-
1
-
-
0029875997
-
Dystrophin-associated proteins and the muscular dystrophies: A glossary
-
Brown RH Jr (1996) Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol 6: 19-24
-
(1996)
Brain Pathol
, vol.6
, pp. 19-24
-
-
Brown Jr., R.H.1
-
2
-
-
0028266957
-
Kidney in Galloway-Mowat syndrome: Clinical spectrum with description of pathology
-
Cohen AH, Turner MC (1994) Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 45: 1407-1415
-
(1994)
Kidney Int
, vol.45
, pp. 1407-1415
-
-
Cohen, A.H.1
Turner, M.C.2
-
3
-
-
0027296792
-
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy
-
Cooperstone BG, Friedman A, Kaplan BS (1993) Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. Am J Med Genet 47: 250-254
-
(1993)
Am J Med Genet
, vol.47
, pp. 250-254
-
-
Cooperstone, B.G.1
Friedman, A.2
Kaplan, B.S.3
-
4
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome
-
Dobyns WB, Pagon RA, Armstrong D, Curry CJR, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, Zimmerman RL (1989) Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32:195-210
-
(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
Holmes, L.B.7
Laxova, R.8
Michels, V.V.9
Robinow, M.10
Zimmerman, R.L.11
-
6
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H (1981) Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic and pathological considerations. Brain Dev 3: 1-29
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
7
-
-
0021441625
-
Association d'un syndrome néphrotique à début précose et d'une microcéphalie
-
Gaudelus J, Leverger G, Rault G, Nathanson M, Giorno JL, Boccon-Gibod L, Levy M, Broyer M (1984) Association d'un syndrome néphrotique à début précose et d'une microcéphalie. Arch Fr Pediatr 41: 409-415
-
(1984)
Arch Fr Pediatr
, vol.41
, pp. 409-415
-
-
Gaudelus, J.1
Leverger, G.2
Rault, G.3
Nathanson, M.4
Giorno, J.L.5
Boccon-Gibod, L.6
Levy, M.7
Broyer, M.8
-
8
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
Hamida MB, Fardeau M, Attia N (1983) Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 6: 469-480
-
(1983)
Muscle Nerve
, vol.6
, pp. 469-480
-
-
Hamida, M.B.1
Fardeau, M.2
Attia, N.3
-
9
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
Hayashi YK, Engvall E, Arikawa-Hirasawa E, Goto K, Koga R, Nonaka I, Sugita H, Arahata K (1993) Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 119: 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
Sugita, H.7
Arahata, K.8
-
10
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP (1992) Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughter, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
11
-
-
0017123442
-
Congenital muscular dystrophy as a disease of the central nervous system
-
Kamoshita S, Konishi Y, Segawa M, Fukuyama Y (1976) Congenital muscular dystrophy as a disease of the central nervous system. Arch Neurol 33: 513-516
-
(1976)
Arch Neurol
, vol.33
, pp. 513-516
-
-
Kamoshita, S.1
Konishi, Y.2
Segawa, M.3
Fukuyama, Y.4
-
13
-
-
0028047235
-
Dystrophin-glycoprotein complex: Its role in the molecular pathogenesis of muscular dystrophies
-
Matsumura K, Campbell KP (1994) Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 17: 2-15
-
(1994)
Muscle Nerve
, vol.17
, pp. 2-15
-
-
Matsumura, K.1
Campbell, K.P.2
-
14
-
-
0027458810
-
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy
-
Matusmura K, Nonaka I, Campbell KP (1993) Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 341: 521-522
-
(1993)
Lancet
, vol.341
, pp. 521-522
-
-
Matusmura, K.1
Nonaka, I.2
Campbell, K.P.3
-
15
-
-
0028903392
-
Somatosensory and visual evoked potentials in congenital muscular dystrophy: Correlation with MRI changes and muscle merosin status
-
Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V (1995) Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 26: 3-7
-
(1995)
Neuropediatrics
, vol.26
, pp. 3-7
-
-
Mercuri, E.1
Muntoni, F.2
Berardinelli, A.3
Pennock, J.4
Sewry, C.5
Philpot, J.6
Dubowitz, V.7
-
16
-
-
0025824525
-
Cerebro-ocular dysplasia- Muscular dystrophy (Walker Warburg) syndrome. Finding in 20-week-old fetus
-
Miller G, Ladda RL, Towfighi J (1991) Cerebro-ocular dysplasia-muscular dystrophy (Walker Warburg) syndrome. Finding in 20-week-old fetus. Acta Neuropathol 82: 234-238
-
(1991)
Acta Neuropathol
, vol.82
, pp. 234-238
-
-
Miller, G.1
Ladda, R.L.2
Towfighi, J.3
-
17
-
-
0007587706
-
Genetico-clinical types of progressive muscular dystrophy with special reference to "malignant limb-girdle type"
-
Miyoshi K, Tada Y, Kawai H (1974) Genetico-clinical types of progressive muscular dystrophy with special reference to "malignant limb-girdle type". Jpn J Hum Genet 19: 39-42
-
(1974)
Jpn J Hum Genet
, vol.19
, pp. 39-42
-
-
Miyoshi, K.1
Tada, Y.2
Kawai, H.3
-
18
-
-
0027740241
-
Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues
-
Mizuno Y, Yoshida M, Yamamoto H, Hirai S, Ozawa E (1993) Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues. J Biochem 114: 936-941
-
(1993)
J Biochem
, vol.114
, pp. 936-941
-
-
Mizuno, Y.1
Yoshida, M.2
Yamamoto, H.3
Hirai, S.4
Ozawa, E.5
-
19
-
-
0030034055
-
Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle
-
Mora M, Di Blasi C, Barresi R, Morandi L, Brambati B, Jarre L, Cornelio F (1996) Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle. Dev Brain Res 91: 70-82
-
(1996)
Dev Brain Res
, vol.91
, pp. 70-82
-
-
Mora, M.1
Di Blasi, C.2
Barresi, R.3
Morandi, L.4
Brambati, B.5
Jarre, L.6
Cornelio, F.7
-
20
-
-
0030031292
-
Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus
-
Nakano I, Funahashi M, Takada K, Toda T (1996) Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 91: 313-321
-
(1996)
Acta Neuropathol
, vol.91
, pp. 313-321
-
-
Nakano, I.1
Funahashi, M.2
Takada, K.3
Toda, T.4
-
21
-
-
0029921917
-
Basement membrane abnormality in merosin-negative congenital muscular dystrophy
-
Osari, S, Kobayashi O, Yamashita Y, Matsuishi T, Goto M, Tanabe Y, Migita T, Nonaka I (1996) Basement membrane abnormality in merosin-negative congenital muscular dystrophy. Acta Neuropathol 91: 332-336
-
(1996)
Acta Neuropathol
, vol.91
, pp. 332-336
-
-
Osari, S.1
Kobayashi, O.2
Yamashita, Y.3
Matsuishi, T.4
Goto, M.5
Tanabe, Y.6
Migita, T.7
Nonaka, I.8
-
22
-
-
0022635229
-
Nephrosis and disturbances of neuronal migration in male siblings - A new hereditary disorder?
-
Palm L, Hägerstrand I, Kristoffersson U, Blennow G, Brun A, Jörgensen C (1986) Nephrosis and disturbances of neuronal migration in male siblings - a new hereditary disorder? Arch Dis Child 61: 545-548
-
(1986)
Arch Dis Child
, vol.61
, pp. 545-548
-
-
Palm, L.1
Hägerstrand, I.2
Kristoffersson, U.3
Blennow, G.4
Brun, A.5
Jörgensen, C.6
-
23
-
-
0020554785
-
Pachygyria and congenital nephrosis disorder of migration and neuronal orientation
-
Berl
-
Robain O, Deonna T (1983) Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. Acta Neuropathol (Berl) 60: 137-141
-
(1983)
Acta Neuropathol
, vol.60
, pp. 137-141
-
-
Robain, O.1
Deonna, T.2
-
24
-
-
0027361264
-
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated slycoprotein (adhalin)
-
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (1993) Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated slycoprotein (adhalin). J Biol Chem 268: 23739-23742
-
(1993)
J Biol Chem
, vol.268
, pp. 23739-23742
-
-
Roberds, S.L.1
Anderson, R.D.2
Ibraghimov-Beskrovnaya, O.3
Campbell, K.P.4
-
25
-
-
0025010542
-
Molecular heterogeneity of basal laminae: Isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere
-
Sanes JR, Engvall E, Butkowski R, Hunter DD (1990) Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere. J Cell Biol 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
-
26
-
-
0029124239
-
Expression of laminin subunits in human fetal skeletal muscle
-
Sewry CA, Chevallay M, Tomé FMS (1995) Expression of laminin subunits in human fetal skeletal muscle. Histochem J 27: 497-504
-
(1995)
Histochem J
, vol.27
, pp. 497-504
-
-
Sewry, C.A.1
Chevallay, M.2
Tomé, F.M.S.3
-
27
-
-
0029007799
-
Expression of laminin subunits in congenital muscular dystrophy
-
Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V (1995) Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 5: 307-316
-
(1995)
Neuromusc Disord
, vol.5
, pp. 307-316
-
-
Sewry, C.A.1
Philpot, J.2
Mahony, D.3
Wilson, L.A.4
Muntoni, F.5
Dubowitz, V.6
-
28
-
-
0023937158
-
Fukuyama congenital muscular dystrophy as a unique disorder of neuronal migration: A neuropathological review and hypothesis
-
Takada K (1988) Fukuyama congenital muscular dystrophy as a unique disorder of neuronal migration: a neuropathological review and hypothesis. Yonago Acta Med 31: 1-16
-
(1988)
Yonago Acta Med
, vol.31
, pp. 1-16
-
-
Takada, K.1
-
29
-
-
0023231444
-
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD)
-
Berl
-
Takada K, Nakamura H, Suzumori K, Ishikawa T, Sugiyama N (1987) Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). Acta Neuropathol (Berl) 74: 300-306
-
(1987)
Acta Neuropathol
, vol.74
, pp. 300-306
-
-
Takada, K.1
Nakamura, H.2
Suzumori, K.3
Ishikawa, T.4
Sugiyama, N.5
-
30
-
-
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, Suzuki M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Otani K, Murakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 5: 283-286
-
(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
Suzuki, M.7
Tomita, I.8
Origuchi, Y.9
Ohno, K.10
Misugi, N.11
Sasaki, Y.12
Takada, K.13
Kawai, M.14
Otani, K.15
Murakami, T.16
Saito, K.17
Fukuyama, Y.18
Shimizu, T.19
Kanazawa, I.20
Nakamura, Y.21
more..
