-
2
-
-
20044390555
-
Neuronal migration in cortical development
-
Kanatani S., Tabata H., and Nakajima K. Neuronal migration in cortical development. J Child Neurol 20 (2005) 274-279
-
(2005)
J Child Neurol
, vol.20
, pp. 274-279
-
-
Kanatani, S.1
Tabata, H.2
Nakajima, K.3
-
3
-
-
33846906295
-
Genetic control of neuronal migrations in human cortical development
-
Meyer G. Genetic control of neuronal migrations in human cortical development. Adv Anat Embryol Cell Biol 189 (2007) 1-111
-
(2007)
Adv Anat Embryol Cell Biol
, vol.189
, pp. 1-111
-
-
Meyer, G.1
-
4
-
-
33644525594
-
Neuronal migration disorders
-
Gressens P. Neuronal migration disorders. J Child Neurol 20 (2005) 968
-
(2005)
J Child Neurol
, vol.20
, pp. 968
-
-
Gressens, P.1
-
5
-
-
33645088966
-
Pathogenesis of migration disorders
-
Gressens P. Pathogenesis of migration disorders. Curr Opin Neurol (2006) 135-140
-
(2006)
Curr Opin Neurol
, pp. 135-140
-
-
Gressens, P.1
-
6
-
-
0030198456
-
Neuronal migrational disorders in children with epilepsy: MRI, interictal SPECT and EEG comparisons
-
Iannetti P., Spalice A., Atzei G., Boemi S., and Trasimeni G. Neuronal migrational disorders in children with epilepsy: MRI, interictal SPECT and EEG comparisons. Brain Dev 18 (1996) 269-279
-
(1996)
Brain Dev
, vol.18
, pp. 269-279
-
-
Iannetti, P.1
Spalice, A.2
Atzei, G.3
Boemi, S.4
Trasimeni, G.5
-
7
-
-
0035956478
-
Classification system for malformations of cortical development
-
Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., and Dobyns W.B. Classification system for malformations of cortical development. Neurology 57 (2001) 2168-2178
-
(2001)
Neurology
, vol.57
, pp. 2168-2178
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
Guerrini, R.4
Dobyns, W.B.5
-
8
-
-
0346979678
-
Lissencephaly: the clinical and molecular genetic basis of diffuse malformation of neuronal migration
-
Barth P.G. (Ed), Mac Keith Press, London
-
Dobyns W.B., and Leventer R.J. Lissencephaly: the clinical and molecular genetic basis of diffuse malformation of neuronal migration. In: Barth P.G. (Ed). International review of child neurology series (2003), Mac Keith Press, London 24-57
-
(2003)
International review of child neurology series
, pp. 24-57
-
-
Dobyns, W.B.1
Leventer, R.J.2
-
9
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
[review]
-
Kato M., and Dobyns W.B. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 12 1 (2003 Apr 1) R89-R96 [review]
-
(2003)
Hum Mol Genet
, vol.12
, Issue.1
-
-
Kato, M.1
Dobyns, W.B.2
-
10
-
-
0029000061
-
Lissencephaly and other malformations of cortical development: 1995 update
-
Dobyns W.B., and Truwit C.L. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 26 (1995) 132-147
-
(1995)
Neuropediatrics
, vol.26
, pp. 132-147
-
-
Dobyns, W.B.1
Truwit, C.L.2
-
11
-
-
0033967577
-
Genetic and neuroradiological heterogeneity of double cortex syndrome
-
Gleeson J.G., Luo R.F., Grant P.E., et al. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 47 2 (2000 Feb) 265-269
-
(2000)
Ann Neurol
, vol.47
, Issue.2
, pp. 265-269
-
-
Gleeson, J.G.1
Luo, R.F.2
Grant, P.E.3
-
12
-
-
38849091345
-
Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division
-
Yingling J., Youn Y.H., Darling D., et al. Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. Cell 132 3 (2008 Feb 8) 474-486
-
(2008)
Cell
, vol.132
, Issue.3
, pp. 474-486
-
-
Yingling, J.1
Youn, Y.H.2
Darling, D.3
-
13
-
-
0036135783
-
Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1)
-
Cardoso C., Leventer R.J., Dowling J.J., et al. Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum Mutat 19 (2002) 4-15
-
(2002)
Hum Mutat
, vol.19
, pp. 4-15
-
-
Cardoso, C.1
