-
3
-
-
0022994114
-
An autosomal dominant type of congenital muscular dystrophy
-
Leyten QH, Gabreels FJ, Joosten EM, et al: An autosomal dominant type of congenital muscular dystrophy. Brain Dev 1986;8: 533-537.
-
(1986)
Brain Dev
, vol.8
, pp. 533-537
-
-
Leyten, Q.H.1
Gabreels, F.J.2
Joosten, E.M.3
-
4
-
-
0027954337
-
nd ENMC sponsored meeting on congenital muscular dystrophy held in Baarn, the Netherlands, 14-16 May, 1993
-
nd ENMC sponsored meeting on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May, 1993. Neuromusc Disord 1995;4:75-81.
-
(1995)
Neuromusc Disord
, vol.4
, pp. 75-81
-
-
Dubowitz, V.1
-
5
-
-
0029060893
-
th ENMC sponsored workshop on congenital muscular dystrophy, 22-24 April, 1994, the Netherlands
-
th ENMC sponsored workshop on congenital muscular dystrophy, 22-24 April, 1994, The Netherlands. Neuromusc Disord 1995;5:253-258.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 253-258
-
-
Dubowitz, V.1
Fardeau, M.2
-
6
-
-
0030220589
-
st ENMC international workshop on congenital muscular dystrophy, 8-10 March, 1996, Naarden, the Netherlands
-
st ENMC international workshop on congenital muscular dystrophy, 8-10 March, 1996, Naarden, The Netherlands. Neuromusc Disord 1996;6:295-306.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 295-306
-
-
Dubowitz, V.1
-
7
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Paris
-
Tomé FMS, Evangelista T, Leclerc A, et al: Congenital muscular dystrophy with merosin deficiency. C R Acad Sci (Paris) 1994;317: 351-357.
-
(1994)
C R Acad Sci
, vol.317
, pp. 351-357
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
-
8
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al: Primary structure of dystrophin-associated glycoproteins linking dystrophin to the 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
-
9
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP: A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122:809-823.
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
10
-
-
0029061267
-
Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
-
Philpot J,Sewry C, Pennock J, Dubowitz V: Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995;5:301-305.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
11
-
-
0030220198
-
Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy
-
North KN, Beggs AH: Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromusc Disord 1996;6:229-235.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 229-235
-
-
North, K.N.1
Beggs, A.H.2
-
12
-
-
0029398648
-
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities
-
Sunada Y, Edgar TS, Lotz BP, et al: Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995;45:2084-2089.
-
(1995)
Neurology
, vol.45
, pp. 2084-2089
-
-
Sunada, Y.1
Edgar, T.S.2
Lotz, B.P.3
-
13
-
-
0037603002
-
Merosin-negative congenital muscular dystrophy, cortical dysplasia and epilepsy: An association to investigate
-
Pini A, Tomé F, Chevally M, Gobbi G: Merosin-negative congenital muscular dystrophy, cortical dysplasia and epilepsy: An association to investigate, abstract. Neuromusc Disord 1996;6:S17.
-
(1996)
Neuromusc Disord
, vol.6
-
-
Pini, A.1
Tomé, F.2
Chevally, M.3
Gobbi, G.4
-
14
-
-
0030837406
-
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
-
Van der Knaap MS, Smit LME, Barth PG, et al: Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997;42:50-59.
-
(1997)
Ann Neurol
, vol.42
, pp. 50-59
-
-
Van Der Knaap, M.S.1
Smit, L.M.E.2
Barth, P.G.3
-
15
-
-
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;3:1-29.
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
16
-
-
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
-
18
-
-
0029956106
-
The domains of laminin
-
Engvall E, Wewer UM: The domains of laminin. J Cell Biol 1996;61: 493-501.
-
(1996)
J Cell Biol
, vol.61
, pp. 493-501
-
-
Engvall, E.1
Wewer, U.M.2
-
19
-
-
0028066764
-
Human laminin M chain (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
-
Vuolteenaho 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
-
-
Vuolteenaho, R.1
Nissinen, M.2
Sainio, K.3
-
20
-
-
0030053280
-
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy
-
Sewry CA, Philpot J, Sorokin LM, et al: Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. Lancet 1996;347:582-584.
-
(1996)
Lancet
, vol.347
, pp. 582-584
-
-
Sewry, C.A.1
Philpot, J.2
Sorokin, L.M.3
-
21
-
-
0028584463
-
Prenatal detection of merosin expression in human placenta
-
Voit T, Fardeau M, Tomé FMS: Prenatal detection of merosin expression in human placenta. Neuropediatrics 1994;25:332-333.
-
(1994)
Neuropediatrics
, vol.25
, pp. 332-333
-
-
Voit, T.1
Fardeau, M.2
Tomé, F.M.S.3
-
22
-
-
0029007799
-
Expression of laminin subunits in congenital muscular dystrophy
-
Sewry CA, Philpot J, Mahony D, et al: Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 1995;5:307-316.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 307-316
-
-
Sewry, C.A.1
Philpot, J.2
Mahony, D.3
-
23
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA 2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, et al: Mutations in the laminin α2-chain gene (LAMA 2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11:216-218.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
24
-
-
0026844129
-
Congenital muscular dystrophy with abnormal radiographic myelin pattern
-
Cook JD, Gascon GG, Haider A, et al: Congenital muscular dystrophy with abnormal radiographic myelin pattern. J Child Neurol 1992;7(Suppl):S51-S63.
