-
1
-
-
1342285538
-
Human microcephaly
-
Woods CG: Human microcephaly. Curr Opin Neurobiol 2004;14:112-7.
-
(2004)
Curr Opin Neurobiol
, vol.14
, pp. 112-117
-
-
Woods, C.G.1
-
2
-
-
0021174658
-
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
-
Dobyns WB, Stratton RF, Greenberg F: Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 1984;18: 509-26.
-
(1984)
Am J Med Genet
, vol.18
, pp. 509-526
-
-
Dobyns, W.B.1
Stratton, R.F.2
Greenberg, F.3
-
3
-
-
77958534767
-
Developmental differences of the major forebrain commissures in lissencephalies
-
Oct
-
Kara S, Jissendi-Tchofo P, Barkovich AJ: Developmental differences of the major forebrain commissures in lissencephalies. AJNR Am J Neuroradiol 2010 Oct;31(9):1602-7.
-
(2010)
AJNR Am J Neuroradiol
, vol.31
, Issue.9
, pp. 1602-1607
-
-
Kara, S.1
Jissendi-Tchofo, P.2
Barkovich, A.J.3
-
4
-
-
57749100373
-
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
-
Clement E, Mercuri E, Godfrey C, et al.: Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008;64: 573-82.
-
(2008)
Ann Neurol
, vol.64
, pp. 573-582
-
-
Clement, E.1
Mercuri, E.2
Godfrey, C.3
-
5
-
-
0020326426
-
Neocortical histogenesis in normal and reeler mice: A developmental study based upon [3H]thymidine autoradiography
-
Caviness VS, Jr.: Neocortical histogenesis in normal and reeler mice: a developmental study based upon [3H]thymidine autoradiography. Brain Res 1982;256: 293-302.
-
(1982)
Brain Res
, vol.256
, pp. 293-302
-
-
Caviness Jr., V.S.1
-
6
-
-
0032529699
-
Cyclin-dependent kinase 5-deficient mice demonstrate novel developmental arrest in cerebral cortex
-
Gilmore EC, Ohshima T, Goffinet AM, et al.: Cyclin-dependent kinase 5-deficient mice demonstrate novel developmental arrest in cerebral cortex. J Neurosci 1998;18: 6370-7. (Pubitemid 28373242)
-
(1998)
Journal of Neuroscience
, vol.18
, Issue.16
, pp. 6370-6377
-
-
Gilmore, E.C.1
Ohshima, T.2
Goffinet, A.M.3
Kulkarni, A.B.4
Herrup, K.5
-
7
-
-
0034520636
-
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein
-
DOI 10.1016/S0896-6273(00)00147-1
-
Niethammer M, Smith DS, Ayala R, et al.: NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Neuron 2000;28: 697-711. (Pubitemid 32038065)
-
(2000)
Neuron
, vol.28
, Issue.3
, pp. 697-711
-
-
Niethammer, M.1
Smith, D.S.2
Ayala, R.3
Peng, J.4
Ko, J.5
Lee, M.-S.6
Morabito, M.7
Tsai, L.-H.8
-
8
-
-
1642452714
-
Cdk5 Phosphorylation of Doublecortin Ser297 Regulates Its Effect on Neuronal Migration
-
DOI 10.1016/S0896-6273(03)00852-3
-
Tanaka T, Serneo FF, Tseng HC, et al.: Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron 2004;41: 215-27. (Pubitemid 38125183)
-
(2004)
Neuron
, vol.41
, Issue.2
, pp. 215-227
-
-
Tanaka, T.1
Serneo, F.F.2
Tseng, H.-C.3
Kulkarni, A.B.4
Tsai, L.-H.5
Gleeson, J.G.6
-
9
-
-
1642458489
-
Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases
-
DOI 10.1038/nn1172
-
Noctor SC, Martinez-Cerdeno V, Ivic L, Kriegstein AR: Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases. Nat Neurosci 2004;7: 136-44. (Pubitemid 38129789)
-
(2004)
Nature Neuroscience
, vol.7
, Issue.2
, pp. 136-144
-
-
Noctor, S.C.1
Martinez-Cerdeno, V.2
Ivic, L.3
Kriegstein, A.R.4
-
10
-
-
29544450409
-
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth
-
DOI 10.1016/j.neuron.2005.10.038, PII S0896627305009621
-
Deuel TA, Liu JS, Corbo JC, et al.: Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron 2006;49: 41-53. (Pubitemid 43017184)
-
(2006)
Neuron
, vol.49
, Issue.1
, pp. 41-53
-
-
Deuel, T.A.S.1
Liu, J.S.2
Corbo, J.C.3
Yoo, S.-Y.4
Rorke-Adams, L.B.5
Walsh, C.A.6
-
11
-
-
67349176352
-
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
-
Jun; This article discusses a tubulin mutation that causes polymicrogyria
-
Jaglin XH, Poirier K, Saillour Y, et al.: Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009, Jun;41(6):746-52. This article discusses a tubulin mutation that causes polymicrogyria.
