-
1
-
-
0035066956
-
Radiologic classification of malformations of cortical development
-
Barkovich A.J., Kuzniecky R.I., Dobyns W.B. Radiologic classification of malformations of cortical development. Curr Opin Neurol. 14(2):2001;145-149
-
(2001)
Curr Opin Neurol
, vol.14
, Issue.2
, pp. 145-149
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Dobyns, W.B.3
-
2
-
-
0031435951
-
Cellular and molecular basis of cerebral dysgenesis
-
Crino P.B., Eberwine J. Cellular and molecular basis of cerebral dysgenesis. J Neurosci Res. 50(6):1997;907-916
-
(1997)
J Neurosci Res
, vol.50
, Issue.6
, pp. 907-916
-
-
Crino, P.B.1
Eberwine, J.2
-
3
-
-
0029996736
-
A classification scheme for malformations of cortical development
-
Barkovich A.J., Kuzniecky R.I., Dobyns W.B., Jackson G.D., Becker L.E., Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics. 27(2):1996;59-63
-
(1996)
Neuropediatrics
, vol.27
, Issue.2
, pp. 59-63
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Dobyns, W.B.3
Jackson, G.D.4
Becker, L.E.5
Evrard, P.6
-
4
-
-
0023177515
-
Sequence of central nervous system myelination in human infancy. I. An autopsy study of myelination
-
Brody B.A., Kinney H.C., Kloman A.S., Gilles F.H. Sequence of central nervous system myelination in human infancy. I. An autopsy study of myelination. J Neuropathol Exp Neurol. 46(3):1987;283-301
-
(1987)
J Neuropathol Exp Neurol
, vol.46
, Issue.3
, pp. 283-301
-
-
Brody, B.A.1
Kinney, H.C.2
Kloman, A.S.3
Gilles, F.H.4
-
5
-
-
0015340401
-
Mode of cell migration to the superficial layers of fetal monkey neocortex
-
Rakic P. Mode of cell migration to the superficial layers of fetal monkey neocortex. J Comp Neurol. 145:1972;61-84
-
(1972)
J Comp Neurol
, vol.145
, pp. 61-84
-
-
Rakic, P.1
-
6
-
-
0035825670
-
Neurons derived from radial glial cells establish radial units in neocortex
-
Noctor S.C., Flint A.C., Weissman T.A., Dammerman R.S., Kriegstein A.R. Neurons derived from radial glial cells establish radial units in neocortex. Nature. 409(6821):2001;714-720
-
(2001)
Nature
, vol.409
, Issue.6821
, pp. 714-720
-
-
Noctor, S.C.1
Flint, A.C.2
Weissman, T.A.3
Dammerman, R.S.4
Kriegstein, A.R.5
-
7
-
-
0037092422
-
Dividing precursor cells of the embryonic cortical ventricular zone have morphological and molecular characteristics of radial glia
-
Noctor S.C., Flint A.C., Weissman T.A., Wong W.S., Clinton B.K., Kriegstein A.R. Dividing precursor cells of the embryonic cortical ventricular zone have morphological and molecular characteristics of radial glia. J Neurosci. 22(8):2002;3161-3173
-
(2002)
J Neurosci
, vol.22
, Issue.8
, pp. 3161-3173
-
-
Noctor, S.C.1
Flint, A.C.2
Weissman, T.A.3
Wong, W.S.4
Clinton, B.K.5
Kriegstein, A.R.6
-
8
-
-
0035173885
-
Characterization of CNS precursor subtypes and radial glia
-
Hartfuss E., Galli R., Heins N., Gotz M. Characterization of CNS precursor subtypes and radial glia. Dev Biol. 229(1):2001;15-30
-
(2001)
Dev Biol
, vol.229
, Issue.1
, pp. 15-30
-
-
Hartfuss, E.1
Galli, R.2
Heins, N.3
Gotz, M.4
-
9
-
-
0023785808
-
Specification of cerebral cortical areas
-
Rakic P. Specification of cerebral cortical areas. Science. 241:1988;170-176
-
(1988)
Science
, vol.241
, pp. 170-176
-
-
Rakic, P.1
-
10
-
-
0029559096
-
Radial versus tangential migration of neuronal clones in the developing cerebral cortex
-
Rakic P. Radial versus tangential migration of neuronal clones in the developing cerebral cortex. Proc Natl Acad Sci U S A. 92:1995;11323-11327
-
(1995)
Proc Natl Acad Sci U S a
, vol.92
, pp. 11323-11327
-
-
Rakic, P.1
-
11
-
-
0029122621
-
Radial and horizontal deployment of clonally related cells in the primate neocortex: Relationship to distinct mitotic lineages
-
Kornack D.R., Rakic P. Radial and horizontal deployment of clonally related cells in the primate neocortex: relationship to distinct mitotic lineages. Neuron. 15:1995;311-321
-
(1995)
Neuron
, vol.15
, pp. 311-321
-
-
Kornack, D.R.1
Rakic, P.2
-
12
-
-
0032477722
-
Changes in cell-cycle kinetics during the development and evolution of primate neocortex
-
Kornack D.R., Rakic P. Changes in cell-cycle kinetics during the development and evolution of primate neocortex. Proc Natl Acad Sci U S A. 95(3):1998;1242-1246
-
(1998)
Proc Natl Acad Sci U S a
, vol.95
, Issue.3
, pp. 1242-1246
-
-
Kornack, D.R.1
Rakic, P.2
-
13
-
-
0035066971
-
Molecular genetics of human microcephaly
-
Mochida G.H., Walsh C.A. Molecular genetics of human microcephaly. Curr Opin Neurol. 14(2):2001;151-156
-
(2001)
Curr Opin Neurol
, vol.14
, Issue.2
, pp. 151-156
-
-
Mochida, G.H.1
Walsh, C.A.2
-
14
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
Bond J., Roberts E., Mochida G.H., Hamsphire D.J., Scott S., Askham J.M., et al. ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):2002;316-320
-
(2002)
Nat Genet
, vol.32
, Issue.2
, pp. 316-320
-
-
Bond, J.1
Roberts, E.2
