-
1
-
-
52949138731
-
Autism: Definition, neurobiology, screening, diagnosis
-
viii
-
Autism: definition, neurobiology, screening, diagnosis. Rapin I, Tuchman RF, Pediatr Clin North Am 2008 46 1129 viii
-
(2008)
Pediatr Clin North Am
, vol.46
, pp. 1129
-
-
Rapin, I.1
Tuchman, R.F.2
-
2
-
-
33745964945
-
The developmental neurobiology of autism spectrum disorder
-
10.1523/JNEUROSCI.1712-06.2006 16807320
-
The developmental neurobiology of autism spectrum disorder. Dicicco-Bloom E, Lord C, Zwaigenbaum L, Courchesne E, Dager SR, Schmitz C, Schultz RT, Crawley J, Young LJ, J Neurosci 2006 26 6897 6906 10.1523/JNEUROSCI.1712-06.2006 16807320
-
(2006)
J Neurosci
, vol.26
, pp. 6897-6906
-
-
Dicicco-Bloom, E.1
Lord, C.2
Zwaigenbaum, L.3
Courchesne, E.4
Dager, S.R.5
Schmitz, C.6
Schultz, R.T.7
Crawley, J.8
Young, L.J.9
-
3
-
-
35148839591
-
The neurobiology of autism
-
10.1111/j.1750-3639.2007.00102.x 17919129
-
The neurobiology of autism. Pardo CA, Eberhart CG, Brain Pathol 2007 17 434 447 10.1111/j.1750-3639.2007.00102.x 17919129
-
(2007)
Brain Pathol
, vol.17
, pp. 434-447
-
-
Pardo, C.A.1
Eberhart, C.G.2
-
4
-
-
4944227121
-
Brain development in autism: Early overgrowth followed by premature arrest of growth
-
10.1002/mrdd.20020 15362165
-
Brain development in autism: early overgrowth followed by premature arrest of growth. Courchesne E, Ment Retard Dev Disabil Res Rev 2004 10 106 111 10.1002/mrdd.20020 15362165
-
(2004)
Ment Retard Dev Disabil Res Rev
, vol.10
, pp. 106-111
-
-
Courchesne, E.1
-
5
-
-
0031897162
-
A clinicopathological study of autism
-
10.1093/brain/121.5.889 9619192
-
A clinicopathological study of autism. Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P, Brain 1998 121 889 905 10.1093/brain/121.5.889 9619192
-
(1998)
Brain
, vol.121
, pp. 889-905
-
-
Bailey, A.1
Luthert, P.2
Dean, A.3
Harding, B.4
Janota, I.5
Montgomery, M.6
Rutter, M.7
Lantos, P.8
-
6
-
-
81555207759
-
Gene expression studies in autism: Moving from the genome to the transcriptome and beyond
-
10.1016/j.nbd.2011.07.017 21839838
-
Gene expression studies in autism: moving from the genome to the transcriptome and beyond. Voineagu I, Neurobiol Dis 2012 45 69 75 10.1016/j.nbd.2011.07.017 21839838
-
(2012)
Neurobiol Dis
, vol.45
, pp. 69-75
-
-
Voineagu, I.1
-
7
-
-
84884338166
-
The genetic landscapes of autism spectrum disorders
-
10.1146/annurev-genom-091212-153431 23875794
-
The genetic landscapes of autism spectrum disorders. Huguet G, Ey E, Bourgeron T, Annu Rev Genomics Hum Genet 2013 14 191 213 10.1146/annurev-genom- 091212-153431 23875794
-
(2013)
Annu Rev Genomics Hum Genet
, vol.14
, pp. 191-213
-
-
Huguet, G.1
Ey, E.2
Bourgeron, T.3
-
8
-
-
81955163096
-
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome
-
10.1016/j.nbd.2010.11.010 21130877
-
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome. Lintas C, Sacco R, Persico AM, Neurobiol Dis 2012 45 57 68 10.1016/j.nbd.2010.11.010 21130877
-
(2012)
Neurobiol Dis
, vol.45
, pp. 57-68
-
-
Lintas, C.1
Sacco, R.2
Persico, A.M.3
-
9
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
10.1038/nature10110 21614001
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH, Nature 2011 474 380 384 10.1038/nature10110 21614001
-
(2011)
Nature
, vol.474
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
Lowe, J.K.4
Tian, Y.5
Horvath, S.6
Mill, J.7
Cantor, R.M.8
Blencowe, B.J.9
Geschwind, D.H.10
-
10
-
-
74349097700
-