Leventer, R.J.2
Dowling, J.J.3
-
14
-
-
0032195408
-
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence
-
Pilz D.T., Macha M.E., Precht K.S., et al. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med 1 (1998) 29-33
-
(1998)
Genet Med
, vol.1
, pp. 29-33
-
-
Pilz, D.T.1
Macha, M.E.2
Precht, K.S.3
-
15
-
-
0034642292
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
-
Cardoso C., Leventer R.J., Matsumoto N., et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9 (2000) 3019-3028
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3019-3028
-
-
Cardoso, C.1
Leventer, R.J.2
Matsumoto, N.3
-
16
-
-
34548074971
-
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
-
Uyanik G., Morris-Rosendahl D.J., Stiegler J., et al. Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology (2007)
-
(2007)
Neurology
-
-
Uyanik, G.1
Morris-Rosendahl, D.J.2
Stiegler, J.3
-
17
-
-
0038757833
-
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome
-
Toyo-oka K., Shionoya A., Gambello M.J., et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet 34 3 (2003 Jul) 274-285
-
(2003)
Nat Genet
, vol.34
, Issue.3
, pp. 274-285
-
-
Toyo-oka, K.1
Shionoya, A.2
Gambello, M.J.3
-
18
-
-
33750974816
-
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly
-
Chabchoub E., de Ravel T., Thoelen R., Vermeesch J.R., Fryns J.P., and Van Esch H. Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clin Genet 70 6 (2006 Dec) 535-537
-
(2006)
Clin Genet
, vol.70
, Issue.6
, pp. 535-537
-
-
Chabchoub, E.1
de Ravel, T.2
Thoelen, R.3
Vermeesch, J.R.4
Fryns, J.P.5
Van Esch, H.6
-
19
-
-
0028021189
-
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene
-
Pinard J.M., Motte J., Chiron C., Brian R., Andermann E., and Dulac O. Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. J Neurol Neurosurg Psychiatr 57 (1994) 914-920
-
(1994)
J Neurol Neurosurg Psychiatr
, vol.57
, pp. 914-920
-
-
Pinard, J.M.1
Motte, J.2
Chiron, C.3
Brian, R.4
Andermann, E.5
Dulac, O.6
-
20
-
-
0033153135
-
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
-
Francis F., Koulakoff A., Boucher D., et al. Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons. Neuron 23 (1999) 247-256
-
(1999)
Neuron
, vol.23
, pp. 247-256
-
-
Francis, F.1
Koulakoff, A.2
Boucher, D.3
-
21
-
-
33644755463
-
Human disorders of cortical development: from past to present
-
Francis F., Meyer G., Fallet-Bianco C., et al. Human disorders of cortical development: from past to present. Eur J Neurosci 23 (2006) 877-893
-
(2006)
Eur J Neurosci
, vol.23
, pp. 877-893
-
-
Francis, F.1
Meyer, G.2
Fallet-Bianco, C.3
-
22
-
-
0033152450
-
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
-
Gleeson J.G., Lin P.T., Flanagan L.A., and Walsh C.A. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 23 (1999) 257-271
-
(1999)
Neuron
, vol.23
, pp. 257-271
-
-
Gleeson, J.G.1
Lin, P.T.2
Flanagan, L.A.3
Walsh, C.A.4
-
23
-
-
35648991438
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
-
Poirier K., Keays D.A., Francis F., et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 28 11 (2007) 1055-1064
-
(2007)
Hum Mutat
, vol.28
, Issue.11
, pp. 1055-1064
-
-
Poirier, K.1
Keays, D.A.2
Francis, F.3
-
24
-
-
36549009913
-
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly
-
Kerjan G., and Gleeson J.G. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet 23 12 (2007 Dec) 623-630
-
(2007)
Trends Genet
, vol.23
, Issue.12
, pp. 623-630
-
-
Kerjan, G.1
Gleeson, J.G.2
-
25
-
-
43449109806
-
Malformations of cortical development
-
Pang T., Atefy R., and Sheen V. Malformations of cortical development. Neurologist 14 3 (2008) 181-191
-
(2008)
Neurologist
, vol.14
, Issue.3
