Baarn, ENMC (1994) 32-34
-
(1994)
Diagnostic Criteria for Neuromuscular Disorders
, pp. 32-34
-
-
Dubowitz, V.1
-
12
-
-
0029060893
-
Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy, The Netherlands, April 1994
-
Dubowitz, V., M. Fardeau: Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy, The Netherlands, April 1994 Neuromusc. Disord. 5 (1995) 253-258
-
(1995)
Neuromusc. Disord.
, vol.5
, pp. 253-258
-
-
Dubowitz, V.1
Fardeau, M.2
-
13
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti, J. M., K. Ohlendieck, S. D. Kahl, M. G. Gaver, K. P. Campbell: Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle Nature 345 (1990) 315-319
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
14
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic, and pathological consideration
-
Fukuyama, Y., M. Osawa, H. Suzuki: Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic, and pathological consideration. Brain Dev. 3 (1981) 1-29
-
(1981)
Brain Dev.
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
15
-
-
0023176965
-
The heterogeneity of the Peña-Shokeir syndrome
-
Hageman, G., J. Willemse, B. A. van Ketet, P. G. Barth, D. Lindhout: The heterogeneity of the Peña-Shokeir syndrome. Neuropediatrics 18 (1987) 45-50
-
(1987)
Neuropediatrics
, vol.18
, pp. 45-50
-
-
Hageman, G.1
Willemse, J.2
Van Ketet, B.A.3
Barth, P.G.4
Lindhout, D.5
-
16
-
-
0016813740
-
Congenital myotonic dystrophy in Britain. I. Clinical aspects
-
Harper, P. S.: Congenital myotonic dystrophy in Britain. I. Clinical aspects Arch Dis. Chlid 50 (1975) 505-513
-
(1975)
Arch Dis. Chlid
, vol.50
, pp. 505-513
-
-
Harper, P.S.1
-
17
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
Hayashi, Y. K., E. Engvall, E. Arikawa-Hirasawa, K. Goto, R, Koga, I. Nonaka et al: Abnormal localization of laminin subunits in muscular dystrophies. J. Neurol. Sci. 119 (1993) 53-64
-
(1993)
J. Neurol. Sci.
, vol.119
, pp. 53-64
-
-
Hayashi, Y.K.1
Engvall, E.2
Arikawa-Hirasawa, E.3
Goto, K.4
Koga, R.5
Nonaka, I.6
-
18
-
-
0022297922
-
Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb-girdle dystrophy
-
Heckmatt, J. Z., V. Dubowitz: Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb-girdle dystrophy. Muscle Nerve 8 (1985) 705-709
-
(1985)
Muscle Nerve
, vol.8
, pp. 705-709
-
-
Heckmatt, J.Z.1
Dubowitz, V.2
-
19
-
-
0023126217
-
Cerebro-ocular dysplasia-muscular dystrophy syndrome: Report of two cases
-
Heggie, P, H. E. Grossinklaus, U. Roessmann, S. Chou, R. P. Cruse: Cerebro-ocular dysplasia-muscular dystrophy syndrome: Report of two cases. Arch. Ophthalmol. 105 (1987) 520-524
-
(1987)
Arch. Ophthalmol.
, vol.105
, pp. 520-524
-
-
Heggie, P.1
Grossinklaus, H.E.2
Roessmann, U.3
Chou, S.4
Cruse, R.P.5
-
20
-
-
0018820987
-
Contractures in a newborn infant of a mother with myasthenia gravis
-
Holmes, L. B., S. G. Driscoll, W. G. Bradley: Contractures in a newborn infant of a mother with myasthenia gravis. J. Pediatr. 96 (1980) 1067-1069
-
(1980)
J. Pediatr.
, vol.96
, pp. 1067-1069
-
-
Holmes, L.B.1
Driscoll, S.G.2
Bradley, W.G.3
-
21
-
-
0017123442
-
Congenital muscular dystrophy as a disease of the central nervous system
-
Kamoshita, S., Y. Konishi, M. Segawa, Y. Fukuyama: Congenital muscular dystrophy as a disease of the central nervous system. Arch. Neurol. 33 (1976) 513-516
-
(1976)
Arch. Neurol.