The Engrailed homeobox genes determine the different foliation patterns in the vermis and hemispheres of the mammalian cerebellum
-
10.1242/dev.027045 20081196
-
The Engrailed homeobox genes determine the different foliation patterns in the vermis and hemispheres of the mammalian cerebellum. Cheng Y, Sudarov A, Szulc KU, Sgaier SK, Stephen D, Turnbull DH, Joyner AL, Development 2010 137 519 529 10.1242/dev.027045 20081196
-
(2010)
Development
, vol.137
, pp. 519-529
-
-
Cheng, Y.1
Sudarov, A.2
Szulc, K.U.3
Sgaier, S.K.4
Stephen, D.5
Turnbull, D.H.6
Joyner, A.L.7
-
11
-
-
33750337264
-
The engrailed transcription factors and the mesencephalic dopaminergic neurons
-
17017508
-
The engrailed transcription factors and the mesencephalic dopaminergic neurons. Gherbassi D, Simon HH, J Neural Transm Suppl 2006 70 47 55 17017508
-
(2006)
J Neural Transm Suppl
, vol.70
, pp. 47-55
-
-
Gherbassi, D.1
Simon, H.H.2
-
12
-
-
12344271831
-
The genetics of early cerebellar development: Networks not pathways
-
15661178
-
The genetics of early cerebellar development: networks not pathways. Herrup K, Murcia C, Gulden F, Kuemerle B, Bilovocky N, Prog Brain Res 2005 148 21 27 15661178
-
(2005)
Prog Brain Res
, vol.148
, pp. 21-27
-
-
Herrup, K.1
Murcia, C.2
Gulden, F.3
Kuemerle, B.4
Bilovocky, N.5
-
13
-
-
0030069671
-
Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development
-
10.1016/0168-9525(96)81383-7 8741855
-
Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development. Joyner AL, Trends Genet 1996 12 15 20 10.1016/0168-9525(96)81383-7 8741855
-
(1996)
Trends Genet
, vol.12
, pp. 15-20
-
-
Joyner, A.L.1
-
14
-
-
34347336583
-
Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins
-
10.1242/dev.000620 17537797
-
Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins. Sgaier SK, Lao Z, Villanueva MP, Berenshteyn F, Stephen D, Turnbull RK, Joyner AL, Development 2007 134 2325 2335 10.1242/dev.000620 17537797
-
(2007)
Development
, vol.134
, pp. 2325-2335
-
-
Sgaier, S.K.1
Lao, Z.2
Villanueva, M.P.3
Berenshteyn, F.4
Stephen, D.5
Turnbull, R.K.6
Joyner, A.L.7
-
15
-
-
84861662792
-
The engrailed homeobox genes are required in multiple cell lineages to coordinate sequential formation of fissures and growth of the cerebellum
-
10.1016/j.ydbio.2012.04.018 22564796
-
The engrailed homeobox genes are required in multiple cell lineages to coordinate sequential formation of fissures and growth of the cerebellum. Orvis GD, Hartzell AL, Smith JB, Barraza LH, Wilson SL, Szulc KU, Turnbull DH, Joyner AL, Dev Biol 2012 367 25 39 10.1016/j.ydbio.2012.04.018 22564796
-
(2012)
Dev Biol
, vol.367
, pp. 25-39
-
-
Orvis, G.D.1
Hartzell, A.L.2
Smith, J.B.3
Barraza, L.H.4
Wilson, S.L.5
Szulc, K.U.6
Turnbull, D.H.7
Joyner, A.L.8
-
16
-
-
3142523276
-
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder
-
10.1038/sj.mp.4001498 15024396
-
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH, Mol Psychiatry 2004 9 474 484 10.1038/sj.mp.4001498 15024396
-
(2004)
Mol Psychiatry
, vol.9
, pp. 474-484
-
-
Gharani, N.1
Benayed, R.2
Mancuso, V.3
Brzustowicz, L.M.4
Millonig, J.H.5
-
17
-
-
27244454668
-
Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus
-
10.1086/497705 16252243
-
Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, Bruse SE, Tischfield S, Smith BJ, Zimmerman RA, Dicicco-Bloom E, Brzustowicz LM, Millonig JH, Am J Hum Genet 2005 77 851 868 10.1086/497705 16252243
-
(2005)
Am J Hum Genet
, vol.77
, pp. 851-868
-
-
Benayed, R.1
Gharani, N.2
Rossman, I.3
Mancuso, V.4
Lazar, G.5