, pp. 181-191
-
-
Pang, T.1
Atefy, R.2
Sheen, V.3
-
26
-
-
42149121434
-
Malformations of cortical development and epilepsy
-
[review]
-
Leventer R.J., Guerrini R., and Dobyns W.B. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 10 1 (2008) 47-62 [review]
-
(2008)
Dialogues Clin Neurosci
, vol.10
, Issue.1
, pp. 47-62
-
-
Leventer, R.J.1
Guerrini, R.2
Dobyns, W.B.3
-
27
-
-
50849083792
-
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
-
Fallet-Bianco C., Loeuillet L., and Poirier K. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 131 (2008) 2304-2320
-
(2008)
Brain
, vol.131
, pp. 2304-2320
-
-
Fallet-Bianco, C.1
Loeuillet, L.2
Poirier, K.3
-
28
-
-
54049085347
-
Refinement of cortical dysgenesis spectrum associated with mutations TUBA1A
-
Bahi-Buisson N., Poirier K., Boddaert N., et al. Refinement of cortical dysgenesis spectrum associated with mutations TUBA1A. J Med Genet 45 (2008) 647-653
-
(2008)
J Med Genet
, vol.45
, pp. 647-653
-
-
Bahi-Buisson, N.1
Poirier, K.2
Boddaert, N.3
-
29
-
-
53949087784
-
Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
-
Morris-Rosendahl D.J., Najm J., Lachmeijer A.M.A., et al. Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 74 (2008) 425-433
-
(2008)
Clin Genet
, vol.74
, pp. 425-433
-
-
Morris-Rosendahl, D.J.1
Najm, J.2
Lachmeijer, A.M.A.3
-
31
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome
-
Holmes L.B., Laxova R., Michels V.V., Robinow M., and Zimmerman R.L. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32 (1989) 195-210
-
(1989)
Am J Med Genet
, vol.32
, pp. 195-210
-
-
Holmes, L.B.1
Laxova, R.2
Michels, V.V.3
Robinow, M.4
Zimmerman, R.L.5
-
32
-
-
39749149082
-
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene
-
Epub 2007 Sep 18
-
Teber S., Sezer T., Kafali M., Manzini M.C., Konuk Yüksel B., Tekin M., et al. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Europ J Paediatr Neurol 12 2 (2008 Mar) 133-136 Epub 2007 Sep 18
-
(2008)
Europ J Paediatr Neurol
, vol.12
, Issue.2
, pp. 133-136
-
-
Teber, S.1
Sezer, T.2
Kafali, M.3
Manzini, M.C.4
Konuk Yüksel, B.5
Tekin, M.6
-
33
-
-
0034794713
-
Epilepsy and genetic malformations of the cerebral cortex
-
Guerrini R., and Carrozzo R. Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 106 (2001) 160-173
-
(2001)
Am J Med Genet
, vol.106
, pp. 160-173
-
-
Guerrini, R.1
Carrozzo, R.2
-
34
-
-
15844409376
-
Glyc-O-genetics of Walker-Warburg syndrome
-
[review]
-
Van Reeuwijk J., Brunner H.G., and Van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 67 4 (2005 Apr) 281-289 [review]
-
(2005)
Clin Genet
, vol.67
, Issue.4
, pp. 281-289
-
-
Van Reeuwijk, J.1
Brunner, H.G.2
Van Bokhoven, H.3
-
35
-
-
4243834586
-
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
-
De Bernabé D.B., van Bokhoven H., van Beusekom E., et al. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 40 (2003) 845-848
-
(2003)
J Med Genet
, vol.40
, pp. 845-848
-
-
De Bernabé, D.B.1
van Bokhoven, H.2
van Beusekom, E.3
-
36
-
-
33646356732
-
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
-
Van Reeuwijk J., Maugenre S., van den Elzen C., et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 27 (2006) 453-459
-
(2006)
Hum Mutat
, vol.27
, pp. 453-459
-
-
Van Reeuwijk, J.1
Maugenre, S.2
van den Elzen, C.3
-
37
-
-
0033360965
-
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
-
Cormand B., Avela K., Pihko H., et al. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 64 (1999) 126-135
-
(1999)
Am J Hum Genet
, vol.64
, pp. 126-135
-
-
Cormand, B.1
Avela, K.2
Pihko, H.3
-
38
-
-
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 5 (1993) 283-286
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
