-
1
-
-
77955069557
-
A novel ARX phenotype: Rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder
-
[Epub ahead of print]
-
Absoud, M., Parr, J. R., Halliday, D., Pretorius, P., Zaiwalla, Z., and Jayawant, S. (2009). A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. Dev. Med. Child. Neurol. [Epub ahead of print].
-
(2009)
Dev. Med. Child. Neurol
-
-
Absoud, M.1
Parr, J.R.2
Halliday, D.3
Pretorius, P.4
Zaiwalla, Z.5
Jayawant, S.6
-
2
-
-
19444364594
-
The other trinucleotide repeat: Polyalanine expansion disorders
-
Albrecht, A., and Mundlos, S. (2005). The other trinucleotide repeat: polyalanine expansion disorders. Curr. Opin. Genet. Dev. 15, 285-293.
-
(2005)
Curr. Opin. Genet. Dev
, vol.15
, pp. 285-293
-
-
Albrecht, A.1
Mundlos, S.2
-
3
-
-
33846040831
-
Trekking across the brain: The journey of neuronal migration
-
Ayala, R., Shu, T., and Tsai, L. H. (2007). Trekking across the brain: the journey of neuronal migration. Cell 128, 29-43.
-
(2007)
Cell
, vol.128
, pp. 29-43
-
-
Ayala, R.1
Shu, T.2
Tsai, L.H.3
-
4
-
-
0037090887
-
ARX, a novel Prdclass- homeobox gene highly expressed in the telencephalon, is mutated in Xlinked mental retardation
-
Bienvenu, T., Poirier, K., Friocourt, G., Bahi, N., Beaumont, D., Fauchereau, F., Ben Jeema, L., Zemni, R., Vinet, M. C., Francis, F., Couvert, P., Gomot, M., Moraine, C., van Bokhoven, H., Kalscheuer, V., Frints, S., Gecz, J., Ohzaki, K., Chaabouni, H., Fryns, J. P., des Portes, V., Beldjord, C., and Chelly, J. (2002). ARX, a novel Prdclass- homeobox gene highly expressed in the telencephalon, is mutated in Xlinked mental retardation. Hum. Mol. Genet. 11, 981-991.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 981-991
-
-
Bienvenu, T.1
Poirier, K.2
Friocourt, G.3
Bahi, N.4
Beaumont, D.5
Fauchereau, F.6
Ben Jeema, L.7
Zemni, R.8
Vinet, M.C.9
Francis, F.10
Couvert, P.11
Gomot, M.12
Moraine, C.13
van Bokhoven, H.14
Kalscheuer, V.15
Frints, S.16
Gecz, J.17
Ohzaki, K.18
Chaabouni, H.19
Fryns, J.P.20
des Portes, V.21
Beldjord, C.22
Chelly, J.23
more..
-
5
-
-
37349063432
-
The homeobox gene Arx is a novel positive regulator of embryonic myogenesis
-
Biressi, S., Messina, G., Collombat, P., Tagliafico, E., Monteverde, S., Benedetti, L., Cusella De Angelis, M. G., Mansouri, A., Ferrari, S., Tajbakhsh, S., Broccoli, V., and Cossu, G. (2008). The homeobox gene Arx is a novel positive regulator of embryonic myogenesis. Cell Death Differ. 15, 94-104.
-
(2008)
Cell Death Differ
, vol.15
, pp. 94-104
-
-
Biressi, S.1
Messina, G.2
Collombat, P.3
Tagliafico, E.4
Monteverde, S.5
Benedetti, L.6
De Angelis, M.G.C.7
Mansouri, A.8
Ferrari, S.9
Tajbakhsh, S.10
Broccoli, V.11
Cossu, G.12
-
6
-
-
0036199532
-
Xlinked lissencephaly with absent corpus callosum and ambigous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings
-
Bonneau, D., Toutain, A., Laquerrière, A., Marret, S., Saugier-Veber, P., Barthez, M. A., Radi, S., Biran-Mucignat, V., Rodriguez, D., and Gélot, A. (2002). Xlinked lissencephaly with absent corpus callosum and ambigous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann. Neurol. 51, 340-349.
-
(2002)
Ann. Neurol
, vol.51
, pp. 340-349
-
-
Bonneau, D.1
Toutain, A.2
Laquerrière, A.3
Marret, S.4
Saugier-Veber, P.5
Barthez, M.A.6
Radi, S.7
Biran-Mucignat, V.8
Rodriguez, D.9
Gélot, A.10
-
7
-
-
0031694448
-
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
-
Brown, S. A., Warburton, D., Brown, L. Y., Yu, C., Roeder, E. R., Stengel-Rutkowski, S., Hennekam, R. C. M., and Muenke, M. (1998). Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat. Genet. 20, 180-183.
-
(1998)
Nat. Genet
, vol.20
, pp. 180-183
-
-
Brown, S.A.1
Warburton, D.2
Brown, L.Y.3
Yu, C.4
Roeder, E.R.5
Stengel-Rutkowski, S.6
Hennekam, R.C.M.7
Muenke, M.8
-
8
-
-
0035464960
-
Monogenic causes of X-linked mental retardation
-
Chelly, J., and Mandel, J. L. (2001). Monogenic causes of X-linked mental retardation. Nat. Rev. Genet. 2, 669-680.
-
(2001)
Nat. Rev. Genet
, vol.2
, pp. 669-680
-
-
Chelly, J.1
Mandel, J.L.2
-
9
-
-
57849117430
-
Rac1 defi- ciency in the forebrain results in neural progenitor reduction and microcephaly
-
Chen, L., Melendez, J., Campbell, K., Kuan, C. Y., and Zheng, Y. (2009). Rac1 defi- ciency in the forebrain results in neural progenitor reduction and microcephaly. Dev. Biol. 325, 162-170.