Mochida, G.H.3
Hamsphire, D.J.4
Scott, S.5
Askham, J.M.6
-
15
-
-
0242607170
-
Protein-truncating mutations in ASPM cause variable reduction in brain size
-
Bond J., Scott S., Hampshire D.J., Springell K., Corry P., Abramowicz M.J., et al. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 73(6):2003;1170-1177
-
(2003)
Am J Hum Genet
, vol.73
, Issue.6
, pp. 1170-1177
-
-
Bond, J.1
Scott, S.2
Hampshire, D.J.3
Springell, K.4
Corry, P.5
Abramowicz, M.J.6
-
16
-
-
0032231397
-
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
-
Jackson A.P., McHale D.P., Campbell D.A., Jafri H., Rashid Y., Mannan J., et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet. 63(2):1998;541-546
-
(1998)
Am J Hum Genet
, vol.63
, Issue.2
, pp. 541-546
-
-
Jackson, A.P.1
McHale, D.P.2
Campbell, D.A.3
Jafri, H.4
Rashid, Y.5
Mannan, J.6
-
17
-
-
0032752596
-
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
-
McHale D., Markham A., Lench N.J., Deeble V.J., Mannan J., Rashid Y., et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet. 7:1999;815-820
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 815-820
-
-
McHale, D.1
Markham, A.2
Lench, N.J.3
Deeble, V.J.4
Mannan, J.5
Rashid, Y.6
-
18
-
-
0033912946
-
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
-
Moynihan L., Jackson A.P., Roberts E., Karbani G., Lewis I., Corry P., et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet. 66(2):2000;724-727
-
(2000)
Am J Hum Genet
, vol.66
, Issue.2
, pp. 724-727
-
-
Moynihan, L.1
Jackson, A.P.2
Roberts, E.3
Karbani, G.4
Lewis, I.5
Corry, P.6
-
19
-
-
0033660432
-
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
-
Pattison L., Crow Y.J., Deeble V.J., Jackson A.P., Jafri H., Rashid Y., et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet. 67(6):2000;1578-1580
-
(2000)
Am J Hum Genet
, vol.67
, Issue.6
, pp. 1578-1580
-
-
Pattison, L.1
Crow, Y.J.2
Deeble, V.J.3
Jackson, A.P.4
Jafri, H.5
Rashid, Y.6
-
20
-
-
0032752596
-
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
-
Roberts E., Jackson A.P., Carradice A.C., Deeble V.J., Mannan J., Rashid Y., et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet. 7(7):1999;815-820
-
(1999)
Eur J Hum Genet
, vol.7
, Issue.7
, pp. 815-820
-
-
Roberts, E.1
Jackson, A.P.2
Carradice, A.C.3
Deeble, V.J.4
Mannan, J.5
Rashid, Y.6
-
21
-
-
0033361792
-
Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15 [letter]
-
Jamieson C.R., Govaerts C., Abramowicz M.J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15 [letter]. Am J Hum Genet. 65(5):1999;1465-1469
-
(1999)
Am J Hum Genet
, vol.65
, Issue.5
, pp. 1465-1469
-
-
Jamieson, C.R.1
Govaerts, C.2
Abramowicz, M.J.3
-
22
-
-
0033659637
-
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
-
Jamieson C.R., Fryns J.P., Jacobs J., Matthijs G., Abramowicz M.J. primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet. 67(6):2000;1575-1577
-
(2000)
Am J Hum Genet
, vol.67
, Issue.6
, pp. 1575-1577
-
-
Jamieson, C.R.1
Fryns, J.P.2
Jacobs, J.3
Matthijs, G.4
Abramowicz, M.J.5
-
23
-
-
0038163514
-
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
-
Leal G.F., Roberts E., Silva E.O., Costa S.M., Hamsphire D.J., Woods C.G. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet. 40(7):2003;540-542
-
(2003)
J Med Genet
, vol.40
, Issue.7
, pp. 540-542
-
-
Leal, G.F.1
Roberts, E.2
Silva, E.O.3
Costa, S.M.4
Hamsphire, D.J.5
Woods, C.G.6
-
24
-
-
18644367387
-
Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
-
Roberts E., Hampshire D.J., Pattison L., Springell K., Jafri H., Corry P., et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet. 39(10):2002;718-721
-
(2002)
J Med Genet
, vol.39
, Issue.10
, pp. 718-721
-
-
Roberts, E.1
Hampshire, D.J.2
Pattison, L.3
Springell, K.4
Jafri, H.5
Corry, P.6
-
25
-
-
0031869221
-
Microlissencephaly: A heterogeneous malformation of cortical development
-
Barkovich A.J., Ferriero D.M., Barr R.M., Gressens P., Dobyns W.B., Truwit C.L., et al. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):1998;113-119
-
(1998)
Neuropediatrics
, vol.29
, Issue.3
, pp. 113-119
-
-
Barkovich, A.J.1
Ferriero, D.M.2
Barr, R.M.3
Gressens, P.4
Dobyns, W.B.5
Truwit, C.L.6
-
26
-
-
0029000061
-
Lissencephaly and other malformations of cortical development: 1995 update
-
Dobyns W.B., Truwit C.L. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 26(3):1995;132-147
-
(1995)
Neuropediatrics
, vol.26
, Issue.3
, pp. 132-147
-
-
Dobyns, W.B.1
Truwit, C.L.2
-
27
-
-
0032955891
-
Microcephaly with simplified gyral pattern in six related children
-
Peiffer A., Singh N., Leppert M., Dobyns W.B., Carey J.C. Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 84(2):1999;137-144
-
(1999)
Am J Med Genet
, vol.84
, Issue.2
, pp. 137-144
-
-
Peiffer, A.1
Singh, N.2
Leppert, M.3
Dobyns, W.B.4
Carey, J.C.5
-
28
-
-
0033060614
-
Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly [reply]
-