-
39
-
-
44449085738
-
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
-
Epub 2008 Mar 11
-
Oliveira J., Soares-Silva I., Fokkema I., et al. Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J Hum Genet 53 6 (2008) 565-572 Epub 2008 Mar 11
-
(2008)
J Hum Genet
, vol.53
, Issue.6
, pp. 565-572
-
-
Oliveira, J.1
Soares-Silva, I.2
Fokkema, I.3
-
40
-
-
34249873778
-
Genetic and clinical aspects of lissencephaly
-
[review, French]
-
Verloes A., Elmaleh M., Gonzales M., Laquerrière A., and Gressens P. Genetic and clinical aspects of lissencephaly. Rev Neurol (Paris) 163 5 (2007 May) 533-547 [review, French]
-
(2007)
Rev Neurol (Paris)
, vol.163
, Issue.5
, pp. 533-547
-
-
Verloes, A.1
Elmaleh, M.2
Gonzales, M.3
Laquerrière, A.4
Gressens, P.5
-
41
-
-
0025452679
-
Muscle-eye-brain-disease and Walker-Warburg syndrome [letter]
-
Santavuori P., Pihko H., Sainio K., et al. Muscle-eye-brain-disease and Walker-Warburg syndrome [letter]. Am J Med Genet 36 (1990) 371-372
-
(1990)
Am J Med Genet
, vol.36
, pp. 371-372
-
-
Santavuori, P.1
Pihko, H.2
Sainio, K.3
-
42
-
-
37349024015
-
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy
-
Yoshioka M., Higuchi Y., Fujii T., Aiba H., and Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev 30 (2008) 59-67
-
(2008)
Brain Dev
, vol.30
, pp. 59-67
-
-
Yoshioka, M.1
Higuchi, Y.2
Fujii, T.3
Aiba, H.4
Toda, T.5
-
43
-
-
0037781681
-
ARX mutations in X-linked lissencephaly with abnormal genitalia
-
Uyanik L., Aigner P., and Martin C. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology 61 (2003) 232-235
-
(2003)
Neurology
, vol.61
, pp. 232-235
-
-
Uyanik, L.1
Aigner, P.2
Martin, C.3
-
44
-
-
33644786915
-
The role of ARX in cortical development
-
Friocourt G., Poirier K., Rakić S., Parnavelas J.G., and Chelly J. The role of ARX in cortical development. Eur J Neurosci 23 (2006) 869-876
-
(2006)
Eur J Neurosci
, vol.23
, pp. 869-876
-
-
Friocourt, G.1
Poirier, K.2
Rakić, S.3
Parnavelas, J.G.4
Chelly, J.5
-
45
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
Kato M., and Dobyns W.B. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet (2003 Apr 1) 12
-
(2003)
Hum Mol Genet
, pp. 12
-
-
Kato, M.1
Dobyns, W.B.2
-
46
-
-
0345107244
-
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
-
Sherr E.H. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 15 (2003) 567-571
-
(2003)
Curr Opin Pediatr
, vol.15
, pp. 567-571
-
-
Sherr, E.H.1
-
47
-
-
12344318105
-
Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development
-
Seufert D.W., Prescott N.L., and El-Hodiri H.M. Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development. Dev Dyn 232 2 (2005 Feb) 313-324
-
(2005)
Dev Dyn
, vol.232
, Issue.2
, pp. 313-324
-
-
Seufert, D.W.1
Prescott, N.L.2
El-Hodiri, H.M.3
-
48
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
Hong S.E., Shugart Y.Y., Huang D.T., et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26 (2000) 93-96
-
(2000)
Nat Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
-
51
-
-
36549059188
-
Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons
-
Hack I., Hellwig S., Junghans D., Brunne B., Bock H.H., Zhao S., et al. Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons. Development 134 21 (2007 Nov) 3883-3891
-
(2007)
Development
, vol.134
, Issue.21
, pp. 3883-3891
-
-
Hack, I.1
Hellwig, S.2
Junghans, D.3
Brunne, B.4
Bock, H.H.5
Zhao, S.6
-
52
-
-
14944385610
-
Genetic malformations of the cerebral cortex and epilepsy
-
Guerrini R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 46 (2005) 32-37
-
(2005)
Epilepsia
, vol.46
, pp. 32-37
-
-
Guerrini, R.1
-
53
-
-
14644396144
-