Kamdar, S.6
Bruse, S.E.7
Tischfield, S.8
Smith, B.J.9
Zimmerman, R.A.10
Dicicco-Bloom, E.11
Brzustowicz, L.M.12
Millonig, J.H.13
-
18
-
-
70350566008
-
Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2
-
10.1016/j.biopsych.2009.05.027 19615670
-
Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. Benayed R, Choi J, Matteson PG, Gharani N, Kamdar S, Brzustowicz LM, Millonig JH, Biol Psychiatry 2009 66 911 917 10.1016/j.biopsych.2009.05.027 19615670
-
(2009)
Biol Psychiatry
, vol.66
, pp. 911-917
-
-
Benayed, R.1
Choi, J.2
Matteson, P.G.3
Gharani, N.4
Kamdar, S.5
Brzustowicz, L.M.6
Millonig, J.H.7
-
19
-
-
84874340720
-
Complex epigenetic regulation of Engrailed-2 (EN-2) homeobox gene in the autism cerebellum
-
10.1038/tp.2013.8 23423141
-
Complex epigenetic regulation of Engrailed-2 (EN-2) homeobox gene in the autism cerebellum. James SJ, Shpyleva S, Melnyk S, Pavliv O, Pogribny IP, Transl Psychiatry 2013 3 232 10.1038/tp.2013.8 23423141
-
(2013)
Transl Psychiatry
, vol.3
, pp. 5232
-
-
James, S.J.1
Shpyleva, S.2
Melnyk, S.3
Pavliv, O.4
Pogribny, I.P.5
-
20
-
-
0025884460
-
Subtle cerebellar phenotype in mice homozygous for a targeted deletion of the En-2 homeobox
-
10.1126/science.1672471 1672471
-
Subtle cerebellar phenotype in mice homozygous for a targeted deletion of the En-2 homeobox. Joyner AL, Herrup K, Auerbach BA, Davis CA, Rossant J, Science 1991 251 1239 1243 10.1126/science.1672471 1672471
-
(1991)
Science
, vol.251
, pp. 1239-1243
-
-
Joyner, A.L.1
Herrup, K.2
Auerbach, B.A.3
Davis, C.A.4
Rossant, J.5
-
21
-
-
0028325992
-
Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants
-
7909289
-
Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. Millen KJ, Wurst W, Herrup K, Joyner AL, Development 1994 120 695 706 7909289
-
(1994)
Development
, vol.120
, pp. 695-706
-
-
Millen, K.J.1
Wurst, W.2
Herrup, K.3
Joyner, A.L.4
-
22
-
-
0029585838
-
A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum
-
8575294
-
A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum. Millen KJ, Hui CC, Joyner AL, Development 1995 121 3935 3945 8575294
-
(1995)
Development
, vol.121
, pp. 3935-3945
-
-
Millen, K.J.1
Hui, C.C.2
Joyner, A.L.3
-
23
-
-
0030826381
-
Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development
-
9315908
-
Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development. Kuemerle B, Zanjani H, Joyner A, Herrup K, J Neurosci 1997 17 7881 7889 9315908
-
(1997)
J Neurosci
, vol.17
, pp. 7881-7889
-
-
Kuemerle, B.1
Zanjani, H.2
Joyner, A.3
Herrup, K.4
-
24
-
-
9044254932
-
Impaired motor learning performance in cerebellar En-2 mutant mice
-
8652061
-
Impaired motor learning performance in cerebellar En-2 mutant mice. Gerlai R, Millen KJ, Herrup K, Fabien K, Joyner AL, Roder J, Behav Neurosci 1996 110 126 133 8652061
-
(1996)
Behav Neurosci
, vol.110
, pp. 126-133
-
-
Gerlai, R.1
Millen, K.J.2
Herrup, K.3
Fabien, K.4
Joyner, A.L.5
Roder, J.6
-
25
-
-
33749254952
-
En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder
-
10.1016/j.brainres.2006.07.086 16935268
-
En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder. Cheh MA, Millonig JH, Roselli LM, Ming X, Jacobsen E, Kamdar S, Wagner GC, Brain Res 2006 1116 166 176 10.1016/j.brainres.2006.07.086 16935268
-
(2006)
Brain Res
, vol.1116
, pp. 166-176
-
-
Cheh, M.A.1
Millonig, J.H.2
Roselli, L.M.3
Ming, X.4
Jacobsen, E.5
Kamdar, S.6
Wagner, G.C.7
-
26
-
-
84864027269
-
Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice
-