-
(2009)
Dev. Biol
, vol.325
, pp. 162-170
-
-
Chen, L.1
Melendez, J.2
Campbell, K.3
Kuan, C.Y.4
Zheng, Y.5
-
10
-
-
13244253699
-
The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain
-
Cobos, I., Broccoli, V., and Rubenstein, J. L. (2005). The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain. J. Comp. Neurol. 483, 292-303.
-
(2005)
J. Comp. Neurol
, vol.483
, pp. 292-303
-
-
Cobos, I.1
Broccoli, V.2
Rubenstein, J.L.3
-
11
-
-
54849441959
-
Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons
-
Colasante, G., Collombat, P., Raimondi, V., Bonanomi, D., Ferrai, C., Maira, M., Yoshikawa, K., Mansouri, A., Valtorta, F., Rubenstein, J. L., and Broccoli, V. (2008). Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. J. Neurosci. 28, 10674-10686.
-
(2008)
J. Neurosci
, vol.28
, pp. 10674-10686
-
-
Colasante, G.1
Collombat, P.2
Raimondi, V.3
Bonanomi, D.4
Ferrai, C.5
Maira, M.6
Yoshikawa, K.7
Mansouri, A.8
Valtorta, F.9
Rubenstein, J.L.10
Broccoli, V.11
-
12
-
-
69949134504
-
Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity
-
Colasante, G., Sessa, A., Crispi, S., Calogero, R., Mansouri, A., Collombat, P., and Broccoli, V. (2009). Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev. Biol. 334, 59-71.
-
(2009)
Dev. Biol
, vol.334
, pp. 59-71
-
-
Colasante, G.1
Sessa, A.2
Crispi, S.3
Calogero, R.4
Mansouri, A.5
Collombat, P.6
Broccoli, V.7
-
13
-
-
0142091542
-
Opposing actions of Arx and Pax4 in endocrine pancreas development
-
Collombat, P., Mansouri, A., Hecksher- Sorensen, J., Serup, P., Krull, J., Gradwohl, G., and Gruss, P. (2003). Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev. 17, 2591-2603.
-
(2003)
Genes Dev
, vol.17
, 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
-
14
-
-
34247474911
-
Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation
-
Colombo, E., Collombat, P., Colasante, G., Bianchi, M., Long, J., Mansouri, A., Rubenstein, J. L., and Broccoli, V. (2007). Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J. Neurosci. 27, 4786-4798.
-
(2007)
J. Neurosci
, vol.27
, pp. 4786-4798
-
-
Colombo, E.1
Collombat, P.2
Colasante, G.3
Bianchi, M.4
Long, J.5
Mansouri, A.6
Rubenstein, J.L.7
Broccoli, V.8
-
15
-
-
6944226376
-
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
-
Colombo, E., Galli, R., Cossu, G., Gécz, J., and Broccoli, V. (2004). Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev. Dyn. 231, 631-639.
-
(2004)
Dev. Dyn
, vol.231
, pp. 631-639
-
-
Colombo, E.1
Galli, R.2
Cossu, G.3
Gécz, J.4
Broccoli, V.5
-
16
-
-
67649870497
-
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
-
Demos, M. K., Fullston, T., Partington, M. W., Gécz, J., and Gibson, W. T. (2009). Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. Am. J. Med. Genet. A 149A, 1482-1486.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 1482-1486
-
-
Demos, M.K.1
Fullston, T.2
Partington, M.W.3
Gécz, J.4
Gibson, W.T.5
-
17
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in Xlinked subcortical laminar heterotopia and lissencephaly syndrome
-
des Portes, V., Pinard, J. M., Billuart, P., Vinet, M. C., Koulakoff, A., Carrie, A., Gelot, A., Dupuis, E., Motte, J., Berwald-Netter, Y., Catala, M., Kahn, A., Beldjord, C., and Chelly, J. (1998). A novel CNS gene required for neuronal migration and involved in Xlinked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92, 51-61.
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
des Portes, V.1
Pinard, J.M.2
Billuart, P.3
Vinet, M.C.4
Koulakoff, A.5
Carrie, A.6
Gelot, A.7
Dupuis, E.8
Motte, J.9
Berwald-Netter, Y.10
Catala, M.11
Kahn, A.12
Beldjord, C.13
Chelly, J.14
-
18
-
-
0032822119
-
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
-
Dobyns, W. B., Berry-Kravis, E., Havernick, N. J., Holden, K. R., and Viskochil, D. (1999). X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am. J. Med. Genet. 86, 331-337.
-
(1999)
Am. J. Med. Genet
, vol.86
, pp. 331-337
-
-
Dobyns, W.B.1
Berry-Kravis, E.2
Havernick, N.J.3
Holden, K.R.4
Viskochil, D.5
-
19
-
-
0034782066
-
What is West syndrome?
-
Dulac, O. (2001). What is West syndrome? Brain Dev. 23, 447-452.
-
(2001)
Brain Dev
, vol.23
, pp. 447-452
-
-
Dulac, O.1
-
20
-
-
26444434815
-
Genotypically defined lissencephalies show distinct pathologies
-
Forman, M. S., Squier, W., Dobyns, W. B., and Golden, J. A. (2005). Genotypically defined lissencephalies show distinct pathologies. J. Neuropathol. Exp. Neurol. 64, 847-857.
