-
1
-
-
0036302105
-
Identification of microcephalin, a protein implicated in determining the size of the human brain
-
Jackson AP, Eastwood H, Bell SM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002;71:136-142.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 136-142
-
-
Jackson, A.P.1
Eastwood, H.2
Bell, S.M.3
-
2
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
Bond J, Roberts E, Mochida GH, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002;32:316-320.
-
(2002)
Nat Genet
, vol.32
, pp. 316-320
-
-
Bond, J.1
Roberts, E.2
Mochida, G.H.3
-
3
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998;93:467-476.
-
(1998)
Cell
, vol.93
, pp. 467-476
-
-
Varon, R.1
Vissinga, C.2
Platzer, M.3
-
4
-
-
17344372572
-
Positional cloning of the gene for Nijmegen breakage syndrome
-
Matsuura S, Tauchi H, Nakamura A, et al. Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet. 1998;19:179-181.
-
(1998)
Nat Genet
, vol.19
, pp. 179-181
-
-
Matsuura, S.1
Tauchi, H.2
Nakamura, A.3
-
5
-
-
0030065606
-
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
-
Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996;12:94-96.
-
(1996)
Nat Genet
, vol.12
, pp. 94-96
-
-
Brunelli, S.1
Faiella, A.2
Capra, V.3
-
6
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-808.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
-
7
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
8
-
-
0028023599
-
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase
-
Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. Nature. 1994;370:216-218.
-
(1994)
Nature
, vol.370
, pp. 216-218
-
-
Hattori, M.1
Adachi, H.2
Tsujimoto, M.3
Arai, H.4
Inoue, K.5
-
9
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X-linked subcorticall 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 subcorticall 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
-
10
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly lissencephaly and double cortex syndrome, encodes a putafive signaling protein
-
Gleeson JG, Allen KM, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly lissencephaly and double cortex syndrome, encodes a putafive 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
-
11
-
-
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;26:93-96.
-
(2000)
Nat Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
-
12
-
-
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, 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;32:359-369.
-
(2002)
Nat Genet
, vol.32
, pp. 359-369
-
-
Kitamura, K.1
Yanazawa, M.2
Sugiyama, N.3
-
13
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315-1325.
-
(1998)
Neuron
, vol.21
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
-
14
-
-
0032560851
-
An ancient retratransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retratransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388-392.
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
-
15
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001;1:717-724.
-
(2001)
Dev Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
-
16
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033-1043.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1033-1043
-
-
Beltran-Valero De Bernabe, D.1
Currier, S.2
Steinbrecher, A.3
-
17
-
-
0026510716
-
Widespread dispersion of neuronal clones across functional regions of the cerebral cortex
-
Walsh C, Cepko CL. Widespread dispersion of neuronal clones across functional regions of the cerebral cortex. Science. 1992;255:434-440.
-
(1992)
Science
, vol.255
, pp. 434-440
-
-
Walsh, C.1
Cepko, C.L.2
-
18
-
-
0015846291
-
Neuronal migration, with special reference to developing human brain: A review
-
Sidman RL, Rakic P. Neuronal migration, with special reference to developing human brain: a review. Brain Res. 1973;62:1-35.
-
(1973)
Brain Res
, vol.62
, pp. 1-35
-
-
Sidman, R.L.1
Rakic, P.2
-
19
-
-
0025006723
-
Origin, formation, and prenatal maturation of the human cerebral cortex: An overview
-
Marin-Padilla M. Origin, formation, and prenatal maturation of the human cerebral cortex: an overview. J Craniofac Genet Dev Biol. 1990;10:137-146.
-
(1990)
J Craniofac Genet Dev Biol
, vol.10
, pp. 137-146
-
-
Marin-Padilla, M.1
-
20
-
-
0035066971
-
Molecular genetics of human microcephaly
-
Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol. 2001;14:151-156.
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 151-156
-
-
Mochida, G.H.1
Walsh, C.A.2
-
21
-
-
18644367387
-
Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
-
Roberts E, Hampshire DJ, Pattison L, et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002;39:718-721.
-
(2002)
J Med Genet
, vol.39
, pp. 718-721
-
-
Roberts, E.1
Hampshire, D.J.2
Pattison, L.3
-
22
-
-
0038163514
-
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
-
Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet. 2003;40:540-542.