-
(2009)
Nat Genet
, vol.41
, Issue.6
, pp. 746-752
-
-
Jaglin, X.H.1
Poirier, K.2
Saillour, Y.3
-
12
-
-
33846037932
-
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
-
This is the first description of a tubulin mutation as a causative gene for lissencephaly
-
Keays DA, Tian G, Poirier K, et al.: Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007;128: 45-57. This is the first description of a tubulin mutation as a causative gene for lissencephaly.
-
(2007)
Cell
, vol.128
, pp. 45-57
-
-
Keays, D.A.1
Tian, G.2
Poirier, K.3
-
13
-
-
69749085929
-
Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures
-
Tint I, Jean D, Baas PW, Black MM: Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures. J Neurosci 2009;29: 10995-1010.
-
(2009)
J Neurosci
, vol.29
, pp. 10995-11010
-
-
Tint, I.1
Jean, D.2
Baas, P.W.3
Black, M.M.4
-
14
-
-
33749348508
-
Distinct roles of doublecortin modulating the microtubule cytoskeleton
-
DOI 10.1038/sj.emboj.7601335, PII 7601335
-
Moores CA, Perderiset M, Kappeler C, et al.: Distinct roles of doublecortin modulating the microtubule cytoskeleton. EMBO J 2006;25: 4448-57. (Pubitemid 44498119)
-
(2006)
EMBO Journal
, vol.25
, Issue.19
, pp. 4448-4457
-
-
Moores, C.A.1
Perderiset, M.2
Kappeler, C.3
Kain, S.4
Drummond, D.5
Perkins, S.J.6
Chelly, J.7
Cross, R.8
Houdusse, A.9
Francis, F.10
-
15
-
-
2942657327
-
Mechanism of microtubule stabilization by doublecortin
-
Moores CA, Perderiset M, Francis F, et al.: Mechanism of microtubule stabilization by doublecortin.Mol Cell 2004;14: 833-9.
-
(2004)
Mol Cell
, vol.14
, pp. 833-839
-
-
Moores, C.A.1
Perderiset, M.2
Francis, F.3
-
16
-
-
33847688915
-
Loss of alpha-tubulin polyglutamylation in ROSA22 mice is associated with abnormal targeting of KIF1A and modulated synaptic function
-
This study describes the effect of post-translational modifications on transport functions
-
Ikegami K, Heier RL, Taruishi M, et al.: Loss of alpha-tubulin polyglutamylation in ROSA22 mice is associated with abnormal targeting of KIF1A and modulated synaptic function. Proc Natl Acad Sci U S A 2007;104: 3213-8. This study describes the effect of post-translational modifications on transport functions.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 3213-3218
-
-
Ikegami, K.1
Heier, R.L.2
Taruishi, M.3
-
17
-
-
67349200776
-
Tubulin tyrosination navigates the kinesin-1 motor domain to axons
-
This study describes the effect of post-translational modifications on transport functions
-
Konishi Y, Setou M: Tubulin tyrosination navigates the kinesin-1 motor domain to axons. Nat Neurosci 2009;12: 559-67. This study describes the effect of post-translational modifications on transport functions.