-
(2005)
J. Neuropathol. Exp. Neurol
, vol.64
, pp. 847-857
-
-
Forman, M.S.1
Squier, W.2
Dobyns, W.B.3
Golden, J.A.4
-
21
-
-
33644755463
-
Human disorders of cortical development: From past to present
-
Francis, F., Meyer, G., Fallet-Bianco, C., Moreno, S., Kappeler, C., Socorro, A. C., Tuy, F. P., Beldjord, C., and Chelly, J. (2006). Human disorders of cortical development: from past to present. Eur. J. Neurosci. 23, 877-893.
-
(2006)
Eur. J. Neurosci
, vol.23
, pp. 877-893
-
-
Francis, F.1
Meyer, G.2
Fallet-Bianco, C.3
Moreno, S.4
Kappeler, C.5
Socorro, A.C.6
Tuy, F.P.7
Beldjord, C.8
Chelly, J.9
-
22
-
-
0036838082
-
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome
-
Frints, S. G., Froyen, G., Marynen, P., Willekens, D., Legius, E., and Fryns, J. P. (2002). Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am. J. Med. Genet. 112, 427-428.
-
(2002)
Am. J. Med. Genet
, vol.112
, pp. 427-428
-
-
Frints, S.G.1
Froyen, G.2
Marynen, P.3
Willekens, D.4
Legius, E.5
Fryns, J.P.6
-
23
-
-
45949106524
-
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis
-
Friocourt, G., Kanatani, S., Tabata, H., Yozu, M., Takahashi, T., Antypa, M., Raguénès, O., Chelly, J., Férec, C., Nakajima, K., and Parnavelas, J. G. (2008). Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J. Neurosci. 28, 5794-5805.
-
(2008)
J. Neurosci
, vol.28
, pp. 5794-5805
-
-
Friocourt, G.1
Kanatani, S.2
Tabata, H.3
Yozu, M.4
Takahashi, T.5
Antypa, M.6
Raguénès, O.7
Chelly, J.8
Férec, C.9
Nakajima, K.10
Parnavelas, J.G.11
-
24
-
-
34147109177
-
Both doublecortin and doublecortin- like kinase play a role in cortical interneuron migration
-
Friocourt, G., Liu, J. S., Antypa, M., Rakic, S., Walsh, C. A., and Parnavelas, J. G. (2007). Both doublecortin and doublecortin- like kinase play a role in cortical interneuron migration. J. Neurosci. 27, 3875-3883.
-
(2007)
J. Neurosci
, vol.27
, pp. 3875-3883
-
-
Friocourt, G.1
Liu, J.S.2
Antypa, M.3
Rakic, S.4
Walsh, C.A.5
Parnavelas, J.G.6
-
25
-
-
33644786915
-
The role of ARX in cortical development
-
Friocourt, G., Poirier, K., Rakić, S., Parnavelas, J. G., and Chelly, J. (2006). The role of ARX in cortical development. Eur. J. Neurosci. 23, 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
-
26
-
-
54849430923
-
The function of the Aristalessrelated homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with Xlinked mental retardation (XLMR)
-
Fullenkamp, A. N., and El-Hodiri, H. M. (2008). The function of the Aristalessrelated homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with Xlinked mental retardation (XLMR). Biochem. Biophys. Res. Commun. 377, 73-78.
-
(2008)
Biochem. Biophys. Res. Commun
, vol.377
, pp. 73-78
-
-
Fullenkamp, A.N.1
El-Hodiri, H.M.2
-
27
-
-
74449092772
-
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C > G/p.Y27X)
-
Fullston, T., Brueton, L., Willis, T., Philip, S., MacPherson, L., Finnis, M., Gecz, J., and Morton, J. (2010). Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C > G/p.Y27X). Eur. J. Hum. Genet. 18, 157-162.
-
(2010)
Eur. J. Hum. Genet
, vol.18
, pp. 157-162
-
-
Fullston, T.1
Brueton, L.2
Willis, T.3
Philip, S.4
Macpherson, L.5
Finnis, M.6
Gecz, J.7
Morton, J.8
-
28
-
-
56049110230
-
Identification of Arx transcriptional targets in the developing basal forebrain
-
Fulp, C. T., Cho, G., Marsh, E. D., Nasrallah, I. M., Labosky, P. A., and Golden, J. A. (2008). Identification of Arx transcriptional targets in the developing basal forebrain. Hum. Mol. Genet. 17, 3740-3760.
-
(2008)
Hum. Mol. Genet
, vol.17
, pp. 3740-3760
-
-
Fulp, C.T.1
Cho, G.2
Marsh, E.D.3
Nasrallah, I.M.4
Labosky, P.A.5
Golden, J.A.6
-
29
-
-
0033621539
-
Origin of anterior patterning. How old is our head?
-
Galliot, B., and Miller, D. (2000). Origin of anterior patterning. How old is our head? Trends Genet. 16, 1-5.
-
(2000)
Trends Genet
, vol.16
, pp. 1-5
-
-
Galliot, B.1
Miller, D.2
-
30
-
-
0347519182
-
Ebf gene function is required for coupling neuronal differentiation and cell cycle exit
-
Garcia-Dominguez, M., Poquet, C., Garel, S., and Charnay, P. (2003). Ebf gene function is required for coupling neuronal differentiation and cell cycle exit. Development 130, 6013-6025.
-
(2003)
Development
, vol.130
, pp. 6013-6025
-
-
Garcia-Dominguez, M.1
Poquet, C.2
Garel, S.3
Charnay, P.4
-
31
-
-
33646508354
-
ARX: A gene for all seasons
-
Gécz, J., Cloosterman, D., and Partington, M. (2006). ARX: a gene for all seasons. Curr. Opin. Genet. Dev. 16, 308-316.
