-
1
-
-
0014739137
-
Embryonic vertebrate central nervous system: Revised terminology
-
The Boulder Committee
-
The Boulder Committee. Embryonic vertebrate central nervous system: revised terminology. Anat Rec 1970; 166:257-261.
-
(1970)
Anat Rec
, vol.166
, pp. 257-261
-
-
-
2
-
-
0029080470
-
Cleavage orientation and the asymmetric inheritance of Notch1 immunoreactivity in mammalian neurogenesis
-
Chenn A, McConnell SK. Cleavage orientation and the asymmetric inheritance of Notch1 immunoreactivity in mammalian neurogenesis. Cell 1995; 82:631-641.
-
(1995)
Cell
, vol.82
, pp. 631-641
-
-
Chenn, A.1
McConnell, S.K.2
-
3
-
-
1642458489
-
Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases
-
Noctor SC, Martinez-Cerdeno V, Ivic L, et al. Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases. Nat Neurosci 2004; 7:136-144.
-
(2004)
Nat Neurosci
, vol.7
, pp. 136-144
-
-
Noctor, S.C.1
Martinez-Cerdeno, V.2
Ivic, L.3
-
4
-
-
0030698872
-
Interneuron migration from basal forebrain to neocortex: Dependence on Dlx genes
-
Anderson SA, Eisenstat DD, Shi L, et al. Interneuron migration from basal forebrain to neocortex: dependence on Dlx genes. Science 1997; 278:474-476.
-
(1997)
Science
, vol.278
, pp. 474-476
-
-
Anderson, S.A.1
Eisenstat, D.D.2
Shi, L.3
-
5
-
-
0032826751
-
Differential origins of neocortical projection and local circuit neurons: Role of Dlx genes in neocortical interneuronogenesis
-
Anderson S, Mione M, Yun K, et al. Differential origins of neocortical projection and local circuit neurons: role of Dlx genes in neocortical interneuronogenesis. Cereb Cortex 1999; 9:646-654.
-
(1999)
Cereb Cortex
, vol.9
, pp. 646-654
-
-
Anderson, S.1
Mione, M.2
Yun, K.3
-
6
-
-
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
-
7
-
-
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
-
8
-
-
20144386602
-
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
-
Bond J, Roberts E, Springell K, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 2005; 37:353-355. First report that CDK5RAP and CENPJ were involved in autosomal recessive primary microcephaly by a centrosomal mechanism.
-
(2005)
Nat Genet
, vol.37
, pp. 353-355
-
-
Bond, J.1
Roberts, E.2
Springell, K.3
-
9
-
-
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
-
10
-
-
25444514085
-
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
-
Kouprina N, Pavlicek A, Collins NK, et al. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet 2005; 14:2155-2165.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2155-2165
-
-
Kouprina, N.1
Pavlicek, A.2
Collins, N.K.3
-
11
-
-
0025115595
-
Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts
-
Gonzalez C, Saunders RD, Casal J, et al. Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts. J Cell Sci 1990; 96 (Pt 4):605-616.
-
(1990)
J Cell Sci
, vol.96
, Issue.PART 4
, pp. 605-616
-
-
Gonzalez, C.1
Saunders, R.D.2
Casal, J.3
-
12
-
-
4544269236
-
Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1
-
Xu X, Lee J, Stern DF. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J Biol Chem 2004; 279:34091-34094.
-
(2004)
J Biol Chem
, vol.279
, pp. 34091-34094
-
-
Xu, X.1
Lee, J.2
Stern, D.F.3
-
13
-
-
33645229452
-
Microcephalin encodes a centrosomal protein
-
Zhong X, Pfeifer GP, Xu X. Microcephalin encodes a centrosomal protein. Cell Cycle 2006; 5:457-458.
-
(2006)
Cell Cycle
, vol.5
, pp. 457-458
-
-
Zhong, X.1
Pfeifer, G.P.2
Xu, X.3
-
14
-
-
32244446843
-
Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II
-
Trimborn M, Schindler D, Neitzel H, et al. Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle 2006; 5:322-326. This article demonstrates a likely cell proliferation defect due to microcephalin mutation. In this regard, it suggests that all the microcephaly genes are involved in some disruption in cell division.