-
(2009)
Nat Neurosci
, vol.12
, pp. 559-567
-
-
Konishi, Y.1
Setou, M.2
-
18
-
-
33847748152
-
Neuronal polarity and the kinesin superfamily proteins
-
Nakata T, Hirokawa N: Neuronal polarity and the kinesin superfamily proteins. Sci STKE 2007;2007: pe6
-
(2007)
Sci STKE
, vol.2007
-
-
Nakata, T.1
Hirokawa, N.2
-
19
-
-
77951701022
-
LIS1 and NudE induce a persistent dynein force-producing state
-
Apr 16; This study describes the molecular role of LIS1, the first causative gene identified for lissencephaly
-
McKenney RJ, Vershinin M, Kunwar A, et al.: LIS1 and NudE induce a persistent dynein force-producing state. Cell. 2010 Apr 16; 141(2): 304-14. This study describes the molecular role of LIS1, the first causative gene identified for lissencephaly.
-
(2010)
Cell
, vol.141
, Issue.2
, pp. 304-314
-
-
McKenney, R.J.1
Vershinin, M.2
Kunwar, A.3
-
20
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta- subunit-like repeats
-
DOI 10.1038/364717a0
-
Reiner O, Carrozzo R, Shen Y, et al.: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364: 717-21. (Pubitemid 23273124)
-
(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
Caskey, C.T.7
Ledbetter, D.H.8
-
21
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
DOI 10.1093/hmg/6.2.157
-
Lo Nigro C, Chong CS, Smith AC, et al.: Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 1997;6: 157-64. (Pubitemid 27078071)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.2
, pp. 157-164
-
-
Lo, N.C.1
Chong, S.S.2
Smith, A.C.M.3
Dobyns, W.B.4
Carrozzo, R.5
Ledbetter, D.H.6
-
22
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
DOI 10.1093/hmg/6.2.147
-
Chong SS, Pack SD, Roschke AV, et al.: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997;6: 147-55. (Pubitemid 27078070)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.2
, pp. 147-155
-
-
Chong, S.S.1
Pack, S.D.2
Roschke, A.V.3
Tanigami, A.4
Carrozzo, R.5
Smith, A.C.M.6
Dobyns, W.B.7
Ledbetter, D.H.8
-
23
-
-
68549096366
-
LIS1-related isolated lissencephaly: Spectrum of mutations and relationships with malformation severity
-
Saillour Y, Carion N, Quelin C, et al.: LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol 2009;66: 1007-15.
-
(2009)
Arch Neurol
, vol.66
, pp. 1007-1015
-
-
Saillour, Y.1
Carion, N.2
Quelin, C.3
-
24
-
-
7844223263
-
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
-
Pilz DT, Matsumoto N, Minnerath S, et al.: LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998;7: 2029-37. (Pubitemid 28546410)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.13
, pp. 2029-2037
-
-
Pilz, D.T.1
Matsumoto, N.2
Minnerath, S.3
Mills, P.4
Gleeson, J.G.5
Allen, K.M.6
Walsh, C.A.7
Barkovich, A.J.8
Dobyns, W.B.9
Ledbetter, D.H.10
Ross, M.E.11
-
25
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
Gleeson JG, Allen KM, Fox JW, et al.: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92: 63-72.
-
(1998)
Cell
, vol.92
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
-
26
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
-
des Portes V, Pinard JM, Billuart P, et al.: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92: 51-61.
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
Des Portes, V.1
Pinard, J.M.2
Billuart, P.3
-
27
-
-
0032965786
-
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
-
DOI 10.1002/1531-8249(199902)45:2<146::AID-ANA3>3.0.CO;2-N
-
Gleeson JG, Minnerath SR, Fox JW, et al.: Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999;45: 146-53. (Pubitemid 29072359)
-
(1999)
Annals of Neurology
, vol.45
, Issue.2
, pp. 146-153
-
-
Gleeson, J.G.1
Minnerath, S.R.2
Fox, J.W.3
Allen, K.M.4
Luo, R.F.5
Hong, S.E.6
Berg, M.J.7
Kuzniecky, R.8
Reitnauer, P.J.9
Borgatti, R.10
Mira, A.P.11
Guerrini, R.12
Holmes, G.L.13
Rooney, C.M.14
Berkovic, S.15
Scheffer, I.16
Cooper, E.C.17
Ricci, S.18
Cusmai, R.19
Crawford, T.O.20
Leroy, R.21
Andermann, E.22
Wheless, J.W.23
Dobyns, W.B.24
Ross, M.E.25
Walsh, C.A.26
more..