-
(2006)
Curr. Opin. Genet. Dev
, vol.16
, pp. 308-316
-
-
Gécz, J.1
Cloosterman, D.2
Partington, M.3
-
32
-
-
67649921127
-
The genetic landscape of intellectual disability arising from chromosome X
-
Gécz, J., Shoubridge, C., and Corbett, M. (2009). The genetic landscape of intellectual disability arising from chromosome X. Trends Genet. 25, 308-316.
-
(2009)
Trends Genet
, vol.25
, pp. 308-316
-
-
Gécz, J.1
Shoubridge, C.2
Corbett, M.3
-
33
-
-
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., Cooper, E. C., Dobyns, W. B., Minnerath, S. R., Ross, M. E., and Walsh, C. A. (1998). Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92, 63-72.
-
(1998)
Cell
, vol.92
, 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
Cooper, E.C.7
Dobyns, W.B.8
Minnerath, S.R.9
Ross, M.E.10
Walsh, C.A.11
-
34
-
-
34548065480
-
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
-
Guerrini, R., Moro, F., Kato, M., Barkovich, A. J., Shiihara, T., McShane, M. A., Hurst, J., Loi, M., Tohyama, J., Norci, V., Hayasaka, K., Kang, U. J., Das, S., and Dobyns, W. B. (2007). Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 69, 427-433.
-
(2007)
Neurology
, vol.69
, 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
-
35
-
-
68049108924
-
Neuronal migration disorders
-
[Epub ahead of print]
-
Guerrini R., and Parrini E. (2009). Neuronal migration disorders. Neurobiol. Dis. [Epub ahead of print].
-
(2009)
Neurobiol. Dis
-
-
Guerrini, R.1
Parrini, E.2
-
36
-
-
3242712257
-
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene
-
Hartmann, H., Uyanik, G., Gross, C., Hehr, U., Lücke, T., Arslan-Kirchner, M., Antosch, B., Das, A. M., and Winkler, J. (2004). Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Neuropediatrics 35, 157-160.
-
(2004)
Neuropediatrics
, vol.35
, pp. 157-160
-
-
Hartmann, H.1
Uyanik, G.2
Gross, C.3
Hehr, U.4
Lücke, T.5
Arslan-Kirchner, M.6
Antosch, B.7
Das, A.M.8
Winkler, J.9
-
37
-
-
34547624307
-
Neurotransmitters regulate cell migration in the telencephalon
-
Heng, J. I., Moonen, G., and Nguyen, L. (2007). Neurotransmitters regulate cell migration in the telencephalon. Eur. J. Neurosci. 26, 537-546.
-
(2007)
Eur. J. Neurosci
, vol.26
, pp. 537-546
-
-
Heng, J.I.1
Moonen, G.2
Nguyen, L.3
-
38
-
-
51349143015
-
Neurogenin 2 controls cortical neuron migration through regulation of Rnd2
-
Heng, J. I., Nguyen, L., Castro, D. S., Zimmer, C., Wildner, H., Armant, O., Skowronska-Krawczyk, D., Bedogni, F., Matter, J. M., Hevner, R., and Guillemot, F. (2008). Neurogenin 2 controls cortical neuron migration through regulation of Rnd2. Nature 455, 114-118.
-
(2008)
Nature
, vol.455
, pp. 114-118
-
-
Heng, J.I.1
Nguyen, L.2
Castro, D.S.3
Zimmer, C.4
Wildner, H.5
Armant, O.6
Skowronska-Krawczyk, D.7
Bedogni, F.8
Matter, J.M.9
Hevner, R.10
Guillemot, F.11
-
39
-
-
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., Martin, N. D., and Walsh, C. A. (2000). Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat. Genet. 26, 93-96.
-
(2000)
Nat. Genet
, vol.26
, 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
Martin, N.D.7
Walsh, C.A.8
-
40
-
-
33646164186
-
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice
-
Kappeler, C., Saillour, Y., Baudoin, J. P., Tuy, F. P., Alvarez, C., Houbron, C., Gaspar, P., Hamard, G., Chelly, J., Métin, C., and Francis, F. (2006). Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice. Hum. Mol. Genet. 15, 1387-1400.
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1387-1400
-
-
Kappeler, C.1
Saillour, Y.2
Baudoin, J.P.3
Tuy, F.P.4
Alvarez, C.5
Houbron, C.6
Gaspar, P.7
Hamard, G.8
Chelly, J.9
Métin, C.10
Francis, F.11
-
41
-
-
10744222257
-
Mutations of ARX are associated with striking pleiotropy and consistent genotypephenotype correlation
-
Kato, M., Das, S., Petras, K., Kitamura, K., Morohashi, K., Abuelo, D. N., Barr, M., Bonneau, D., Brady, A. F., Carpenter, N. J., Cipero, K. L., Frisone, F., Fukuda, T., Guerrini, R., Iida, E., Itoh, M., Feldman Lewanda, A., Nanba, Y., Oka, A., Proud, V. K., Saugier-Veber, P., Schelley, S. L., Selicorni, A., Shaner, R., Silengo, M., Stewart, F., Sugiyama, N., Toyama, J., Toutain, A., Lia Vargas, A., Yanazawa, M., Zackai, E. H., and Dobyns, W. B. (2004). Mutations of ARX are associated with striking pleiotropy and consistent genotypephenotype correlation. Hum. Mutat. 23, 147-159.
-
(2004)
Hum. Mutat
, vol.23
, pp. 147-159
-
-
Kato, M.1
Das, S.2
Petras, K.3
Kitamura, K.4
Morohashi, K.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
Feldman Lewanda, A.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
Lia Vargas, A.30
Yanazawa, M.31
Zackai, E.H.32
Dobyns, W.B.33
more..