Dobyns W.B., Barkovich A.J. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly [reply]. Neuropediatrics. 30:1999;104-106
-
(1999)
Neuropediatrics
, vol.30
, pp. 104-106
-
-
Dobyns, W.B.1
Barkovich, A.J.2
-
29
-
-
0036563399
-
Hemimegalencephaly: Part 1. Genetic, clinical, and imaging aspects
-
discussion: 384
-
Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol. 17(5):2002;373-384. discussion: 384
-
(2002)
J Child Neurol
, vol.17
, Issue.5
, pp. 373-384
-
-
Flores-Sarnat, L.1
-
30
-
-
0346882728
-
Hemimegalencephaly: Part 2. Neuropathology suggests a disorder of cellular lineage
-
Flores-Sarnat L., Sarnat H.B., Davila-Gutierrez G., Alvarez A. Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage. J Child Neurol. 18(11):2003;776-785
-
(2003)
J Child Neurol
, vol.18
, Issue.11
, pp. 776-785
-
-
Flores-Sarnat, L.1
Sarnat, H.B.2
Davila-Gutierrez, G.3
Alvarez, A.4
-
31
-
-
0026540749
-
Neuropathologic findings in cortical resections (including hemispherectomies) performed for the treatment of intractable childhood epilepsy
-
Farrell M.A., DeRosa M.J., Curran J.G., Secor D.L., Cornford M.E., Comair Y.G., et al. Neuropathologic findings in cortical resections (including hemispherectomies) performed for the treatment of intractable childhood epilepsy. Acta Neuropathol (Berl). 83:1992;246-259
-
(1992)
Acta Neuropathol (Berl)
, vol.83
, pp. 246-259
-
-
Farrell, M.A.1
Derosa, M.J.2
Curran, J.G.3
Secor, D.L.4
Cornford, M.E.5
Comair, Y.G.6
-
32
-
-
0037369413
-
Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence
-
Devlin A.M., Cross J.H., Harkness W., Chong W.K., Harding B., Vargha-Kadem F., et al. Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence. Brain. 126(Pt 3):2003;556-566
-
(2003)
Brain
, vol.126
, Issue.PART 3
, pp. 556-566
-
-
Devlin, A.M.1
Cross, J.H.2
Harkness, W.3
Chong, W.K.4
Harding, B.5
Vargha-Kadem, F.6
-
35
-
-
0026606026
-
Nonlissencephalic cortical dysplasias: Correlation of imaging findings with clinical deficits
-
Barkovich A.J., Kjos B.O. Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol. 13:1992;95-103
-
(1992)
AJNR Am J Neuroradiol
, vol.13
, pp. 95-103
-
-
Barkovich, A.J.1
Kjos, B.O.2
-
36
-
-
0039712065
-
Mutation and childhood cancer: A probabilistic model for the incidence of retinoblastoma
-
Knudson A.G. Jr., Hethcote H.W., Brown B.W. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci U S A. 72(12):1975;5116-5120
-
(1975)
Proc Natl Acad Sci U S a
, vol.72
, Issue.12
, pp. 5116-5120
-
-
Knudson Jr., A.G.1
Hethcote, H.W.2
Brown, B.W.3
-
37
-
-
0030639826
-
Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions
-
Wolf H.K., Normann S., Green A.J., von Bakel I., Blumcke I., Pietsch T., et al. Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions. Acta Neuropathol (Berl). 93(1):1997;93-96
-
(1997)
Acta Neuropathol (Berl)
, vol.93
, Issue.1
, pp. 93-96
-
-
Wolf, H.K.1
Normann, S.2
Green, A.J.3
Von Bakel, I.4
Blumcke, I.5
Pietsch, T.6
-
38
-
-
0028893130
-
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas
-
Henske E.P., Neumann H.P., Scheithauer B.W., Herbst E.W., Short M.P., Kwiatkowski D.J. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer. 13(4):1995;295-298
-
(1995)
Genes Chromosomes Cancer
, vol.13
, Issue.4
, pp. 295-298
-
-
Henske, E.P.1
Neumann, H.P.2
Scheithauer, B.W.3
Herbst, E.W.4
Short, M.P.5
Kwiatkowski, D.J.6
-
39
-
-
0347626243
-
Tuberous sclerosis complex: Genetics to pathogenesis
-
Narayanan V. Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol. 29(5):2003;404-409
-
(2003)
Pediatr Neurol
, vol.29
, Issue.5
, pp. 404-409
-
-
Narayanan, V.1
-
40
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M., de Hoogt R., Hermans C., Nellist M., Janssen B., Verhoef S., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 277(5327):1997;805-808
-
(1997)
Science
, vol.277
, Issue.5327
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
-
41
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium T Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 75:1993;1305-1315
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
43
-
-
0032852858
-
Focal cortical dysplasia: A neuropathological and developmental perspective
-
Cotter D.R., Honavar M., Everall I. Focal cortical dysplasia: a neuropathological and developmental perspective. Epilepsy Res. 36(2-3):1999;155-164
-
(1999)
Epilepsy Res
, vol.36
, Issue.23
, pp. 155-164
-
-
Cotter, D.R.1
Honavar, M.2
Everall, I.3
-
44
-
-
0025785297
-
Cerebral dysplasias as expressions of altered maturational processes
-
Sarnat H.B. Cerebral dysplasias as expressions of altered maturational processes. Can J Neurol Sci. 18(2):1991;196-204
-
(1991)
Can J Neurol Sci
, vol.18
, Issue.2
, pp. 196-204
-
-
Sarnat, H.B.1
-
45
-
-
0000378066
-
Epilepsy due to focal cortical dysplasia with macrogyria and the forme fruste of tuberous sclerosis: A study of fifteen patients
-