-
(2006)
Cell Cycle
, vol.5
, pp. 322-326
-
-
Trimborn, M.1
Schindler, D.2
Neitzel, H.3
-
15
-
-
20044379739
-
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia
-
Chang BS, Ly J, Appignani B, et al. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology 2005; 64:799-803.
-
(2005)
Neurology
, vol.64
, pp. 799-803
-
-
Chang, B.S.1
Ly, J.2
Appignani, B.3
-
16
-
-
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
-
17
-
-
0021780127
-
Cortical actin structures and their relationship to mammalian cell movements
-
Hartwig JH, Niederman R, Lind SE. Cortical actin structures and their relationship to mammalian cell movements. Subcell Biochem 1985; 11:1-49.
-
(1985)
Subcell Biochem
, vol.11
, pp. 1-49
-
-
Hartwig, J.H.1
Niederman, R.2
Lind, S.E.3
-
18
-
-
0025184841
-
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): A molecular leaf spring
-
Gorlin JB, Yamin R, Egan S, et al. Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol 1990; 111:1089-1105.
-
(1990)
J Cell Biol
, vol.111
, pp. 1089-1105
-
-
Gorlin, J.B.1
Yamin, R.2
Egan, S.3
-
19
-
-
15844428980
-
Involvement of filamin A and filamin A-interacting protein (FILIP) in controlling the start and cell shape of radially migrating cortical neurons
-
Sato M, Nagano T. Involvement of filamin A and filamin A-interacting protein (FILIP) in controlling the start and cell shape of radially migrating cortical neurons. Anat Sci Int 2005; 80:19-29.
-
(2005)
Anat Sci Int
, vol.80
, pp. 19-29
-
-
Sato, M.1
Nagano, T.2
-
20
-
-
0036302046
-
Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone
-
Nagano T, Yoneda T, Hatanaka Y, et al. Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone. Nat Cell Biol 2002; 4:495-501.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 495-501
-
-
Nagano, T.1
Yoneda, T.2
Hatanaka, Y.3
-
21
-
-
9144274368
-
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
-
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.
-
(2004)
Nat Genet
, vol.36
, pp. 69-76
-
-
Sheen, V.L.1
Ganesh, V.S.2
Topcu, M.3
-
22
-
-
0033617147
-
Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors
-
Togawa A, Morinaga N, Ogasawara M, et al. Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. J Biol Chem 1999; 274:12308-12315.
-
(1999)
J Biol Chem
, vol.274
, pp. 12308-12315
-
-
Togawa, A.1
Morinaga, N.2
Ogasawara, M.3
-
23
-
-
0034646458
-
Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex
-
Yamaji R, Adamik R, Takeda K, et al. Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex. Proc Natl Acad Sci U S A 2000; 97:2567-2572.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 2567-2572
-
-
Yamaji, R.1
Adamik, R.2
Takeda, K.3
-
24
-
-
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
-
25
-
-
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; 63:51-56.
-
(2004)
Neurology
, vol.63
, pp. 51-56
-
-
Guerrini, R.1
Mei, D.2
Sisodiya, S.3
-
26
-
-
23844505254
-
Periventricular heterotopia
-
Lu J, Sheen V. Periventricular heterotopia. Epilepsy Behav 2005; 7:143-149.
-
(2005)
Epilepsy Behav
, vol.7
, pp. 143-149
-
-
Lu, J.1
Sheen, V.2
-
27
-
-
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, et al. 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 2005; 494:476-484. The paper reported a novel finding that ARFGEF2 affected transport of filamin A to neuroprogenitor membrane surface, and raised a new hypothesis that PH is not necessarily a disorder of neuronal motility, but rather reflects a problem with initial migration or cell adhesion.