-
42
-
-
0038458487
-
Polyalanine expansion of ARX associated with cryptogenic West syndrome
-
Kato, M., Das, S., Petras, K., Sawaishi, Y., and Dobyns, WB. (2003). Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 61, 267-276.
-
(2003)
Neurology
, vol.61
, pp. 267-276
-
-
Kato, M.1
Das, S.2
Petras, K.3
Sawaishi, Y.4
Dobyns, W.B.5
-
43
-
-
20044365419
-
Xlinked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term,interneuronopathy
-
Kato, M., and Dobyns, W. B. (2005). Xlinked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J. Child Neurol. 20, 392-397.
-
(2005)
J. Child Neurol
, vol.20
, pp. 392-397
-
-
Kato, M.1
Dobyns, W.B.2
-
44
-
-
34547812084
-
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
-
Kato, M., Saitoh, S., Kamei, A., Shiraishi, H., Ueda, Y., Akasaka, M., Tohyama, J., Akasaka, N., and Hayasaka, K. (2007). A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am. J. Hum. Genet. 81, 361-366.
-
(2007)
Am. J. Hum. Genet
, vol.81
, 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
-
45
-
-
30344457896
-
Cdk5 phosphorylates and stabilizes p27kip1 contributing to actin organization and cortical neuronal migration
-
Kawauchi, T., Chihama, K., Nabeshima, Y., and Hoshino, M. (2006). Cdk5 phosphorylates and stabilizes p27kip1 contributing to actin organization and cortical neuronal migration. Nat. Cell Biol. 8, 17-26.
-
(2006)
Nat. Cell Biol
, vol.8
, pp. 17-26
-
-
Kawauchi, T.1
Chihama, K.2
Nabeshima, Y.3
Hoshino, M.4
-
46
-
-
33846037932
-
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
-
Keays, D. A., Tian, G., Poirier, K., Huang, G. J., Siebold, C., Cleak, J., Oliver, P. L., Fray, M., Harvey, R. J., Molnár, Z., Piñon, M. C., Dear, N., Valdar, W., Brown, S. D., Davies, K. E., Rawlins, J. N., Cowan, N. J., Nolan, P., Chelly, J., and Flint, J. (2007). Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 128, 45-57.
-
(2007)
Cell
, vol.128
, pp. 45-57
-
-
Keays, D.A.1
Tian, G.2
Poirier, K.3
Huang, G.J.4
Siebold, C.5
Cleak, J.6
Oliver, P.L.7
Fray, M.8
Harvey, R.J.9
Molnár, Z.10
Piñon, M.C.11
Dear, N.12
Valdar, W.13
Brown, S.D.14
Davies, K.E.15
Rawlins, J.N.16
Cowan, N.J.17
Nolan, P.18
Chelly, J.19
Flint, J.20
more..
-
47
-
-
70350755706
-
Three human ARX mutations cause the lissencephaly- like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
-
Kitamura, K., Itou, Y., Yanazawa, M., Ohsawa, M., Suzuki-Migishima, R., Umeki, Y., Hohjoh, H., Yanagawa, Y., Shinba, T., Itoh, M., Nakamura, K., and Goto, Y. (2009). Three human ARX mutations cause the lissencephaly- like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum. Mol. Genet. 18, 3708-3724.
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 3708-3724
-
-
Kitamura, K.1
Itou, Y.2
Yanazawa, M.3
Ohsawa, M.4
Suzuki-Migishima, R.5
Umeki, Y.6
Hohjoh, H.7
Yanagawa, Y.8
Shinba, T.9
Itoh, M.10
Nakamura, K.11
Goto, Y.12
-
48
-
-
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., Omichi, K., Suzuki, R., Kato-Fukui, Y., Kamiirisa, K., Matsuo, M., Kamijo, S. I., Kasahara, M., Yoshioka, H., Ogata, T., Fukuda, T., Kondo, I., Kato, M., Dobyns, W. B., Yokoyama, M., and Morohashi, K. I. (2002). Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat. Genet. 32, 359-369.
-
(2002)
Nat. Genet
, vol.32
, 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..
-
49
-
-
3042638932
-
Patterns of neuronal migration in the embryonic cortex
-
Kriegstein, A. R., and Noctor, S. C. (2004). Patterns of neuronal migration in the embryonic cortex. Trends Neurosci. 27, 392-399.
-
(2004)
Trends Neurosci
, vol.27
, pp. 392-399
-
-
Kriegstein, A.R.1
Noctor, S.C.2
-
50
-
-
34248548640
-
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
-
Laperuta, C., Spizzichino, L., D'Adamo, P., Monfregola, J., Maiorino, A., D'Eustacchio, A., Ventruto, V., Neri, G., D'Urso, M., Chiurazzi, P., Ursini, M. V., and Miano, M. G. (2007). MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. BMC Med. Genet. 8, 25.
-
(2007)
BMC Med. Genet
, vol.8
, pp. 25
-
-
Laperuta, C.1
Spizzichino, L.2
D'Adamo, P.3
Monfregola, J.4
Maiorino, A.5
D'eustacchio, A.6
Ventruto, V.7
Neri, G.8
D'urso, M.9
Chiurazzi, P.10
Ursini, M.V.11
Miano, M.G.12
-
51
-
-
33646072685
-
Tangential neuronal migration controls axon guidance: A role for neuregulin-1 in thalamocortical axon navigation
-
López-Bendito, G., Cautinat, A., Sánchez, J. A., Bielle, F., Flames, N., Garratt, A. N., Talmage, D. A., Role, L. W., Charnay, P., Marín, O., and Garel, S. (2006). Tangential neuronal migration controls axon guidance: a role for neuregulin-1 in thalamocortical axon navigation. Cell 125, 127-142.