P. Wolf, M. Dam, D. Janz, & F. Dreifus. New York: Raven Press
-
Andermann F., Olivier A., Melanson D., Robitaille Y. Epilepsy due to focal cortical dysplasia with macrogyria and the forme fruste of tuberous sclerosis: a study of fifteen patients. Wolf P., Dam M., Janz D., Dreifus F. Advances in epileptology: the 16th Epilepsy International Symposium. 1987;35-38 Raven Press, New York
-
(1987)
Advances in Epileptology: The 16th Epilepsy International Symposium
, pp. 35-38
-
-
Andermann, F.1
Olivier, A.2
Melanson, D.3
Robitaille, Y.4
-
46
-
-
0036294216
-
Focal cortical dysplasia of Taylor's balloon cell type: Mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis
-
Becker A.J., Urbach H., Scheffler B., Baden T.A., Normann S., Lahl R., et al. Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol. 52(1):2002;29-37
-
(2002)
Ann Neurol
, vol.52
, Issue.1
, pp. 29-37
-
-
Becker, A.J.1
Urbach, H.2
Scheffler, B.3
Baden, T.A.4
Normann, S.5
Lahl, R.6
-
47
-
-
0000541396
-
Schizencephalies: A study of the congenital clefts in the cerebral mantle
-
Yakovlev P.I., Wadsworth R.C. Schizencephalies: a study of the congenital clefts in the cerebral mantle. J Neuropath Exp Neurol. 5:1946;169-202
-
(1946)
J Neuropath Exp Neurol
, vol.5
, pp. 169-202
-
-
Yakovlev, P.I.1
Wadsworth, R.C.2
-
48
-
-
0033694912
-
Schizencephaly: Clinical and imaging features in 30 infantile cases
-
Denis D., Chateil J.F., Brun M., Brissand O., Lacombe D., Fontan D., et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):2000;475-483
-
(2000)
Brain Dev
, vol.22
, Issue.8
, pp. 475-483
-
-
Denis, D.1
Chateil, J.F.2
Brun, M.3
Brissand, O.4
Lacombe, D.5
Fontan, D.6
-
49
-
-
0342813139
-
Schizencephaly: Correlations of clinical and radiologic features
-
Packard A.M., Miller V.S., Delgado M.R. Schizencephaly: correlations of clinical and radiologic features. Neurology. 48(5):1997;1427-1434
-
(1997)
Neurology
, vol.48
, Issue.5
, pp. 1427-1434
-
-
Packard, A.M.1
Miller, V.S.2
Delgado, M.R.3
-
50
-
-
0030065606
-
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
-
Brunelli S., Faiella A., Capra V., Nigro V., Simeone A., Cama A., et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 12(1):1996;94-96
-
(1996)
Nat Genet
, vol.12
, Issue.1
, pp. 94-96
-
-
Brunelli, S.1
Faiella, A.2
Capra, V.3
Nigro, V.4
Simeone, A.5
Cama, A.6
-
51
-
-
0030707886
-
A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2
-
Faiella A., Brunelli S., Granata T., D'Incerti L., Cardini R., Lenti C., et al. A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet. 5(4):1997;186-190
-
(1997)
Eur J Hum Genet
, vol.5
, Issue.4
, pp. 186-190
-
-
Faiella, A.1
Brunelli, S.2
Granata, T.3
D'Incerti, L.4
Cardini, R.5
Lenti, C.6
-
52
-
-
0036265092
-
Epileptogenic brain malformations: Clinical presentation, malformative patterns and indications for genetic testing
-
quiz; 544-7
-
Guerrini R., Carrozzo R. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure. 11(Suppl A):2002;532-543. quiz; 544-7
-
(2002)
Seizure
, vol.11
, Issue.SUPPL. A
, pp. 532-543
-
-
Guerrini, R.1
Carrozzo, R.2
-
53
-
-
0036591672
-
Smooth, rough and upside-down neocortical development
-
Olson E.C., Walsh C.A. Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev. 12(3):2002;320-327
-
(2002)
Curr Opin Genet Dev
, vol.12
, Issue.3
, pp. 320-327
-
-
Olson, E.C.1
Walsh, C.A.2
-
54
-
-
0014990198
-
Early prenatal ontogenesis of the cerebral cortex (neocortex) of the cat (Felis Domestica). A Golgi study. I. The primordial neocortical organization
-
Marin-Padilla M. Early prenatal ontogenesis of the cerebral cortex (neocortex) of the cat (Felis Domestica). A Golgi study. I. The primordial neocortical organization. Z Anat Entwicklungsgesch. 134:1971;117-145
-
(1971)
Z Anat Entwicklungsgesch
, vol.134
, pp. 117-145
-
-
Marin-Padilla, M.1
-
55
-
-
0017847944
-
Dual origin of the mammalian neocortex and evolution of the cortical plate
-
Marin-Padilla M. Dual origin of the mammalian neocortex and evolution of the cortical plate. Anat Embryol. 152:1978;109-126
-
(1978)
Anat Embryol
, vol.152
, pp. 109-126
-
-
Marin-Padilla, M.1
-
56
-
-
0344334400
-
Autoradiographic study of cell migration during histogenesis of cerebral cortex in the mouse
-
Angevine J.B. Jr., Sidman R.L. Autoradiographic study of cell migration during histogenesis of cerebral cortex in the mouse. Nature. 192:1961;766-768
-
(1961)
Nature
, vol.192
, pp. 766-768
-
-
Angevine Jr., J.B.1
Sidman, R.L.2
-
57
-
-
0026567180
-
Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations
-
Barkovich A.J., Kjos B. Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations. Radiology. 182:1992;483-499
-
(1992)
Radiology
, vol.182
, pp. 483-499
-
-
Barkovich, A.J.1
Kjos, B.2
-
58
-
-
0030027091
-
Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
-
Eksioglu Y.Z., Scheffer I.E., Cardenas P., Knoll J., DiMario F., Ramsby G., et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron. 16:1996;77-87