-
28
-
-
0038462285
-
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations
-
DOI 10.1002/ana.10588
-
Guerrini R, Moro F, Andermann E, et al.: Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol 2003;54: 30-7. (Pubitemid 36764979)
-
(2003)
Annals of Neurology
, vol.54
, Issue.1
, pp. 30-37
-
-
Guerrini, R.1
Moro, F.2
Andermann, E.3
Hughes, E.4
D'Agostino, D.5
Carrozzo, R.6
Bernasconi, A.7
Flinter, F.8
Parmeggiani, L.9
Volzone, A.10
Parrini, E.11
Mei, D.12
Jarosz, J.M.13
Morris, R.G.14
Pratt, P.15
Tortorella, G.16
Dubeau, F.17
Andermann, F.18
Dobyns, W.B.19
Das, S.20
more..
-
29
-
-
54049085347
-
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
-
This study expands the phenotype of the new tubulin isoform mutations causing lissencephaly
-
Bahi-Buisson N, Poirier K, Boddaert N,et al.: Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008;45: 647-53. This study expands the phenotype of the new tubulin isoform mutations causing lissencephaly.
-
(2008)
J Med Genet
, vol.45
, pp. 647-653
-
-
Bahi-Buisson, N.1
Poirier, K.2
Boddaert, N.3
-
30
-
-
71849097199
-
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
-
Mutations in another tubulin isoform cause a cortical malformation
-
Abdollahi MR, Morrison E, Sirey T, et al.: Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet 2009;85: 737-44. Mutations in another tubulin isoform cause a cortical malformation.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 737-744
-
-
Abdollahi, M.R.1
Morrison, E.2
Sirey, T.3
-
31
-
-
73349096922
-
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
-
Another mutation in tubulin causes a neurologic disorder
-
Tischfield MA, Baris HN, Wu C, et al.: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010, 140: 74-87. Another mutation in tubulin causes a neurologic disorder.
-
(2010)
Cell
, vol.140
, pp. 74-87
-
-
Tischfield, M.A.1
Baris, H.N.2
Wu, C.3
-
32
-
-
77957908349
-
Mutations in the neuronal {beta}-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
-
The tubulin isoform that causes congenital fibrosis of the extraocular muscles also is a causative gene for lissencephaly
-
Poirier K, Saillour Y, Bahi-Buisson N, et al.: Mutations in the neuronal {beta}-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010, 19: 4462-73. The tubulin isoform that causes congenital fibrosis of the extraocular muscles also is a causative gene for lissencephaly.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4462-4473
-
-
Poirier, K.1
Saillour, Y.2
Bahi-Buisson, N.3
-
33
-
-
77954745047
-
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: New support for the 'multi-tubulin' hypothesis
-
Tischfield MA, Engle EC: Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep 2010, 30: 319-30.
-
(2010)
Biosci Rep
, vol.30
, pp. 319-330
-
-
Tischfield, M.A.1
Engle, E.C.2
-
34
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
Hong SE, Shugart YY, Huang DT, et al.: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26: 93-6.
-
(2000)
Nat Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
-
35
-
-
41949138166
-
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans
-
This is the first report of human mutations in the VLDLR receptor causing lissencephaly and a very strong cerebellar phenotype
-
Ozcelik T, Akarsu N, Uz E, et al.: Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A 2008;105: 4232-6. This is the first report of human mutations in the VLDLR receptor causing lissencephaly and a very strong cerebellar phenotype.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 4232-4236
-
-
Ozcelik, T.1
Akarsu, N.2
Uz, E.3
-
36
-
-
74949091198
-
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
-
Boycott KM, Bonnemann C, Herz J, et al.: Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol 2009;24:1310-5.