-
(2006)
Cell
, vol.125
, pp. 127-142
-
-
López-Bendito, G.1
Cautinat, A.2
Sánchez, J.A.3
Bielle, F.4
Flames, N.5
Garratt, A.N.6
Talmage, D.A.7
Role, L.W.8
Charnay, P.9
Marín, O.10
Garel, S.11
-
52
-
-
33746315388
-
The multipolar stage and disruptions in neuronal migration
-
LoTurco, J. J., and Bai, J. (2006). The multipolar stage and disruptions in neuronal migration. Trends Neurosci. 29, 407-413.
-
(2006)
Trends Neurosci
, vol.29
, pp. 407-413
-
-
Loturco, J.J.1
Bai, J.2
-
54
-
-
67649391197
-
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
-
Marsh, E., Fulp, C., Gomez, E., Nasrallah, I., Minarcik, J., Sudi, J., Christian, S. L., Mancini, G., Labosky, P., Dobyns, W., Brooks-Kayal, A., and Golden, J. A. (2009). Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain 132, 1563-1576.
-
(2009)
Brain
, vol.132
, pp. 1563-1576
-
-
Marsh, E.1
Fulp, C.2
Gomez, E.3
Nasrallah, I.4
Minarcik, J.5
Sudi, J.6
Christian, S.L.7
Mancini, G.8
Labosky, P.9
Dobyns, W.10
Brooks-Kayal, A.11
Golden, J.A.12
-
55
-
-
34247466477
-
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
-
McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., Stifani, S., Gécz, J., and Broccoli V. (2007). Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience 146, 236-247.
-
(2007)
Neuroscience
, vol.146
, pp. 236-247
-
-
McKenzie, O.1
Ponte, I.2
Mangelsdorf, M.3
Finnis, M.4
Colasante, G.5
Shoubridge, C.6
Stifani, S.7
Gécz, J.8
Broccoli, V.9
-
56
-
-
4344607779
-
Lis1 is necessary for normal non-radial migration of inhibitory interneurons
-
McManus, M. F., Nasrallah, I. M., Pancoast, M. M., Wynshaw-Boris, A., and Golden, J. A. (2004). Lis1 is necessary for normal non-radial migration of inhibitory interneurons. Am. J. Pathol. 165, 775-784.
-
(2004)
Am. J. Pathol
, vol.165
, pp. 775-784
-
-
McManus, M.F.1
Nasrallah, I.M.2
Pancoast, M.M.3
Wynshaw-Boris, A.4
Golden, J.A.5
-
57
-
-
0033370681
-
Vertebrate aristaless-related genes
-
Meijlink, F., Beverdam, A., Brouwer, A., Oosterveen, T. C., and Berge, D. T. (1999). Vertebrate aristaless-related genes. Int. J. Dev. Biol. 43, 651-663.
-
(1999)
Int. J. Dev. Biol
, vol.43
, pp. 651-663
-
-
Meijlink, F.1
Beverdam, A.2
Brouwer, A.3
Oosterveen, T.C.4
Berge, D.T.5
-
58
-
-
33644751622
-
Cell and molecular mechanisms involved in the migration of cortical interneurons
-
Métin, C., Baudoin, J. P., Rakic, S. and Parnavelas, J. G. (2006). Cell and molecular mechanisms involved in the migration of cortical interneurons. Eur. J. Neurosci. 23, 894-900.
-
(2006)
Eur. J. Neurosci
, vol.23
, pp. 894-900
-
-
Métin, C.1
Baudoin, J.P.2
Rakic, S.3
Parnavelas, J.G.4
-
59
-
-
0031194810
-
Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
-
Miura, H., Yanazawa, M., Kato, K., and Kitamura, K. (1997). Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech. Dev. 65, 99-109.
-
(1997)
Mech. Dev
, vol.65
, pp. 99-109
-
-
Miura, H.1
Yanazawa, M.2
Kato, K.3
Kitamura, K.4
-
60
-
-
0036594138
-
Modes of neuronal migration in the developing cerebral cortex
-
Nadarajah, B., and Parnavelas, J. G. (2002). Modes of neuronal migration in the developing cerebral cortex. Nat. Rev. Neurosci. 3, 423-432.
-
(2002)
Nat. Rev. Neurosci
, vol.3
, pp. 423-432
-
-
Nadarajah, B.1
Parnavelas, J.G.2
-
61
-
-
7444271413
-
Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration
-
Nagano, T., Morikubo, S., and Sato, M. (2004). Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration. J. Neurosci. 24, 9648-9657.
-
(2004)
J. Neurosci
, vol.24
, pp. 9648-9657
-
-
Nagano, T.1
Morikubo, S.2
Sato, M.3
-
62
-
-
8444221584
-
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
-
Nasrallah, I. M., Minarcik, J. C., and Golden, J. A. (2004). A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J. Cell Biol. 167, 411-416.
-
(2004)
J. Cell Biol
, vol.167
, pp. 411-416
-
-
Nasrallah, I.M.1
Minarcik, J.C.2
Golden, J.A.3
-
63
-
-
0033840452
-
X-linked lissencephaly with ambiguous genitalia: Delineation of further case
-
Ogata, T., Matsuo, N., Hiraoka, N., and Hata, J. I. (2000). X-linked lissencephaly with ambiguous genitalia: delineation of further case. Am. J. Med. Genet. 94, 174-176.
-
(2000)
Am. J. Med. Genet
, vol.94
, pp. 174-176
-
-
Ogata, T.1
Matsuo, N.2
Hiraoka, N.3
Hata, J.I.4
-
64
-
-
51849093485
-
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)
-
Okazaki, S., Ohsawa, M., Kuki, I., Kawawaki, H., Koriyama, T., Ri, S., Ichiba, H., Hai, E., Inoue, T., Nakamura, H., Goto, Y., Tomiwa, K., Yamano, T., Kitamura, K., and Itoh, M. (2008). Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Acta Neuropathol. 116, 453-462.