-
(1996)
Neuron
, vol.16
, pp. 77-87
-
-
Eksioglu, Y.Z.1
Scheffer, I.E.2
Cardenas, P.3
Knoll, J.4
Dimario, F.5
Ramsby, G.6
-
59
-
-
0036938317
-
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: Widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex
-
Kakita A., Hayashi S., Moro F., Guerrini R., Ozawa T., Ono K., et al. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Acta Neuropathol (Berl). 104(6):2002;649-657
-
(2002)
Acta Neuropathol (Berl)
, vol.104
, Issue.6
, pp. 649-657
-
-
Kakita, A.1
Hayashi, S.2
Moro, F.3
Guerrini, R.4
Ozawa, T.5
Ono, K.6
-
60
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
Fox J.W., Lamperti E.D., Eksioglu Y.Z., Hong S.E., Feng Y., Graham D.A., et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 21(6):1998;1315-1325
-
(1998)
Neuron
, vol.21
, Issue.6
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
Hong, S.E.4
Feng, Y.5
Graham, D.A.6
-
61
-
-
0035880455
-
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
-
Sheen V.L., Dixon P.H., Fox J.W., Hong S.E., Kinton L., Sisodiya S.M., et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 10(17):2001;1775-1783
-
(2001)
Hum Mol Genet
, vol.10
, Issue.17
, pp. 1775-1783
-
-
Sheen, V.L.1
Dixon, P.H.2
Fox, J.W.3
Hong, S.E.4
Kinton, L.5
Sisodiya, S.M.6
-
62
-
-
0033365297
-
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex
-
Fox J.W., Walsh C.A. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet. 65(1):1999;19-24
-
(1999)
Am J Hum Genet
, vol.65
, Issue.1
, pp. 19-24
-
-
Fox, J.W.1
Walsh, C.A.2
-
63
-
-
0018895694
-
Distribution of actin-binding protein and myosin in macrophages during spreading and phagocytosis
-
Stendahl O., Hartwig J., Brotschi E., Stossel T.P. Distribution of actin-binding protein and myosin in macrophages during spreading and phagocytosis. J Cell Biol. 84:1980;215-224
-
(1980)
J Cell Biol
, vol.84
, pp. 215-224
-
-
Stendahl, O.1
Hartwig, J.2
Brotschi, E.3
Stossel, T.P.4
-
64
-
-
0026543374
-
Actin-binding protein requirement for cortical stability and efficient locomotion
-
Cunningham C., Gorlin J., Kwiatkowski D., Hartwig J.H., Janmey P.A., Byers H.R., et al. Actin-binding protein requirement for cortical stability and efficient locomotion. Science. 255:1992;325-327
-
(1992)
Science
, vol.255
, pp. 325-327
-
-
Cunningham, C.1
Gorlin, J.2
Kwiatkowski, D.3
Hartwig, J.H.4
Janmey, P.A.5
Byers, H.R.6
-
65
-
-
0036848255
-
Filamin a and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact
-
Sheen V.L., Feng Y., Graham D., Takafuta T., Shapiro S.S., Walsh C.A. Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 11(23):2002;2845-2854
-
(2002)
Hum Mol Genet
, vol.11
, Issue.23
, pp. 2845-2854
-
-
Sheen, V.L.1
Feng, Y.2
Graham, D.3
Takafuta, T.4
Shapiro, S.S.5
Walsh, C.A.6
-
66
-
-
0037426404
-
Autosomal recessive form of periventricular heterotopia
-
Sheen V.L., Topcu M., Berkovic S., et al. Autosomal recessive form of periventricular heterotopia. Neurology. 60(7):2003;1108-1112
-
(2003)
Neurology
, vol.60
, Issue.7
, pp. 1108-1112
-
-
Sheen, V.L.1
Topcu, M.2
Berkovic, S.3
-
67
-
-
9144274368
-
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
-
Sheen V.L., Ganesh V.S., Topcu M., Sebire G., Bodell A., Hill R.S., et al. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 36(1):2004;69-76
-
(2004)
Nat Genet
, vol.36
, Issue.1
, pp. 69-76
-
-
Sheen, V.L.1
Ganesh, V.S.2
Topcu, M.3
Sebire, G.4
Bodell, A.5
Hill, R.S.6
-
68
-
-
0037465847
-
Periventricular heterotopia associated with chromosome 5p anomalies
-
Sheen V.L., Wheless J.W., Bodell A., Braverman E., Cotter P.D., Rauen K.A., et al. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 60(6):2003;1033-1036
-
(2003)
Neurology
, vol.60
, Issue.6
, pp. 1033-1036
-
-
Sheen, V.L.1
Wheless, J.W.2
Bodell, A.3
Braverman, E.4
Cotter, P.D.5
Rauen, K.A.6
-
69
-
-
0025734430
-
The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
-
Barkovich A.J., Koch T.K., Carrol C.L. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol. 30(2):1991;139-146
-
(1991)
Ann Neurol
, vol.30
, Issue.2
, pp. 139-146
-
-
Barkovich, A.J.1
Koch, T.K.2
Carrol, C.L.3
-
70
-
-
0027486966
-
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
-
Dobyns W.B., Reiner O., Carrozzo R., Ledbetter D.H. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 270(23):1993;2838-2842
-
(1993)
JAMA
, vol.270
, Issue.23
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
Ledbetter, D.H.4
-
71
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
-
Reiner O., Carrozzo R., Shen Y., Wehnert M., Faustinella F., Dobyns W.B., et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 364(6439):1993;717-721
-
(1993)
Nature
, vol.364
, Issue.6439
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
Wehnert, M.4
Faustinella, F.5
Dobyns, W.B.6
-
72
-
-
0031848149
-
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
-