-
(2009)
J Child Neurol
, vol.24
, pp. 1310-1315
-
-
Boycott, K.M.1
Bonnemann, C.2
Herz, J.3
-
37
-
-
0036844387
-
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
-
DOI 10.1038/ng1009
-
Kitamura K, Yanazawa M, Sugiyama N, 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 2002;32: 359-69. (Pubitemid 35266109)
-
(2002)
Nature Genetics
, 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
Omichi, K.7
Suzuki, R.8
Kato-Fukui, Y.9
Kamiirisa, K.10
Matsuo, M.11
Kamijo, S.-I.12
Kasahara, M.13
Yoshioka, H.14
Ogata, T.15
Fukuda, T.16
Kondo, I.17
Kato, M.18
Dobyns, W.B.19
Yokoyama, M.20
Morohashi, K.-I.21
more..
-
38
-
-
77955082451
-
ARX spectrum disorders: Making inroads into the molecular pathology
-
Shoubridge C, Fullston T, Gecz J: ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat 2010, 31: 889-900.
-
(2010)
Hum Mutat
, vol.31
, pp. 889-900
-
-
Shoubridge, C.1
Fullston, T.2
Gecz, J.3
-
39
-
-
10744222257
-
Mutations of ARX Are Associated with Striking Pleiotropy and Consistent Genotype-Phenotype Correlation
-
DOI 10.1002/humu.10310
-
Kato M, Das S, Petras K, et al.: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004;23: 147-59. (Pubitemid 38200605)
-
(2004)
Human Mutation
, vol.23
, Issue.2
, pp. 147-159
-
-
Kato, M.1
Das, S.2
Petras, K.3
Kitamura, K.4
Morohashi, K.-I.5
Abuelo, D.N.6
Barr, M.7
Bonneau, D.8
Brady, A.F.9
Carpenter, N.J.10
Cipero, K.L.11
Frisone, F.12
Fukuda, T.13
Guerrini, R.14
Iida, E.15
Itoh, M.16
Lewanda, A.F.17
Nanba, Y.18
Oka, A.19
Proud, V.K.20
Saugier-Veber, P.21
Schelley, S.L.22
Selicorni, A.23
Shaner, R.24
Silengo, M.25
Stewart, F.26
Sugiyama, N.27
Toyama, J.28
Toutain, A.29
Vargas, A.L.30
Yanazawa, M.31
Zackai, E.H.32
Dobyns, W.B.33
more..
-
40
-
-
34547812084
-
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
-
DOI 10.1086/518903
-
Kato M, Saitoh S, Kamei A, et al.: A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81: 361-6. (Pubitemid 47236082)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.2
, pp. 361-366
-
-
Kato, M.1
Saitoh, S.2
Kamei, A.3
Shiraishi, H.4
Ueda, Y.5
Akasaka, M.6
Tohyama, J.7
Akasaka, N.8
Hayasaka, K.9
-
41
-
-
34548065480
-
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
-
DOI 10.1212/01.wnl.0000266594.16202.c1, PII 0000611420070731000004
-
Guerrini R, Moro F, Kato M, et al.: Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007;69: 427-33. (Pubitemid 47450277)
-
(2007)
Neurology
, vol.69
, Issue.5
, pp. 427-433
-
-
Guerrini, R.1
Moro, F.2
Kato, M.3
Barkovich, A.J.4
Shiihara, T.5
McShane, M.A.6
Hurst, J.7
Loi, M.8
Tohyama, J.9
Norci, V.10
Hayasaka, K.11
Kang, U.J.12
Das, S.13
Dobyns, W.B.14
-
42
-
-
67649391197
-
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
-
The animal model of ARX mutations shows defects in interneuron migration
-
Marsh E, Fulp C, Gomez E, et al.: Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain 2009;132:1563-76. The animal model of ARX mutations shows defects in interneuron migration.