-
(2008)
Acta Neuropathol
, vol.116
, pp. 453-462
-
-
Okazaki, S.1
Ohsawa, M.2
Kuki, I.3
Kawawaki, H.4
Koriyama, T.5
Ri, S.6
Ichiba, H.7
Hai, E.8
Inoue, T.9
Nakamura, H.10
Goto, Y.11
Tomiwa, K.12
Yamano, T.13
Kitamura, K.14
Itoh, M.15
-
65
-
-
3242704307
-
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX
-
Partington, M. W., Turner, G., Boyle, J., and Gécz, J. (2004). Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin. Genet. 66, 39-45.
-
(2004)
Clin. Genet
, vol.66
, pp. 39-45
-
-
Partington, M.W.1
Turner, G.2
Boyle, J.3
Gécz, J.4
-
66
-
-
28944438404
-
Modulating Hox gene functions during animal body patterning
-
Pearson, J. C., Lemons, D., and McGinnis, W. (2005). Modulating Hox gene functions during animal body patterning. Nat. Rev. Genet. 6, 893-904.
-
(2005)
Nat. Rev. Genet
, vol.6
, pp. 893-904
-
-
Pearson, J.C.1
Lemons, D.2
McGinnis, W.3
-
67
-
-
10744231726
-
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
-
Poirier, K., Van Esch, H., Friocourt, G., Saillour, Y., Bahi, N., Backer, S., Souil, E., Castelnau-Ptakhine, L., Beldjord, C., Francis, F., Bienvenu, T., and Chelly, J. (2004). Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Mol. Brain Res. 122, 35-46.
-
(2004)
Mol. Brain Res
, vol.122
, pp. 35-46
-
-
Poirier, K.1
van Esch, H.2
Friocourt, G.3
Saillour, Y.4
Bahi, N.5
Backer, S.6
Souil, E.7
Castelnau-Ptakhine, L.8
Beldjord, C.9
Francis, F.10
Bienvenu, T.11
Chelly, J.12
-
68
-
-
67650478655
-
A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10 + 7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment
-
Price, M. G., Yoo, J. W., Burgess, D. L., Deng, F., Hrachovy, R. A., Frost, J. D. Jr., and Noebels, J. L. (2009). A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10 + 7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J. Neurosci. 29, 8752-8763.
-
(2009)
J. Neurosci
, vol.29
, pp. 8752-8763
-
-
Price, M.G.1
Yoo, J.W.2
Burgess, D.L.3
Deng, F.4
Hrachovy, R.A.5
Frost Jr., J.D.6
Noebels, J.L.7
-
69
-
-
0025096007
-
Principles of neural cell migration
-
Rakic, P. (1990). Principles of neural cell migration. Experientia 46, 882-891.
-
(1990)
Experientia
, vol.46
, pp. 882-891
-
-
Rakic, P.1
-
70
-
-
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., Caskey, C. T., and Ledbetter, D. H. (1993). Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364, 717-721.
-
(1993)
Nature
, vol.364
, 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
-
71
-
-
68049097103
-
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
-
Reish, O., Fullston, T., Regev, M., Heyman, E., and Gecz, J. (2009). A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. Am. J. Med. Genet. A 149A, 1655-1660.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 1655-1660
-
-
Reish, O.1
Fullston, T.2
Regev, M.3
Heyman, E.4
Gecz, J.5
-
72
-
-
18644384781
-
Trophic actions of GABA on neuronal development
-
Represa, A., and Ben-Ari, Y. (2005). Trophic actions of GABA on neuronal development. Trends Neurosci. 28, 278-283.
-
(2005)
Trends Neurosci
, vol.28
, pp. 278-283
-
-
Represa, A.1
Ben-Ari, Y.2
-
73
-
-
45949103263
-
Accurate balance of the polarity kinase MARK2/ Par-1 is required for proper cortical neuronal migration
-
Sapir, T., Sapoznik, S., Levy, T., Finkelshtein, D., Shmueli, A., Timm, T., Mandelkow, E. M., and Reiner, O. (2008). Accurate balance of the polarity kinase MARK2/ Par-1 is required for proper cortical neuronal migration. J. Neurosci. 28, 5710-5720.
-
(2008)
J. Neurosci
, vol.28
, pp. 5710-5720
-
-
Sapir, T.1
Sapoznik, S.2
Levy, T.3
Finkelshtein, D.4
Shmueli, A.5
Timm, T.6
Mandelkow, E.M.7
Reiner, O.8
-
74
-
-
0037072260
-
X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX
-
Scheffer, I. E., Wallace, R. H., Phillips, F. L., Hewson, P., Reardon, K., Parasivam, G., Stromme, P., Berkovic, S. F., Gecz, J., and Mulley, J. C. (2002). X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 59, 348-356.
-
(2002)
Neurology
, vol.59
, pp. 348-356
-
-
Scheffer, I.E.1
Wallace, R.H.2
Phillips, F.L.3
Hewson, P.4
Reardon, K.5
Parasivam, G.6
Stromme, P.7
Berkovic, S.F.8
Gecz, J.9
Mulley, J.C.10
-
75
-
-
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. (2005). Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development. Dev. Dyn. 232, 313-324.
-
(2005)
Dev. Dyn
, vol.232
, pp. 313-324
-
-
Seufert, D.W.1
Prescott, N.L.2
El-Hodiri, H.M.3
-
76
-
-
0345107244
-
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): One gene leads to many phenotypes
-
Sherr, E. H. (2003). The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr. Opin. Pediatr. 15, 567-571.