Hirotsune S., Fleck M.W., Gambello M.J., Bix G.J., Chen A., Clark G.D., et al. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet. 19(4):1998;333-339
-
(1998)
Nat Genet
, vol.19
, Issue.4
, pp. 333-339
-
-
Hirotsune, S.1
Fleck, M.W.2
Gambello, M.J.3
Bix, G.J.4
Chen, A.5
Clark, G.D.6
-
73
-
-
0033778276
-
Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport
-
Liu Z., Steward R., Luo L. Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport. Nat Cell Biol. 2(11):2000;776-783
-
(2000)
Nat Cell Biol
, vol.2
, Issue.11
, pp. 776-783
-
-
Liu, Z.1
Steward, R.2
Luo, L.3
-
74
-
-
0030921874
-
Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex
-
Clark G.D., Mizuguchi M., Antalffy B., Barnes J., Armstrong D. Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex. J Neuropathol Exp Neurol. 56(9):1997;1044-1052
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, Issue.9
, pp. 1044-1052
-
-
Clark, G.D.1
Mizuguchi, M.2
Antalffy, B.3
Barnes, J.4
Armstrong, D.5
-
75
-
-
0033769717
-
Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1
-
Smith D.S., Niethammer M., Ayala R., Zhou Y., Gambello M.J., Wynshaw-Boris A., et al. Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. Nat Cell Biol. 2(11):2000;767-775
-
(2000)
Nat Cell Biol
, vol.2
, Issue.11
, pp. 767-775
-
-
Smith, D.S.1
Niethammer, M.2
Ayala, R.3
Zhou, Y.4
Gambello, M.J.5
Wynshaw-Boris, A.6
-
76
-
-
0034517593
-
LIS1 Regulates CNS lamination by interacting with mNudE, a central component of the centrosome
-
Feng Y., Olson E.C., Stukenberg P.T., Flanagan L.A., Kirschner M.W., Walsh C.A. LIS1 Regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 28(3):2000;665-679
-
(2000)
Neuron
, vol.28
, Issue.3
, pp. 665-679
-
-
Feng, Y.1
Olson, E.C.2
Stukenberg, P.T.3
Flanagan, L.A.4
Kirschner, M.W.5
Walsh, C.A.6
-
77
-
-
0034520597
-
A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system
-
Sasaki S., Shionoya A., Ishida M., Gambello M.J., Yingling J., Wynshaw-Boris A., et al. A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. Neuron. 28(3):2000;681-696
-
(2000)
Neuron
, vol.28
, Issue.3
, pp. 681-696
-
-
Sasaki, S.1
Shionoya, A.2
Ishida, M.3
Gambello, M.J.4
Yingling, J.5
Wynshaw-Boris, A.6
-
78
-
-
0037336882
-
Multiple dose-dependent effects of Lis1 on cerebral cortical development
-
Gambello M.J., Darling D.L., Yingling J., Tanaka T., Gleeson J.G., Wyshaw-Boris A. Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci. 23(5):2003;1719-1729
-
(2003)
J Neurosci
, vol.23
, Issue.5
, pp. 1719-1729
-
-
Gambello, M.J.1
Darling, D.L.2
Yingling, J.3
Tanaka, T.4
Gleeson, J.G.5
Wyshaw-Boris, A.6
-
79
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
Gleeson J.G., Allen K.M., Fox J.W., Lamperti E.D., Berkovic S., Scheffer I., et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 92(1):1998;63-72
-
(1998)
Cell
, vol.92
, Issue.1
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
Lamperti, E.D.4
Berkovic, S.5
Scheffer, I.6
-
80
-
-
7144222745
-
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
-
des Portes V., Francis F., Pinard J.M., Desguerre I., Moutard M.L., Snoeck I., et al. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet. 7(7):1998;1063-1070
-
(1998)
Hum Mol Genet
, vol.7
, Issue.7
, pp. 1063-1070
-
-
Des Portes, V.1
Francis, F.2
Pinard, J.M.3
Desguerre, I.4
Moutard, M.L.5
Snoeck, I.6
-
81
-
-
0033842461
-
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
-
Gleeson J.G., Minnerath S., Kuzniecky R.I., Dobyns W.B., Young I.D., Ross M.E., et al. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 67(3):2000;574-581
-
(2000)
Am J Hum Genet
, vol.67
, Issue.3
, pp. 574-581
-
-
Gleeson, J.G.1
Minnerath, S.2
Kuzniecky, R.I.3
Dobyns, W.B.4
Young, I.D.5
Ross, M.E.6
-
82
-
-
0024513173
-
Band heterotopias: A newly recognized neuronal migration anomaly
-
Barkovich A.J., Jackson D.E. Jr., Boyer R.S. Band heterotopias: a newly recognized neuronal migration anomaly. Radiology. 171(2):1989;455-458
-
(1989)
Radiology
, vol.171
, Issue.2
, pp. 455-458
-
-
Barkovich, A.J.1
Jackson Jr., D.E.2
Boyer, R.S.3
-
83
-
-
0028024069
-
Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
-
Barkovich A.J., Guerrini R., Battaglia G., Kalifa G., N'Guyen T., Parmeggiani A., et al. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol. 36(4):1994;609-617
-
(1994)
Ann Neurol
, vol.36
, Issue.4
, pp. 609-617
-
-
Barkovich, A.J.1
Guerrini, R.2
Battaglia, G.3
Kalifa, G.4
N'Guyen, T.5
Parmeggiani, A.6
-
84
-
-
0033152450
-
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
-
Gleeson J.G., Lin P.T., Flanagan L.A., Walsh C.A. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 23(2):1999;257-271
-
(1999)
Neuron
, vol.23
, Issue.2
, pp. 257-271
-
-
Gleeson, J.G.1
Lin, P.T.2
Flanagan, L.A.3
Walsh, C.A.4
-
85
-
-
0034703283
-
Interaction between LIS1 and doublecortin, two lissencephaly gene products
-