, vol.33
, pp. 513-516
-
-
Kamoshita, S.1
Konishi, Y.2
Segawa, M.3
Fukuyama, Y.4
-
22
-
-
0027314631
-
Fukuyama-type congenital muscular dystrophy and the, Walker-Warburg syndrome
-
Kimura, S., Y. Sasaki, T. Kobayashi, N. Ohtsuki, Y. Tanaka, M. Hara et al: Fukuyama-type congenital muscular dystrophy and the, Walker-Warburg syndrome. Brain. Dev 15 (1993) 182-191
-
(1993)
Brain. Dev
, vol.15
, pp. 182-191
-
-
Kimura, S.1
Sasaki, Y.2
Kobayashi, T.3
Ohtsuki, N.4
Tanaka, Y.5
Hara, M.6
-
23
-
-
0021331946
-
Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families
-
Korinthenberg, R., D. Palm, W. Schlake, J. Klein: Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families. Eur. J. Pediatr 142 (1984) 64-68
-
(1984)
Eur. J. Pediatr
, vol.142
, pp. 64-68
-
-
Korinthenberg, R.1
Palm, D.2
Schlake, W.3
Klein, J.4
-
24
-
-
0027080711
-
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients
-
Leyten, Q. H., F. J. M. Gabreels, W. O. Renier, K. Renkawek, H. J ter Look, R. A. Mullaart: Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. Neuropediatrics 23 (1992) 316-320
-
(1992)
Neuropediatrics
, vol.23
, pp. 316-320
-
-
Leyten, Q.H.1
Gabreels, F.J.M.2
Renier, W.O.3
Renkawek, K.4
Ter Look, H.J.5
Mullaart, R.A.6
-
25
-
-
0027428923
-
Muscle involvement in Walker-Warburg syndrome: Clmicopathologic features of four cases
-
Lightig, C., R. M. Ludatscher, H. Mandel, R. Gershoni-Baruch: Muscle involvement in Walker-Warburg syndrome: Clmicopathologic features of four cases. Am. J. Clin. Pathol. 100 (1993) 493-196
-
(1993)
Am. J. Clin. Pathol.
, vol.100
, pp. 493-1196
-
-
Lightig, C.1
Ludatscher, R.M.2
Mandel, H.3
Gershoni-Baruch, R.4
-
26
-
-
0022402229
-
Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita
-
Moerman, P. H., J. P. Fryns, H. Van Dijck, J. M. Lauweryns: Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita Virchows Arch. Pathol Anat. 408 (1985) 43-48
-
(1985)
Virchows Arch. Pathol Anat.
, vol.408
, pp. 43-48
-
-
Moerman, P.H.1
Fryns, J.P.2
Van Dijck, H.3
Lauweryns, J.M.4
-
27
-
-
84907113057
-
Walker-Warburg syndrome
-
Murphy, K. J., R. PeBenito, R. L. Storm, C. Ferretti, D. P. C. Liu: Walker-Warburg syndrome. Ophthalmic Paediatr Genet. 11 (1990) 103-108
-
(1990)
Ophthalmic Paediatr Genet.
, vol.11
, pp. 103-108
-
-
Murphy, K.J.1
PeBenito, R.2
Storm, R.L.3
Ferretti, C.4
Liu, D.P.C.5
-
29
-
-
0026328022
-
Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice
-
Ohlendieck, K., K. P. Campbell: Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice J. Cell Biol. 115 (1991) 1685-1694
-
(1991)
J. Cell Biol.
, vol.115
, pp. 1685-1694
-
-
Ohlendieck, K.1
Campbell, K.P.2
-
30
-
-
0027481238
-
Duchenne muscular dystrophy: Deficiency of dystrophin-associated proteins in the sarcolemma
-
Ohlendieck, K., K. Matsumura, V. V. lonasescu, J. A. Towbin, E. P. Bosch, S. L. Weinstein et al: Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 43 (1993) 795-800
-
(1993)
Neurology
, vol.43
, pp. 795-800
-
-
Ohlendieck, K.1
Matsumura, K.2
Lonasescu, V.V.3
Towbin, J.A.4
Bosch, E.P.5
Weinstein, S.L.6
-
31
-
-
0028346982
-
Congenital muscular dystrophy with distinct CNS involvement
-
Olive, M., J. Sirvent, I. Ferrer: Congenital muscular dystrophy with distinct CNS involvement. Neuropediatncs 25 (1994) 48-50
-
(1994)
Neuropediatncs
, vol.25
, pp. 48-50
-
-
Olive, M.1
Sirvent, J.2
Ferrer, I.3
-
32
-
-
0025816789
-
Lethal arthrogryposis multiplex congenita: A pathological study of 21 cases
-
Quinn, C. M., J. S. Wigglesworth, J. Heckmatt: Lethal arthrogryposis multiplex congenita: A pathological study of 21 cases. Histopathology 19 (1091) 155-162
-
(1091)
Histopathology
, vol.19
, pp. 155-162
-
-
Quinn, C.M.1
Wigglesworth, J.S.2
Heckmatt, J.3
-
34
-
-
0025452679
-
Muscle-eye-brain disease and Walker-Warburg syndrome
-
Santavuori, P: Muscle-eye-brain disease and Walker-Warburg syndrome. Am J Med. Genet. 30 (1990) 371-372
-
(1990)
Am J Med. Genet.
, vol.30
, pp. 371-372
-
-
Santavuori, P.1
-
35
-
-
0024375162
-
Muscle-eye-brain disease (MEB)
-
Santavuori, P., H. Somer, K. Sainio, J. Rapola, S. Kruus, T. Nikitin et al: Muscle-eye-brain disease (MEB). Brain Dev. III (1989) 147-153
-
(1989)
Brain Dev.