-
(2005)
J Comp Neurol
, vol.494
, pp. 476-484
-
-
Lu, J.1
Tiao, G.2
Folkerth, R.3
-
28
-
-
0142164968
-
Role of beta-catenin in the developing cortical and hippocampal neuroepithelium
-
Machon O, Van den Bout CJ, Backman M, et al. Role of beta-catenin in the developing cortical and hippocampal neuroepithelium. Neuroscience 2003; 122:129-143.
-
(2003)
Neuroscience
, vol.122
, pp. 129-143
-
-
Machon, O.1
Van Den Bout, C.J.2
Backman, M.3
-
29
-
-
1442360430
-
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate
-
Chae TH, Kim S, Marz KE, et al. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet 2004; 36:264-270.
-
(2004)
Nat Genet
, vol.36
, pp. 264-270
-
-
Chae, T.H.1
Kim, S.2
Marz, K.E.3
-
30
-
-
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, 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; 6:157-164.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, C.S.2
Smith, A.C.3
-
31
-
-
0028825953
-
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome
-
Mizuguchi M, Takashima S, Kakita A, et al. Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. Am J Pathol 1995; 147:1142-1151.
-
(1995)
Am J Pathol
, vol.147
, pp. 1142-1151
-
-
Mizuguchi, M.1
Takashima, S.2
Kakita, A.3
-
32
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing Gprotein beta-subunit-like repeats
-
Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing Gprotein beta-subunit-like repeats. Nature 1993; 364:717-721.
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
-
33
-
-
7144222745
-
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
-
Des Portes V, Francis F, Pinard JM, et al. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 1998; 7:1063-1070.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1063-1070
-
-
Des Portes, V.1
Francis, F.2
Pinard, J.M.3
-
34
-
-
0034520636
-
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein
-
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.
-
(2000)
Neuron
, vol.28
, pp. 697-711
-
-
Niethammer, M.1
Smith, D.S.2
Ayala, R.3
-
35
-
-
0033777678
-
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function
-
Faulkner NE, Dujardin DL, Tai CY, et al. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol 2000; 2:784-791.
-
(2000)
Nat Cell Biol
, vol.2
, pp. 784-791
-
-
Faulkner, N.E.1
Dujardin, D.L.2
Tai, C.Y.3
-
36
-
-
5144222593
-
Mitotic spindle regulation by Nde1 controls cerebral cortical size
-
Feng Y, Walsh CA. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 2004; 44:279-293.
-
(2004)
Neuron
, vol.44
, pp. 279-293
-
-
Feng, Y.1
Walsh, C.A.2
-
37
-
-
33745728397
-
Impaired proliferation and migration in human Miller-Dieker neural precursors
-
Sheen VL, Ferland RJ, Harney M, et al. Impaired proliferation and migration in human Miller-Dieker neural precursors. Ann Neurol 2006; 60:137-144. The paper reported a new observation that human Miller-Dieker neural precursors have an inadequate capacity of not only cell proliferation, but also migration.
-
(2006)
Ann Neurol
, vol.60
, pp. 137-144
-
-
Sheen, V.L.1
Ferland, R.J.2
Harney, M.3
-
38
-
-
33646236320
-
Neocortical neuronal arrangement in Miller Dieker syndrome
-
(Berl)
-
Sheen VL, Ferland RJ, Neal J, et al. Neocortical neuronal arrangement in Miller Dieker syndrome. Acta Neuropathol (Berl) 2006; 111:489-496.
-
(2006)
Acta Neuropathol
, vol.111
, pp. 489-496
-
-
Sheen, V.L.1
Ferland, R.J.2
Neal, J.3
-
39
-
-
33744827404
-
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development
-
Vallee RB, Tsai JW. The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development.Genes Dev 2006; 20:1384-1393. Review of the cellular roles of LIS1 in giving rise to type I lissencephaly.
-
(2006)
Genes Dev
, vol.20
, pp. 1384-1393
-
-
Vallee, R.B.1
Tsai, J.W.2
-
40
-
-
29544450409
-
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth
-
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. The studies show that rodent animal DCX plays a crucial function on neuronal migration and axon outgrowth by its cooperation with DCX-like kinase.