Caspi M., Atlas R., Kantor A., Sapir T., Reiner O. Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet. 9(15):2000;2205-2213
-
(2000)
Hum Mol Genet
, vol.9
, Issue.15
, pp. 2205-2213
-
-
Caspi, M.1
Atlas, R.2
Kantor, A.3
Sapir, T.4
Reiner, O.5
-
86
-
-
0036892528
-
Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement
-
Meyer G., Perez-Garcia C.G., Gleeson J.G. Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement. Cereb Cortex. 12(12):2002;1225-1236
-
(2002)
Cereb Cortex
, vol.12
, Issue.12
, pp. 1225-1236
-
-
Meyer, G.1
Perez-Garcia, C.G.2
Gleeson, J.G.3
-
87
-
-
0037781681
-
ARX mutations in X-linked lissencephaly with abnormal genitalia
-
Uyanik G., Aigner L., Martin P., Gross C., Neumann D., Marschner-Schafer H., et al. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 61(2):2003;232-235
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 232-235
-
-
Uyanik, G.1
Aigner, L.2
Martin, P.3
Gross, C.4
Neumann, D.5
Marschner-Schafer, H.6
-
88
-
-
0036844387
-
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
-
Kitamura K., Yanazawa M., Sugiyama N., Miura H., Iizuka-Kogo A., Kusaka M., et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 32(3):2002;359-369
-
(2002)
Nat Genet
, vol.32
, Issue.3
, pp. 359-369
-
-
Kitamura, K.1
Yanazawa, M.2
Sugiyama, N.3
Miura, H.4
Iizuka-Kogo, A.5
Kusaka, M.6
-
89
-
-
0036020705
-
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
-
Stromme P., Mangelsdorf M.E., Scheffer I.E., Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev. 24(5):2002;266-268
-
(2002)
Brain Dev
, vol.24
, Issue.5
, pp. 266-268
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Scheffer, I.E.3
Gecz, J.4
-
90
-
-
0037090887
-
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
-
Bienvenu T., Poirier K., Friocourt G., Bahi N., Beaumont D., Fauchereau F., et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Gene. 11(8):2002;981-991
-
(2002)
Hum Mol Gene
, vol.11
, Issue.8
, pp. 981-991
-
-
Bienvenu, T.1
Poirier, K.2
Friocourt, G.3
Bahi, N.4
Beaumont, D.5
Fauchereau, F.6
-
91
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
Stromme P., Mangelsdorf M.E., Shaw M.A., Lower K.M., Lewis S.M., Bruyere H., et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 30(4):2002;441-445
-
(2002)
Nat Genet
, vol.30
, Issue.4
, pp. 441-445
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Shaw, M.A.3
Lower, K.M.4
Lewis, S.M.5
Bruyere, H.6
-
92
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
Hong S.E., Shugart Y.Y., Huang D.T., Shahwan S.A., Grant P.E., Hourihane J.O., et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 26(1):2000;93-96
-
(2000)
Nat Genet
, vol.26
, Issue.1
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
Shahwan, S.A.4
Grant, P.E.5
Hourihane, J.O.6
-
93
-
-
0017291251
-
Lissencephaly
-
Norman M.G., Roberts M., Sirois J., Tremblay L.J. Lissencephaly. Can J Neurol Sci. 3(1):1976;39-46
-
(1976)
Can J Neurol Sci
, vol.3
, Issue.1
, pp. 39-46
-
-
Norman, M.G.1
Roberts, M.2
Sirois, J.3
Tremblay, L.J.4
-
94
-
-
0032231712
-
Neuroimaging manifestations and classification of congenital muscular dystrophies
-
Barkovich A.J. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1998;1389-1396
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, Issue.8
, pp. 1389-1396
-
-
Barkovich, A.J.1
-
95
-
-
0037010428
-
Defective glycosylation in muscular dystrophy
-
Muntoni F., Brockington M., Blake D.J., Torelli S., Brown S.C. Defective glycosylation in muscular dystrophy. Lancet. 360(9343):2002;1419-1421
-
(2002)
Lancet
, vol.360
, Issue.9343
, pp. 1419-1421
-
-
Muntoni, F.1
Brockington, M.2
Blake, D.J.3
Torelli, S.4
Brown, S.C.5
-
96
-
-
1842467267
-
Glycosylation in congenital muscular dystrophies
-
Endo T., Toda T. Glycosylation in congenital muscular dystrophies. Biol Pharm Bull. 26(12):2003;1641-1647
-
(2003)
Biol Pharm Bull
, vol.26
, Issue.12
, pp. 1641-1647
-
-
Endo, T.1
Toda, T.2
-
97
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome [see comments]
-
Dobyns W.B., Pagon R.A., Armstrong D., Curry C.J., Greenberg F., Grix A., et al. Diagnostic criteria for Walker-Warburg syndrome [see comments]. Am J Med Genet. 32(2):1989;195-210
-
(1989)
Am J Med Genet
, vol.32
, Issue.2
, pp. 195-210
-
-
Dobyns, W.B.1
Pagon, R.A.2
Armstrong, D.3
Curry, C.J.4
Greenberg, F.5
Grix, A.6
-
98
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., Celli J., van Beusekom E., van der Zwaag B., et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 71(5):2002;1033-1043
-
(2002)
Am J Hum Genet
, vol.71
, Issue.5
, pp. 1033-1043
-
-
Beltran-Valero De Bernabe, D.1
Currier, S.2
Steinbrecher, A.3
Celli, J.4
Van Beusekom, E.5
Van Der Zwaag, B.6
-
99
-
-
0024375162
-
Muscle-eye-brain disease (MEB)
-
Santavuori P., Somer H., Sainio K., Rapola J., Kruus S., Nikitin T., et al. Muscle-eye-brain disease (MEB). Brain Dev. 11(3):1989;147-153
-
(1989)
Brain Dev
, vol.11
, Issue.3
, pp. 147-153
-
-
Santavuori, P.1