-
(1992)
J Child Neurol
, vol.7
, Issue.SUPPL.
-
-
Cook, J.D.1
Gascon, G.G.2
Haider, A.3
-
25
-
-
0022502986
-
Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile
-
Echenne B, Arthuis M, Billard C, et al: Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile. J Neurol Sci 1986; 75:7-22.
-
(1986)
J Neurol Sci
, vol.75
, pp. 7-22
-
-
Echenne, B.1
Arthuis, M.2
Billard, C.3
-
26
-
-
0028927297
-
White matter abnormalities in congenital muscular dystrophy
-
Leyten QH, Gabreëls FJM, Renier WO, et al: White matter abnormalities in congenital muscular dystrophy. J Neurol Sci 1995;129: 162-169.
-
(1995)
J Neurol Sci
, vol.129
, pp. 162-169
-
-
Leyten, Q.H.1
Gabreëls, F.J.M.2
Renier, W.O.3
-
27
-
-
0026024319
-
Occidental type cerebromuscular dystrophy: A report of eleven cases
-
Topaloglu H, Yalaz K, Renda Y, et al: Occidental type cerebromuscular dystrophy: A report of eleven cases. J Neurol Neurosurg Psychiatry 1991;54:226-229.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 226-229
-
-
Topaloglu, H.1
Yalaz, K.2
Renda, Y.3
-
28
-
-
0025753765
-
Congenital muscular dystrophy: Brain alterations in an unselected series of Western patients
-
Trevisan CP, Carollo C, Segalla P, et al: Congenital muscular dystrophy: Brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry 1991;54:330-334.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 330-334
-
-
Trevisan, C.P.1
Carollo, C.2
Segalla, P.3
-
29
-
-
0028903392
-
Somatosensory and visual evoked potentials in congenital muscular dystrophy: Correlation with MRI changes and muscle merosin status
-
Mercuri E, Muntoni F, Berardinelli A, et al: Somatosensory and visual evoked potentials in congenital muscular dystrophy: Correlation with MRI changes and muscle merosin status. Neuropediatrics 1995;26:3-7.
-
(1995)
Neuropediatrics
, vol.26
, pp. 3-7
-
-
Mercuri, E.1
Muntoni, F.2
Berardinelli, A.3
-
30
-
-
0029877803
-
Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (occidental) merosin-positive form
-
Kobayashi O, Hayashi Y, Arahata K, et al: Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (occidental) merosin-positive form. Neurology 1997;46: 815-818.
-
(1997)
Neurology
, vol.46
, pp. 815-818
-
-
Kobayashi, O.1
Hayashi, Y.2
Arahata, K.3
-
31
-
-
0028795670
-
Posterior agyria-pachygyria with polymicrogyria: Evidence for an inherited neuronal migration disorder
-
Ferrie CD, Jackson GD, Giannakodimos S, Panayiotopoulos CP: Posterior agyria-pachygyria with polymicrogyria: Evidence for an inherited neuronal migration disorder. Neurology 1995;45:150-153.
-
(1995)
Neurology
, vol.45
, pp. 150-153
-
-
Ferrie, C.D.1
Jackson, G.D.2
Giannakodimos, S.3
Panayiotopoulos, C.P.4
-
32
-
-
0029075882
-
Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: A clinical and neuroradiological follow-up
-
Trevisan CP, Martinello F, Ferruzza E, Angelini C: Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: A clinical and neuroradiological follow-up. Eur Neurol 1995;35:230-235.
-
(1995)
Eur Neurol
, vol.35
, pp. 230-235
-
-
Trevisan, C.P.1
Martinello, F.2
Ferruzza, E.3
Angelini, C.4
-
33
-
-
0027968167
-
Merosin promotes neunte growth and Schwann cell migration in vitro and nerve regeneration in vivo: Evidence using an antibody to merosin, ARM-1
-
Anton ES, Sandrock AW Jr, Matthew WD: Merosin promotes neunte growth and Schwann cell migration in vitro and nerve regeneration in vivo: Evidence using an antibody to merosin, ARM-1. Dev Biol 1994;164:133-146.
-
(1994)
Dev Biol
, vol.164
, pp. 133-146
-
-
Anton, E.S.1
Sandrock Jr., A.W.2
Matthew, W.D.3
-
34
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Faure S, et al: Localization of merosin-negative 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
Faure, S.3
-
35
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
Toda T, Segawa M, Nomura Y, et al: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 1993;5:283-286.
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
-
36
-
-
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
-
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;26:148-155.
-
(1995)
Neuropediatrics
, vol.26
, pp. 148-155
-
-
Voit, T.1
Sewry, C.A.2
Meyer, K.3
-
37
-
-
0029012558
-
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic
-
Ranta S, Pihko H, Santavuori P, et al: Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 1995;5:221-225.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 221-225
-
-
Ranta, S.1
Pihko, H.2
Santavuori, P.3
-
38
-
-
0030918601
-
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain
-
Sewry CA, Naom I, D'Alessandro M, et al: Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain. Neuromusc Disord 1997;7:169-175.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 169-175
-
-
Sewry, C.A.1
Naom, I.2
D'Alessandro, M.3
|