-
(2006)
Neuron
, vol.49
, pp. 41-53
-
-
Deuel, T.A.1
Liu, J.S.2
Corbo, J.C.3
-
41
-
-
33745684607
-
Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain
-
Koizumi H, Higginbotham H, Poon T, et al. Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci 2006; 9:779-786. This study demonstrates that a defect of a cell motility (or migration) is due to DCX. The longer distance of migration along the rostral migratory stream may have been necessary to produce a phenotype.
-
(2006)
Nat Neurosci
, vol.9
, pp. 779-786
-
-
Koizumi, H.1
Higginbotham, H.2
Poon, T.3
-
42
-
-
29544446945
-
Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration
-
••], another significant study of DCX function.
-
(2006)
Neuron
, vol.49
, pp. 55-66
-
-
Koizumi, H.1
Tanaka, T.2
Gleeson, J.G.3
-
43
-
-
29544438645
-
Doublecortin-like kinase controls neurogenesis by regulating mitotic spindles and M phase progression
-
••], another significant study of DCX function.
-
(2006)
Neuron
, vol.49
, pp. 25-39
-
-
Shu, T.1
Tseng, H.C.2
Sapir, T.3
-
44
-
-
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
-
45
-
-
0033152450
-
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
-
Gleeson JG, Lin PT, Flanagan LA, et al. 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
-
-
Gleeson, J.G.1
Lin, P.T.2
Flanagan, L.A.3
-
46
-
-
0344395644
-
RNAi reveals doublecortin is required for radial migration in rat neocortex
-
Bai J, Ramos RL, Ackman JB, et al. RNAi reveals doublecortin is required for radial migration in rat neocortex. Nat Neurosci 2003; 6:1277-1283.
-
(2003)
Nat Neurosci
, vol.6
, pp. 1277-1283
-
-
Bai, J.1
Ramos, R.L.2
Ackman, J.B.3
-
47
-
-
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
-
48
-
-
23944470349
-
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
-
Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005; 77:477-483. Deletion of very-low-density lipoprotein receptor gene caused autosomal recessive cerebellar hypoplasia and was determined to be present in Hutterite population by an identity-by descent mapping approach.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 477-483
-
-
Boycott, K.M.1
Flavelle, S.2
Bureau, A.3
-
50
-
-
0033003134
-
Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2
-
Trommsdorff M, Gotthardt M, Hiesberger T, et al. Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell 1999; 97:689-701.
-
(1999)
Cell
, vol.97
, pp. 689-701
-
-
Trommsdorff, M.1
Gotthardt, M.2
Hiesberger, T.3
-
51
-
-
26944438148
-
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
-
Van Reeuwijk J, Janssen M, Van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005; 42:907-912. First report that POMT2 mutations were involved in Walker-Warburg syndrome.
-
(2005)
J Med Genet
, vol.42
, pp. 907-912
-
-
Van Reeuwijk, J.1
Janssen, M.2
Van Den Elzen, C.3
-
52
-
-
1842453359
-
Defective glycosylation in congenital muscular dystrophies
-
Muntoni F, Brockington M, Torelli S, et al. Defective glycosylation in congenital muscular dystrophies. Curr Opin Neurol 2004; 17:205-209.
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 205-209
-
-
Muntoni, F.1
Brockington, M.2
Torelli, S.3
-
53
-
-
12444307485
-
Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: Consideration for functions of fukutin
-
Yamamoto T, Kato Y, Kawaguchi M, et al. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin. Med Electron Microsc 2004; 37:200-207.
-
(2004)
Med Electron Microsc
, vol.37
, pp. 200-207
-
-
Yamamoto, T.1
Kato, Y.2
Kawaguchi, M.3
-
54
-
-
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
-
55
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal 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
-
56
-
-
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
-
57
-
-
0037173670
-
Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
Michele DE, Barresi R, Kanagawa M, et al. Posttranslational 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
-
58
-
-
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
|