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
-
Ozawa H., Takayama C., Nishida A., Nagai T., Nishimura G., and Higurashi M. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 27 3 (2005 Apr) 237-240
-
(2005)
Brain Dev
, vol.27
, Issue.3
, pp. 237-240
-
-
Ozawa, H.1
Takayama, C.2
Nishida, A.3
Nagai, T.4
Nishimura, G.5
Higurashi, M.6
-
54
-
-
0027291035
-
Norman Roberts syndrome: clinical and molecular studies
-
Iannetti P., Schwartz C.E., Dietz-Band J., Light E., Timmerman J., and Chessa L. Norman Roberts syndrome: clinical and molecular studies. Am J Med Genet 47 1 (1993 Aug 1) 95-99
-
(1993)
Am J Med Genet
, vol.47
, Issue.1
, pp. 95-99
-
-
Iannetti, P.1
Schwartz, C.E.2
Dietz-Band, J.3
Light, E.4
Timmerman, J.5
Chessa, L.6
-
55
-
-
51349096514
-
Periventricular nodular heterotopia and epilepsy
-
Giannopoulos S., Pelidou S.H., Giannopoulou M., Tzavidi S., and Kyritsis A.P. Periventricular nodular heterotopia and epilepsy. Intern Med J 38 8 (2008) 675-676
-
(2008)
Intern Med J
, vol.38
, Issue.8
, pp. 675-676
-
-
Giannopoulos, S.1
Pelidou, S.H.2
Giannopoulou, M.3
Tzavidi, S.4
Kyritsis, A.P.5
-
56
-
-
0035065423
-
Functional neuroradiologic investigations in band heterotopia
-
Iannetti P., Spalice A., Raucci U., and Perla M. Functional neuroradiologic investigations in band heterotopia. Pediatr Neurol 24 (2001) 159-163
-
(2001)
Pediatr Neurol
, vol.24
, pp. 159-163
-
-
Iannetti, P.1
Spalice, A.2
Raucci, U.3
Perla, M.4
-
57
-
-
0037797434
-
Stavroula Assimacopoulos5. Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia
-
Ligon K.L., and Yann E. Stavroula Assimacopoulos5. Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia. Development 130 (2003) 2275-2287
-
(2003)
Development
, vol.130
, pp. 2275-2287
-
-
Ligon, K.L.1
Yann, E.2
-
59
-
-
20044391430
-
Neuronal migration disorders, genetics, and epileptogenesis
-
Guerrini R., and Filippi T. Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol 20 (2005) 287-299
-
(2005)
J Child Neurol
, vol.20
, pp. 287-299
-
-
Guerrini, R.1
Filippi, T.2
-
60
-
-
0027233471
-
Neuronal migrational disorders: diffuse cortical dysplasia or the" double cortex" syndrome
-
Iannetti P., Raucci U., Basile L.A., et al. Neuronal migrational disorders: diffuse cortical dysplasia or the" double cortex" syndrome. Acta Paediatr 82 (1993) 501-503
-
(1993)
Acta Paediatr
, vol.82
, pp. 501-503
-
-
Iannetti, P.1
Raucci, U.2
Basile, L.A.3
-
61
-
-
0036845824
-
Subcortical band heterotopia in males: clinical, imaging and genetic findings in comparison with females
-
D'Agostino M.D., Bernasconi A., Das S., et al. Subcortical band heterotopia in males: clinical, imaging and genetic findings in comparison with females. Brain 125 (2002) 2057-2522
-
(2002)
Brain
, vol.125
, pp. 2057-2522
-
-
D'Agostino, M.D.1
Bernasconi, A.2
Das, S.3
-
62
-
-
34249867946
-
Bilateral periventricular nodular heterotopia with amniotic band syndrome
-
Ruggieri M., Spalice A., Polizzi A., Roggini M., and Iannetti P. Bilateral periventricular nodular heterotopia with amniotic band syndrome. Pediatr Neurol 36 6 (2007 Jun) 407-410
-
(2007)
Pediatr Neurol
, vol.36
, Issue.6
, pp. 407-410
-
-
Ruggieri, M.1
Spalice, A.2
Polizzi, A.3
Roggini, M.4
Iannetti, P.5
-
63
-
-
29044440321
-
Overlapping expression of ARFGEF2 and filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia
-
Lu J., Tiao G., Folkerth R., Hecht J., Walsh C., and Sheen V. Overlapping expression of ARFGEF2 and filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol 494 3 (2006 Jan 20) 476-484
-
(2006)
J Comp Neurol
, vol.494
, Issue.3
, pp. 476-484
-
-
Lu, J.1
Tiao, G.2
Folkerth, R.3
Hecht, J.4
Walsh, C.5
Sheen, V.6
-
64
-
-
33645025615
-