-
31
-
-
0028114849
-
Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: Evidence for strong linkage disequilibrium
-
Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, Nakamura Y (1994) Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet 55: 946-950
-
(1994)
Am J Hum Genet
, vol.55
, pp. 946-950
-
-
Toda, T.1
Ikegawa, S.2
Okui, K.3
Kondo, E.4
Saito, K.5
Fukuyama, Y.6
Yoshioka, M.7
Kumagai, T.8
Suzumori, K.9
Kanazawa, I.10
Nakamura, Y.11
-
32
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tomé FMS, Evangelista T, Leclerc A, Sunada Y, Manole E, Estoumet B, Barois A, Campbell KP, Fardeau M (1994) Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris 317: 351-357
-
(1994)
C R Acad Sci Paris
, vol.317
, pp. 351-357
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estoumet, B.6
Barois, A.7
Campbell, K.P.8
Fardeau, M.9
-
33
-
-
0028103785
-
Expression ot dystrophin-associated glycoproteins during human fetal muscle development: A preliminary immunocytochemical study
-
Tomé FMS, Matsumura K, Chevallay M, Campbell KP, Fardeau M (1994) Expression ot dystrophin-associated glycoproteins during human fetal muscle development: a preliminary immunocytochemical study. Neuromusc Disord 4: 343-348
-
(1994)
Neuromusc Disord
, vol.4
, pp. 343-348
-
-
Tomé, F.M.S.1
Matsumura, K.2
Chevallay, M.3
Campbell, K.P.4
Fardeau, M.5
-
34
-
-
0029160025
-
Receptor tyrosine kinase specific for the skeletal muscle lineage: Expression in embryonic muscle, at the neuromuscular junction, and after injury
-
Velenzuela DM, Stitt TN, DiStefano PS, Rojas E, Mattsson K, Compton DL, Nuñez L, Park JS, Stark JL, Gies DR, Thomas S, Le Beau MM, Fernald AA, Copeland NG, Jenkins NA, Burden SJ, Glass DJ, Yacopoulos GD (1995) Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. Neuron 15: 573-584
-
(1995)
Neuron
, vol.15
, pp. 573-584
-
-
Velenzuela, D.M.1
Stitt, T.N.2
DiStefano, P.S.3
Rojas, E.4
Mattsson, K.5
Compton, D.L.6
Nuñez, L.7
Park, J.S.8
Stark, J.L.9
Gies, D.R.10
Thomas, S.11
Le Beau, M.M.12
Fernald, A.A.13
Copeland, N.G.14
Jenkins, N.A.15
Burden, S.J.16
Glass, D.J.17
Yacopoulos, G.D.18
-
35
-
-
0027930113
-
Dystroglycan is a binding protein of laminin and merosin in peripheral nerve
-
Yamada H, Shimizu T, Tanaka T, Campbell KP, Matsumura K (1994) Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett 352: 49-53
-
(1994)
FEBS Lett
, vol.352
, pp. 49-53
-
-
Yamada, H.1
Shimizu, T.2
Tanaka, T.3
Campbell, K.P.4
Matsumura, K.5
-
36
-
-
0028153581
-
Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles
-
Yamamoto H, Mizuno Y, Hayashi K, Nonaka, I, Yoshida M, Ozawa E (1994) Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles. J Biochem 115: 162-167
-
(1994)
J Biochem
, vol.115
, pp. 162-167
-
-
Yamamoto, H.1
Mizuno, Y.2
Hayashi, K.3
Nonaka, I.4
Yoshida, M.5
Ozawa, E.6
-
37
-
-
0029759153
-
Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20-week fetus
-
Yamamoto T, Komori T, Shibata N, Kobayashi M, Kondo E, Saito K, Osawa M, Toda T (1996) Fukuyama congenital muscular dystrophy: cortical dysplasia of the cerebrum in a 20-week fetus. Neuropathology 16: 184-189
-
(1996)
Neuropathology
, vol.16
, pp. 184-189
-
-
Yamamoto, T.1
Komori, T.2
Shibata, N.3
Kobayashi, M.4
Kondo, E.5
Saito, K.6
Osawa, M.7
Toda, T.8
-
38
-
-
0031051605
-
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy
-
Yamamoto T, Toyoda C, Kobayashi M, Kondo E, Saito K, Osawa M (1997) Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. Brain Dev 19:35-42
-
(1997)
Brain Dev
, vol.19
, pp. 35-42
-
-
Yamamoto, T.1
Toyoda, C.2
Kobayashi, M.3
Kondo, E.4
Saito, K.5
Osawa, M.6
|