-
(2003)
Curr. Opin. Pediatr
, vol.15
, pp. 567-571
-
-
Sherr, E.H.1
-
77
-
-
34250174769
-
Molecular pathology of expanded polyalanine tract mutations in the Aristalessrelated homeobox gene
-
Shoubridge, C., Cloosterman, D., Parkinson-Lawerence, E., Brooks, D., and Gécz, J. (2007). Molecular pathology of expanded polyalanine tract mutations in the Aristalessrelated homeobox gene. Genomics 90, 59-71.
-
(2007)
Genomics
, vol.90
, pp. 59-71
-
-
Shoubridge, C.1
Cloosterman, D.2
Parkinson-Lawerence, E.3
Brooks, D.4
Gécz, J.5
-
78
-
-
0036020705
-
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene
-
Strømme, P., Mangelsdorf, M. E., Scheffer, I. E., and Gecz, J. (2002). Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev. 24, 266-268.
-
(2002)
ARX. Brain Dev
, vol.24
, pp. 266-268
-
-
Strømme, P.1
Mangelsdorf, M.E.2
Scheffer, I.E.3
Gecz, J.4
-
79
-
-
0036337338
-
Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression
-
Stuhmer, T., Anderson, S. A., Ekker, M., and Rubenstein, J. L. (2002). Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression. Development 129, 245-252.
-
(2002)
Development
, vol.129
, pp. 245-252
-
-
Stuhmer, T.1
Anderson, S.A.2
Ekker, M.3
Rubenstein, J.L.4
-
80
-
-
33845713118
-
Genotype-phenotype associations for ARX gene duplication in Xlinked mental retardation
-
Szczaluba, K., Nawara, M., Poirier, K., Pilch, J., Gajdulewicz, M., Spodar, K., Chelly, J., Bal, J., and Mazurczak, T. (2006). Genotype-phenotype associations for ARX gene duplication in Xlinked mental retardation. Neurology 67, 2073-2075.
-
(2006)
Neurology
, vol.67
, pp. 2073-2075
-
-
Szczaluba, K.1
Nawara, M.2
Poirier, K.3
Pilch, J.4
Gajdulewicz, M.5
Spodar, K.6
Chelly, J.7
Bal, J.8
Mazurczak, T.9
-
81
-
-
0242442596
-
Multipolar migration: The third mode of radial neuronal migration in the developing cerebral cortex
-
Tabata, H., and Nakajima, K. (2003). Multipolar migration: the third mode of radial neuronal migration in the developing cerebral cortex. J. Neurosci. 23, 9996-10001.
-
(2003)
J. Neurosci
, vol.23
, pp. 9996-10001
-
-
Tabata, H.1
Nakajima, K.2
-
82
-
-
0036837658
-
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
-
Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., and Gecz, J. (2002). Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am. J. Med. Genet. 112, 405-411.
-
(2002)
Am. J. Med. Genet
, vol.112
, pp. 405-411
-
-
Turner, G.1
Partington, M.2
Kerr, B.3
Mangelsdorf, M.4
Gecz, J.5
-
83
-
-
0037781681
-
ARX mutations in X-linked lissencephaly with abnormal genitalia
-
Uyanik, G., Aigner, L., Martin, P., Gross, C., Neumann, D., Marschner-Schäfer, H., Hehr, U., and Winkler, J. (2003). ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology 61, 232-235.
-
(2003)
Neurology
, vol.61
, pp. 232-235
-
-
Uyanik, G.1
Aigner, L.2
Martin, P.3
Gross, C.4
Neumann, D.5
Marschner-Schäfer, H.6
Hehr, U.7
Winkler, J.8
-
84
-
-
2942719071
-
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
-
Van Esch, H., Poirier, K., de Zegher, F., Holvoet, M., Bienvenu, T., Chelly, J., Devriendt, K., and Fryns, J. P. (2004). ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin. Genet. 65, 503-505.
-
(2004)
Clin. Genet
, vol.65
, pp. 503-505
-
-
van Esch, H.1
Poirier, K.2
de Zegher, F.3
Holvoet, M.4
Bienvenu, T.5
Chelly, J.6
Devriendt, K.7
Fryns, J.P.8
-
85
-
-
44449124178
-
Expansion of the ARX spectrum
-
Wallerstein, R., Sugalski, R., Cohn, L., Jawetz, R., and Friez, M. (2008). Expansion of the ARX spectrum. Clin. Neurol. Neurosurg. 110, 631-634.
-
(2008)
Clin. Neurol. Neurosurg
, vol.110
, pp. 631-634
-
-
Wallerstein, R.1
Sugalski, R.2
Cohn, L.3
Jawetz, R.4
Friez, M.5
-
86
-
-
38949214667
-
Homeobox genes in vertebrate forebrain development and disease
-
Wigle, J. T., and Eisenstat, D. D. (2008). Homeobox genes in vertebrate forebrain development and disease. Clin. Genet. 73, 212-226.
-
(2008)
Clin. Genet
, vol.73
, pp. 212-226
-
-
Wigle, J.T.1
Eisenstat, D.D.2
-
87
-
-
14844353579
-
Arx homeobox gene is essential for development of mouse olfactory system
-
Yoshihara, S., Omichi, K., Yanazawa, M., Kitamura, K., and Yoshihara, Y. (2005). Arx homeobox gene is essential for development of mouse olfactory system. Development 132, 751-762.
-
(2005)
Development
, vol.132
, pp. 751-762
-
-
Yoshihara, S.1
Omichi, K.2
Yanazawa, M.3
Kitamura, K.4
Yoshihara, Y.5
|