-
(2009)
Brain
, vol.132
, pp. 1563-1576
-
-
Marsh, E.1
Fulp, C.2
Gomez, E.3
-
43
-
-
0142091542
-
Opposing actions of Arx and Pax4 in endocrine pancreas development
-
DOI 10.1101/gad.269003
-
Collombat P, Mansouri A, Hecksher-Sorensen J, et al.: Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev 2003;17: 2591-603. (Pubitemid 37271428)
-
(2003)
Genes and Development
, vol.17
, Issue.20
, pp. 2591-2603
-
-
Collombat, P.1
Mansouri, A.2
Hecksher-Sorensen, J.3
Serup, P.4
Krull, J.5
Gradwohl, G.6
Gruss, P.7
-
44
-
-
0035880455
-
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
-
Sheen VL, Dixon PH, Fox JW, et al.: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 2001;10: 1775-83. (Pubitemid 32899095)
-
(2001)
Human Molecular Genetics
, 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
Duncan, J.S.7
Dubeau, F.8
Scheffer, I.E.9
Schachter, S.C.10
Wilner, A.11
Henchy, R.12
Crino, P.13
Kamuro, K.14
DiMario, F.15
Berg, M.16
Kuzniecky, R.17
Cole, A.J.18
Bromfield, E.19
Biber, M.20
Schomer, D.21
Wheless, J.22
Silver, K.23
Mochida, G.H.24
Berkovic, S.F.25
Andermann, F.26
Andermann, E.27
Dobyns, W.B.28
Wood, N.W.29
Walsh, C.A.30
more..
-
45
-
-
19944432730
-
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
-
Sheen VL, Jansen A, Chen MH, et al.: Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 2005;64: 254-62.
-
(2005)
Neurology
, vol.64
, pp. 254-262
-
-
Sheen, V.L.1
Jansen, A.2
Chen, M.H.3
-
46
-
-
33745685474
-
Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin a mutations
-
DOI 10.1093/brain/awl125
-
Parrini E, Ramazzotti A, Dobyns WB, et al.: Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 2006;129: 1892-906. (Pubitemid 43999420)
-
(2006)
Brain
, vol.129
, Issue.7
, pp. 1892-1906
-
-
Parrini, E.1
Ramazzotti, A.2
Dobyns, W.B.3
Mei, D.4
Moro, F.5
Veggiotti, P.6
Marini, C.7
Brilstra, E.H.8
Bernardina, B.D.9
Goodwin, L.10
Bodell, A.11
Jones, M.C.12
Nangeroni, M.13
Palmeri, S.14
Said, E.15
Sander, J.W.16
Striano, P.17
Takahashi, Y.18
Van Maldergem, L.19
Leonardi, G.20
Wright, M.21
Walsh, C.A.22
Guerrini, R.23
more..
-
47
-
-
3242705773
-
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
-
Guerrini R, Mei D, Sisodiya S, et al.: Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology 2004;63: 51-6. (Pubitemid 38943778)
-
(2004)
Neurology
, vol.63
, Issue.1
, pp. 51-56
-
-
Guerrini, R.1
Mei, D.2
Sisodiya, S.3
Sicca, F.4
Harding, B.5
Takahashi, Y.6
Dorn, T.7
Yoshida, A.8
Campistol, J.9
Kramer, G.10
Moro, F.11
Dobyns, W.B.12
Parrini, E.13
-
48
-
-
9144274368
-
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
-
DOI 10.1038/ng1276
-
Sheen VL, Ganesh VS, Topcu M, et al.: Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 2004;36:69-76. (Pubitemid 38056210)
-
(2004)
Nature Genetics
, 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
Grant, P.E.7
Shugart, Y.Y.8
Imitola, J.9
Khoury, S.J.10
Guerrini, R.11
Walsh, C.A.12
-
49
-
-
79953675536
-
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
-
de Wit MC, de Coo IF, Halley DJ, et al.: Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. Neurogenetics 2009;10: 333-6.
-
(2009)
Neurogenetics
, vol.10
, pp. 333-336
-
-
De Wit, M.C.1
De Coo, I.F.2
Halley, D.J.3
-
50
-
-
20044391430
-
Neuronal migration disorders, genetics, and epileptogenesis
-
Guerrini R, Filippi T: Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol 2005, 20:287-299. (Pubitemid 40766985)
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.4
, pp. 287-299
-
-
Guerrini, R.1
Filippi, T.2
|