Somer, H.2
Sainio, K.3
Rapola, J.4
Kruus, S.5
Nikitin, T.6
-
100
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 1(5):2001;717-724
-
(2001)
Dev Cell
, vol.1
, Issue.5
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
Taniguchi, K.4
Kano, H.5
Mizuno, M.6
-
101
-
-
0037340155
-
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
-
Taniguchi K., Kobayashi K., Saito K., Yamanouchi H., Ohnuma A., Hayashi Y.K., et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 12(5):2003;527-534
-
(2003)
Hum Mol Genet
, vol.12
, Issue.5
, pp. 527-534
-
-
Taniguchi, K.1
Kobayashi, K.2
Saito, K.3
Yamanouchi, H.4
Ohnuma, A.5
Hayashi, Y.K.6
-
102
-
-
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. Nat Genet. 5(3):1993;283-286
-
(1993)
Nat Genet
, vol.5
, Issue.3
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
Nonaka, I.4
Masuda, K.5
Ishihara, T.6
-
103
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura Y., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 394:1998;388-392
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
Matsumura, K.4
Kondo-Iida, E.5
Nomura, Y.6
-
104
-
-
1842467268
-
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy
-
Toda T., Kobayashi K., Takeda S., Sasaki J., Kurahashi H., Kano H., et al. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha- dystroglycanopathy. Congenit Anom Kyoto. 43(2):2003;97-104
-
(2003)
Congenit Anom Kyoto
, vol.43
, Issue.2
, pp. 97-104
-
-
Toda, T.1
Kobayashi, K.2
Takeda, S.3
Sasaki, J.4
Kurahashi, H.5
Kano, H.6
-
105
-
-
0037371206
-
A new mutation of the fukutin gene in a non-Japanese patient
-
Silan F., Yoshioka M., Kobayashi K., Simsek E., Tunc M., Alper M., et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol. 53(3):2003;392-396
-
(2003)
Ann Neurol
, vol.53
, Issue.3
, pp. 392-396
-
-
Silan, F.1
Yoshioka, M.2
Kobayashi, K.3
Simsek, E.4
Tunc, M.5
Alper, M.6
-
106
-
-
0037173629
-
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
-
Moore S.A., Saito F., Chen J., Michele D.E., Henry M.D., Messing A., et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 418(6896):2002;422-425
-
(2002)
Nature
, vol.418
, Issue.6896
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
Michele, D.E.4
Henry, M.D.5
Messing, A.6
-
107
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
Michele D.E., Barresi R., Kanagawa M., Saito F., Cohn R.D., Satz J.S., et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 418(6896):2002;417-422
-
(2002)
Nature
, vol.418
, Issue.6896
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
Saito, F.4
Cohn, R.D.5
Satz, J.S.6
-
108
-
-
0038416095
-
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16
-
Chang B.S., Piao X., Bodell A., Basel-Vanagaite L., Straussberg R., Dobyns W.B., et al. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 53(5):2003;596-606
-
(2003)
Ann Neurol
, vol.53
, Issue.5
, pp. 596-606
-
-
Chang, B.S.1
Piao, X.2
Bodell, A.3
Basel-Vanagaite, L.4
Straussberg, R.5
Dobyns, W.B.6
-
109
-
-
18344389160
-
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21
-
Piao X., Basel-Vanagaite L., Straussberg R., Grant P.E., Pugh E.W., Doheny K., et al. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet. 70(4):2002;1028-1033
-
(2002)
Am J Hum Genet
, vol.70
, Issue.4
, pp. 1028-1033
-
-
Piao, X.1
Basel-Vanagaite, L.2
Straussberg, R.3
Grant, P.E.4
Pugh, E.W.5
Doheny, K.6
-
110
-
-
2942528595
-
-
In press
-
Piao X., et al. In press
-
-
-
Piao, X.1
-
111
-
-
0028294602
-
The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study
-
Kuzniecky R., Andermann F., Guerrini R. The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study. Neurology. 44(3 Pt 1):1994;379-385
-
(1994)
Neurology
, vol.44
, Issue.3 PART 1
, pp. 379-385
-
-
Kuzniecky, R.1
Andermann, F.2
Guerrini, R.3
-
112
-
-
0347364661
-
Malformations of cortical development in neurofibromatosis type 1
-
Balestri P., Vivarelli R., Grosso S., Santoro L., Farnetani M.A., Galluzzi P., et al. Malformations of cortical development in neurofibromatosis type 1. Neurology. 61(12):2003;1799-1801
-
(2003)
Neurology
, vol.61
, Issue.12
, pp. 1799-1801
-
-
Balestri, P.1
Vivarelli, R.2
Grosso, S.3
Santoro, L.4
Farnetani, M.A.5
Galluzzi, P.6
-
113
-
-
0344037068
-
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome
-
Powell H.W., Hart P.E., Sisodiya S.M. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol. 45(12):2003;841-843
-
(2003)
Dev Med Child Neurol
, vol.45
, Issue.12
, pp. 841-843
-
-
Powell, H.W.1
Hart, P.E.2
Sisodiya, S.M.3
-
114
-
-
0036201466
-
A locus for bilateral perisylvian polymicrogyria maps to Xq28
-
Villard L., Nguyen K., Cardoso C., Martin C.L., Weiss A.M., Sifry-Platt M., et al. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 70(4):2002;1003-1008
-
(2002)
Am J Hum Genet
, vol.70
, Issue.4
, pp. 1003-1008
-
-
Villard, L.1
Nguyen, K.2
Cardoso, C.3
Martin, C.L.4
Weiss, A.M.5
Sifry-Platt, M.6
|