, vol.3
, pp. 147-153
-
-
Santavuori, P.1
Somer, H.2
Sainio, K.3
Rapola, J.4
Kruus, S.5
Nikitin, T.6
-
36
-
-
0038511677
-
Clinicopathologic study of congenital progressive muscular dystrophy (Fukuyama type)
-
Shishikura, K., M. Osawa, H. Suzuki, Y Hirayama, K. Saito, N. Okada et al: Clinicopathologic study of congenital progressive muscular dystrophy (Fukuyama type). Acta Paediatr. Jpn. 92 (1988) 215-224
-
(1988)
Acta Paediatr. Jpn.
, vol.92
, pp. 215-224
-
-
Shishikura, K.1
Osawa, M.2
Suzuki, H.3
Hirayama, Y.4
Saito, K.5
Okada, N.6
-
37
-
-
0028331166
-
Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature
-
Sombekke, B. H. E, W. M. Molenaar, A. J. van Essen, C. J. F. Schools: Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature. Pediatric Pathology 14 (1994) 277-285
-
(1994)
Pediatric Pathology
, vol.14
, pp. 277-285
-
-
Sombekke, B.H.E.1
Molenaar, W.M.2
Van Essen, A.J.3
Schools, C.J.F.4
-
38
-
-
0021136592
-
Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type)
-
Takada, K., H. Nakamura, J. Tanaka: Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J. Neuropathol Exp. Neurol. 43 (1984) 395-407
-
(1984)
J. Neuropathol Exp. Neurol.
, vol.43
, pp. 395-407
-
-
Takada, K.1
Nakamura, H.2
Tanaka, J.3
-
39
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tome, F. M. S., T. Evangelista, A. Leclerc, Y. Sunada, E. Manole, B. Estournet et al Congenital muscular dystrophy with merosin deficiency. CR Acad. Sci. Paris, Life Sciences 317 (1994) 351-357
-
(1994)
CR Acad. Sci. Paris, Life Sciences
, vol.317
, pp. 351-357
-
-
Tome, F.M.S.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estournet, B.6
-
40
-
-
0026771883
-
Selective involvement of the quadriceps muscle in congenital muscular dystrophies. An ultrasonographic study
-
Topaluglu, H., K. Gucuyener, K. Yalaz, Y. Renda, M. Topcu, S. Aysun et al: Selective involvement of the quadriceps muscle in congenital muscular dystrophies. An ultrasonographic study. Brain Dev. 14 (1992) 84-87
-
(1992)
Brain Dev.
, vol.14
, pp. 84-87
-
-
Topaluglu, H.1
Gucuyener, K.2
Yalaz, K.3
Renda, Y.4
Topcu, M.5
Aysun, S.6
-
41
-
-
0021678766
-
Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome
-
Towfighi, J., J. W. Sassani, K. Suzuki, R. L. Ladda: Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. Acta Neuropathol. 65 (1984) 110-123
-
(1984)
Acta Neuropathol.
, vol.65
, pp. 110-123
-
-
Towfighi, J.1
Sassani, J.W.2
Suzuki, K.3
Ladda, R.L.4
-
42
-
-
0029055267
-
Preserved merosrn M-chain (or laminin-α2) expression in the skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosm-deficient congenital muscular dystrophy
-
Voit, T., C. A. Sewry, K. Meyer, R. Hermann, V. Strab, F. Muntoni et al: Preserved merosrn M-chain (or laminin-α2) expression in the skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosm-deficient congenital muscular dystrophy Neuropediatrics 26 (1995) 148-155
-
(1995)
Neuropediatrics
, vol.26
, pp. 148-155
-
-
Voit, T.1
Sewry, C.A.2
Meyer, K.3
Hermann, R.4
Strab, V.5
Muntoni, F.6
-
43
-
-
0025811314
-
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome?
-
Wargowski, D. S., D. Chitayat, R. W. Tyson, M. G. Norman, J. M. Friedman: Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome? Am J. Med. Genet 39 (1991) 19-24
-
(1991)
Am J. Med. Genet
, vol.39
, pp. 19-24
-
-
Wargowski, D.S.1
Chitayat, D.2
Tyson, R.W.3
Norman, M.G.4
Friedman, J.M.5
-
45
-
-
0027285691
-
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM
-
Yamaguchi, E., T. Hayashi, H. Kondoh, N. Tashiro, M. Tsukahara, T. Nagamitsu et al A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. Brain Dev 15 (1993) 61-65
-
(1993)
Brain Dev
, vol.15
, pp. 61-65
-
-
Yamaguchi, E.1
Hayashi, T.2
Kondoh, H.3
Tashiro, N.4
Tsukahara, M.5
Nagamitsu, T.6
|