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges
-
Battaglia G., Chiapparini L., Franceschetti S., et al. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia 47 (2006) 86-97
-
(2006)
Epilepsia
, vol.47
, pp. 86-97
-
-
Battaglia, G.1
Chiapparini, L.2
Franceschetti, S.3
-
65
-
-
0344033815
-
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
-
Sicca F., Keleman A., Genton P., et al. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61 (2003) 1042-1046
-
(2003)
Neurology
, vol.61
, pp. 1042-1046
-
-
Sicca, F.1
Keleman, A.2
Genton, P.3
-
66
-
-
33846799013
-
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia
-
Mei D., Parrini E., Pasqualetti M., et al. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. Neurology 68 (2007) 446-450
-
(2007)
Neurology
, vol.68
, pp. 446-450
-
-
Mei, D.1
Parrini, E.2
Pasqualetti, M.3
-
67
-
-
0032606081
-
Cortical dysplasias, genetics, and epileptogenesis
-
Guerrini R., Andermann E., Avoli M., and Dobyns W.B. Cortical dysplasias, genetics, and epileptogenesis. Adv Neurol 79 (1999) 95-121
-
(1999)
Adv Neurol
, vol.79
, pp. 95-121
-
-
Guerrini, R.1
Andermann, E.2
Avoli, M.3
Dobyns, W.B.4
-
68
-
-
18844370078
-
Genetics of the polymicrogyria syndromes
-
Jansen A., and Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet 42 (2005) 369-378
-
(2005)
J Med Genet
, vol.42
, pp. 369-378
-
-
Jansen, A.1
Andermann, E.2
-
69
-
-
0036265092
-
Epileptogenic brain malformations: clinical presentation, mal formative patterns and indications for genetic testing
-
Guerrini R., and Carrozzo R. Epileptogenic brain malformations: clinical presentation, mal formative patterns and indications for genetic testing. Seizure 10 (2001) 532-547
-
(2001)
Seizure
, vol.10
, pp. 532-547
-
-
Guerrini, R.1
Carrozzo, R.2
-
70
-
-
33845713193
-
Bilateral perisilvian polymicrogyria in Chiari I malformation
-
Spalice A., Parisi P., Mastrangelo M., et al. Bilateral perisilvian polymicrogyria in Chiari I malformation. Childs Nerv Syst 22 (2006) 1635-1637
-
(2006)
Childs Nerv Syst
, vol.22
, pp. 1635-1637
-
-
Spalice, A.1
Parisi, P.2
Mastrangelo, M.3
-
71
-
-
0034700961
-
Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome
-
Guerrini R., Barkovich A.J., Sztriha L., and Dobyns W.B. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 54 (2000) 909-913
-
(2000)
Neurology
, vol.54
, pp. 909-913
-
-
Guerrini, R.1
Barkovich, A.J.2
Sztriha, L.3
Dobyns, W.B.4
-
72
-
-
0038416095
-
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
-
Chang B.S., Piao X., Bodell A., et al. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 53 (2003) 596-606
-
(2003)
Ann Neurol
, vol.53
, pp. 596-606
-
-
Chang, B.S.1
Piao, X.2
Bodell, A.3
-
73
-
-
0028294602
-
The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS multicenter collaborative study
-
Kuzniecky R., Andermann F., and Guerrini R. The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS multicenter collaborative study. Neurology 44 (1994) 379-385
-
(1994)
Neurology
, vol.44
, pp. 379-385
-
-
Kuzniecky, R.1
Andermann, F.2
Guerrini, R.3
-
74
-
-
18244413664
-
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy
-
Guerrini R., Dubeau F., Dulac O., et al. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 41 (1997) 65-73
-
(1997)
Ann Neurol
, vol.41
, pp. 65-73
-
-
Guerrini, R.1
Dubeau, F.2
Dulac, O.3
-
75
-
-
2442674052
-
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation
-
Chang B.S., Piao X., Giannini C., et al. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology 62 (2004) 1722-1728
-
(2004)
Neurology
, vol.62
, pp. 1722-1728
-
-
Chang, B.S.1
Piao, X.2
Giannini, C.3
-
76
-
-
0032977726
-
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria
