-
1
-
-
0001916852
-
The muscular dystrophies
-
Dubowitz V, ed. London: WB Saunders
-
Dubowitz V. The muscular dystrophies. In: Dubowitz V, ed. Muscle disorders of childhood. 2nd ed. London: WB Saunders 1995:34-133.
-
(1995)
Muscle Disorders of Childhood. 2nd Ed.
, pp. 34-133
-
-
Dubowitz, V.1
-
2
-
-
0028931768
-
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
-
Toda T, Yoshioka 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
Yoshioka, M.2
Nakahori, Y.3
Kanazawa, I.4
Nakamura, Y.5
Nakagome, Y.6
-
3
-
-
0027314631
-
Fukuyarna-type congenital muscular dystrophy and the Walker-Warburg syndrome
-
Kimura S, Sasaki Y, Kobayashi T, Ohtsuki N, Tanaka Y, Hara M, et al. Fukuyarna-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
Ohtsuki, N.4
Tanaka, Y.5
Hara, M.6
-
4
-
-
0027364850
-
Localization of a gene for Fukuyama-type congenital muscular dystrophy to chromosome 9q31-33
-
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, et al. Localization of a gene for Fukuyama-type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 1993;5:283-6.
-
(1993)
Nature Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
Nonaka, I.4
Masuda, K.5
Ishihara, T.6
-
5
-
-
0028470184
-
Muscle and brain disease: An update
-
Gordon N. Muscle and brain disease: an update. Child Care Health Dev 1994;20:279-87.
-
(1994)
Child Care Health Dev
, vol.20
, pp. 279-287
-
-
Gordon, N.1
-
6
-
-
0026440290
-
Clinical variations within sibships in Fukuyama-type congenital muscular dystrophy
-
Yoshioka M, Kuroki S, Nigami H, Kawai T, Nakamura H. Clinical variations 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
-
7
-
-
0029012558
-
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic
-
Ranta S, Pihko H, Santavuori P, Tahvanainen E, De La Chappelle A. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 1995;5:221-5.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 221-225
-
-
Ranta, S.1
Pihko, H.2
Santavuori, P.3
Tahvanainen, E.4
De La Chappelle, A.5
-
8
-
-
0027458810
-
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy
-
Matsumura K, Nonaka I, Campbell K. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993;341:521-2.
-
(1993)
Lancet
, vol.341
, pp. 521-522
-
-
Matsumura, K.1
Nonaka, I.2
Campbell, K.3
-
9
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell K. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995;80:675-9.
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.1
-
10
-
-
0029875997
-
Editorial review. Dystrophin-associated proteins and the muscular dystrophies: A glossary
-
Brown R. Editorial review. Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol 1996;6:19-24.
-
(1996)
Brain Pathol
, vol.6
, pp. 19-24
-
-
Brown, R.1
-
11
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tom F, Evangelistica T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci 1994;317:351-73.
-
(1994)
CR Acad Sci
, vol.317
, pp. 351-373
-
-
Tom, F.1
Evangelistica, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estournet, B.6
-
12
-
-
0347733184
-
Peripheral and central nervous system involvement in merosin-deficient congenital muscular dystrophy
-
Dubowitz V, Mercuri E, Muntoni F, Philpot J, Sewry CA, Shorer Z. Peripheral and central nervous system involvement in merosin-deficient congenital muscular dystrophy. Neurology 1995;45(suppl 4):A407.
-
(1995)
Neurology
, vol.45
, Issue.4 SUPPL.
-
-
Dubowitz, V.1
Mercuri, E.2
Muntoni, F.3
Philpot, J.4
Sewry, C.A.5
Shorer, Z.6
-
13
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of sarcoglycan complex
-
Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of sarcoglycan complex. Nature Genet 1995;11:266-73.
-
(1995)
Nature Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
-
14
-
-
0028939131
-
Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy
-
Toda T, Watanabe T, Matsumura K, Sunada Y, Yamada H, Nakano I, et al. Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. Muscle Nerve 1995;18:508-17.
-
(1995)
Muscle Nerve
, vol.18
, pp. 508-517
-
-
Toda, T.1
Watanabe, T.2
Matsumura, K.3
Sunada, Y.4
Yamada, H.5
Nakano, I.6
|