-
(2003)
J Med Genet
, vol.40
, pp. 540-542
-
-
Leal, G.F.1
Roberts, E.2
Silva, E.O.3
Costa, S.M.4
Hampshire, D.J.5
Woods, C.G.6
-
23
-
-
0033548590
-
Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers
-
do Carmo Avides M, Glover DM. Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers. Science. 1999;283:1733-1735.
-
(1999)
Science
, vol.283
, pp. 1733-1735
-
-
Do Carmo Avides, M.1
Glover, D.M.2
-
24
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997;6:157-164.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, C.S.2
Smith, A.C.3
Dobyns, W.B.4
Carrozzo, R.5
Ledbetter, D.H.6
-
25
-
-
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. 1999;23:247-256.
-
(1999)
Neuron
, vol.23
, pp. 247-256
-
-
Francis, F.1
Koulakoff, A.2
Boucher, D.3
-
26
-
-
0033152450
-
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
-
Gleason JG, Lin PT, Flanagan LA, Walsh CA. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 1999;23:257-271.
-
(1999)
Neuron
, vol.23
, pp. 257-271
-
-
Gleason, J.G.1
Lin, P.T.2
Flanagan, L.A.3
Walsh, C.A.4
-
27
-
-
0032832998
-
Doublecortin, a stabilizer of microtubules
-
Horesh D, Sapir T, Francis F, et al. Doublecortin, a stabilizer of microtubules. Hum Mol Genet. 1999;8:1599-1610.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1599-1610
-
-
Horesh, D.1
Sapir, T.2
Francis, F.3
-
28
-
-
0034517593
-
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome
-
Feng Y, Olson EC, Stukenberg PT, Flanagan LA, Kirschner MW, Walsh CA. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000;28:665-679.
-
(2000)
Neuron
, vol.28
, pp. 665-679
-
-
Feng, Y.1
Olson, E.C.2
Stukenberg, P.T.3
Flanagan, L.A.4
Kirschner, M.W.5
Walsh, C.A.6
-
29
-
-
0028940096
-
A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
-
D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature. 1995;374:719-723.
-
(1995)
Nature
, vol.374
, pp. 719-723
-
-
D'Arcangelo, G.1
Miao, G.G.2
Chen, S.C.3
Soares, H.D.4
Morgan, J.I.5
Curran, T.6
-
30
-
-
0033624279
-
Reelin binds α3β1 integrin and inhibits neuronal migration
-
Dulabon L, Olson EC, Taglienti MG, et al. Reelin binds α3β1 integrin and inhibits neuronal migration. Neuron. 2000;27:33-44.
-
(2000)
Neuron
, vol.27
, pp. 33-44
-
-
Dulabon, L.1
Olson, E.C.2
Taglienti, M.G.3
-
31
-
-
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;10:1775-1783.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1775-1783
-
-
Sheen, V.L.1
Dixon, P.H.2
Fox, J.W.3
-
32
-
-
0037418837
-
Migfilin and mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation
-
Tu Y, Wu S, Shi X, Chen K, Wu C. Migfilin and mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. Cell. 2003;113:37-47.
-
(2003)
Cell
, vol.113
, pp. 37-47
-
-
Tu, Y.1
Wu, S.2
Shi, X.3
Chen, K.4
Wu, C.5
-
33
-
-
0037426404
-
Autosomal recessive form of periventricular heterotopia
-
Sheen VL, Topcu M, Berkovic S, et al. Autosomal recessive form of periventricular heterotopia. Neurology. 2003;60:1108-1112.
-
(2003)
Neurology
, vol.60
, pp. 1108-1112
-
-
Sheen, V.L.1
Topcu, M.2
Berkovic, S.3
-
34
-
-
0037465847
-
Periventricular heterotopia associated with chromosome 5p anomalies
-
Sheen VL, Wheless JW, Bodell A, et al. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003;60:1033-1036.
-
(2003)
Neurology
, vol.60
, pp. 1033-1036
-
-
Sheen, V.L.1
Wheless, J.W.2
Bodell, A.3
-
35
-
-
0033581949
-
The fukutin protein family - Predicted enzymes modifying cell-surface molecules
-
Aravind L, Koonin EV. The fukutin protein family - predicted enzymes modifying cell-surface molecules. Curr Biol. 1999;9:R836-R837.
-
(1999)
Curr Biol
, vol.9
-
-
Aravind, L.1
Koonin, E.V.2
-
36
-
-
0037173629
-
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
-
Moore SA, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002;418:422-425.
-
(2002)
Nature
, vol.418
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
-
37
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-422.
-
(2002)
Nature
, vol.418
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
|