-
Caraballo R.H., Cersosimo R.O., and Fejerman N. A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. Epilepsia 40 (1999) 865-871
-
(1999)
Epilepsia
, vol.40
, pp. 865-871
-
-
Caraballo, R.H.1
Cersosimo, R.O.2
Fejerman, N.3
-
77
-
-
32144433872
-
A developmental and genetic classification for malformations of cortical developmental
-
Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., and Dobyns W.B. A developmental and genetic classification for malformations of cortical developmental. Neurology 27 65 (2005) 1873-1887
-
(2005)
Neurology
, vol.27
, Issue.65
, pp. 1873-1887
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
Guerrini, R.4
Dobyns, W.B.5
-
78
-
-
33747594579
-
Genetic malformations of cortical development
-
Guerrini R., and Marini C. Genetic malformations of cortical development. Exp Brain Res 173 (2006) 322-333
-
(2006)
Exp Brain Res
, vol.173
, pp. 322-333
-
-
Guerrini, R.1
Marini, C.2
-
79
-
-
33645115357
-
SRPX2 mutations in disorders of language cortex and cognition
-
Roll P., Rudolf G., Pereira S., et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15 (2006) 1195-1207
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1195-1207
-
-
Roll, P.1
Rudolf, G.2
Pereira, S.3
-
80
-
-
34047107193
-
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
-
Baala L., Briault S., Etchevers H.C., et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet 39 (2007) 454-456
-
(2007)
Nat Genet
, vol.39
, pp. 454-456
-
-
Baala, L.1
Briault, S.2
Etchevers, H.C.3
-
81
-
-
0026606027
-
Schizencephaly and non-lissencephalic cortical dysplasias
-
Barth P.G. Schizencephaly and non-lissencephalic cortical dysplasias. Am J Neuroradiol 13 (1992) 104-106
-
(1992)
Am J Neuroradiol
, vol.13
, pp. 104-106
-
-
Barth, P.G.1
-
82
-
-
0342813139
-
Schizencephaly: correlations of clinical and radiologic features
-
Packard A.M., Miller V.S., and Delgado M.R. Schizencephaly: correlations of clinical and radiologic features. Neurology 48 (1997) 1427-1434
-
(1997)
Neurology
, vol.48
, pp. 1427-1434
-
-
Packard, A.M.1
Miller, V.S.2
Delgado, M.R.3
-
83
-
-
0031915477
-
Cytomegalovirus infection and schizencephaly: case report
-
Iannetti P., Nigro G., Spalice A., Faiella A., and Boncinelli E. Cytomegalovirus infection and schizencephaly: case report. Ann Neurol 43 (1998) 123-127
-
(1998)
Ann Neurol
, vol.43
, pp. 123-127
-
-
Iannetti, P.1
Nigro, G.2
Spalice, A.3
Faiella, A.4
Boncinelli, E.5
-
84
-
-
20044391225
-
Schizencephaly: clinical spectrum, epilepsy, and pathogenesis
-
Granata T., Freri E., Caccia C., Setola V., Taroni F., and Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol 20 4 (2005 Apr) 313-318
-
(2005)
J Child Neurol
, vol.20
, Issue.4
, pp. 313-318
-
-
Granata, T.1
Freri, E.2
Caccia, C.3
Setola, V.4
Taroni, F.5
Battaglia, G.6
-
85
-
-
0030065606
-
Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly
-
Brunelli S., Faiella C.V., et al. Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12 (1996) 94-96
-
(1996)
Nat Genet
, vol.12
, pp. 94-96
-
-
Brunelli, S.1
Faiella, C.V.2
-
86
-
-
0030975567
-
Familial schizencephaly associated with EMX2 mutation
-
Granata T., Farina L., Faiella A., et al. Familial schizencephaly associated with EMX2 mutation. Neurology 48 (1997) 1403-1406
-
(1997)
Neurology
, vol.48
, pp. 1403-1406
-
-
Granata, T.1
Farina, L.2
Faiella, A.3
-
87
-
-
43049108399
-
No major role for the EMX2 gene in schizencephaly
-
Merello E., Swanson E., De Marco P., et al. No major role for the EMX2 gene in schizencephaly. Am J Med Genet A 146A 9 (2008 May 1) 1142-1150
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.9
, pp. 1142-1150
-
-
Merello, E.1
Swanson, E.2
De Marco, P.3
|