10.1371/journal.pone.0040914 22829897
-
Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice. Brielmaier J, Matteson PG, Silverman JL, Senerth JM, Kelly S, Genestine M, Millonig JH, Dicicco-Bloom E, Crawley JN, PLoS ONE 2012 7 40914 10.1371/journal.pone.0040914 22829897
-
(2012)
PLoS ONE
, vol.7
, pp. 540914
-
-
Brielmaier, J.1
Matteson, P.G.2
Silverman, J.L.3
Senerth, J.M.4
Kelly, S.5
Genestine, M.6
Millonig, J.H.7
Dicicco-Bloom, E.8
Crawley, J.N.9
-
27
-
-
84881378088
-
Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: Implications for autism spectrum disorders
-
23360806
-
Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: Implications for autism spectrum disorders. Sgadò P, Genovesi S, Kalinovsky A, Zunino G, Macchi F, Allegra M, Murenu E, Provenzano G, Tripathi PP, Casarosa S, Joyner AL, Bozzi Y, Exp Neurol 2013 247 496 505 23360806
-
(2013)
Exp Neurol
, vol.247
, pp. 496-505
-
-
Sgadò, P.1
Genovesi, S.2
Kalinovsky, A.3
Zunino, G.4
Macchi, F.5
Allegra, M.6
Murenu, E.7
Provenzano, G.8
Tripathi, P.P.9
Casarosa, S.10
Joyner, A.L.11
Bozzi, Y.12
-
28
-
-
33751006151
-
RankProd: A bioconductor package for detecting differentially expressed genes in meta-analysis
-
10.1093/bioinformatics/btl476 16982708
-
RankProd: a bioconductor package for detecting differentially expressed genes in meta-analysis. Hong F, Breitling R, McEntee CW, Wittner BS, Nemhauser JL, Chory J, Bioinformatics 2006 22 2825 2827 10.1093/bioinformatics/btl476 16982708
-
(2006)
Bioinformatics
, vol.22
, pp. 2825-2827
-
-
Hong, F.1
Breitling, R.2
McEntee, C.W.3
Wittner, B.S.4
Nemhauser, J.L.5
Chory, J.6
-
29
-
-
4344571581
-
Rank products: A simple, yet powerful, new method to detect differentially regulated genes in replicated microarray experiments
-
10.1016/j.febslet.2004.07.055 15327980
-
Rank products: a simple, yet powerful, new method to detect differentially regulated genes in replicated microarray experiments. Breitling R, Armengaud P, Amtmann A, Herzyk P, FEBS Lett 2004 573 83 92 10.1016/j.febslet.2004.07.055 15327980
-
(2004)
FEBS Lett
, vol.573
, pp. 83-92
-
-
Breitling, R.1
Armengaud, P.2
Amtmann, A.3
Herzyk, P.4
-
30
-
-
60849125379
-
Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice
-
10.1016/j.neuroscience.2009.01.007 19186208
-
Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice. Tripathi PP, Sgado P, Scali M, Viaggi C, Casarosa S, Simon HH, Vaglini F, Corsini GU, Bozzi Y, Neuroscience 2009 159 842 849 10.1016/j.neuroscience.2009.01.007 19186208
-
(2009)
Neuroscience
, vol.159
, pp. 842-849
-
-
Tripathi, P.P.1
Sgado, P.2
Scali, M.3
Viaggi, C.4
Casarosa, S.5
Simon, H.H.6
Vaglini, F.7
Corsini, G.U.8
Bozzi, Y.9
-
31
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
10.1093/nar/29.9.e45 11328886
-
A new mathematical model for relative quantification in real-time RT-PCR. Pfaffl MW, Nucleic Acids Res 2001 29 45 10.1093/nar/29.9.e45 11328886
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 545
-
-
Pfaffl, M.W.1
-
32
-
-
84865840380
-
Functional morphological imaging of autism spectrum disorders: Current position and theories proposed
-
10.1016/j.diii.2012.01.007 22421278
-
Functional morphological imaging of autism spectrum disorders: current position and theories proposed. Lauvin M-A, Martineau J, Destrieux C, Andersson F, Bonnet-Brilhault F, Gomot M, El-Hage W, Cottier J-P, Diagn Interv Imaging 2012 93 139 147 10.1016/j.diii.2012.01.007 22421278
-
(2012)
Diagn Interv Imaging
, vol.93
, pp. 139-147
-
-
Lauvin, M.-A.1
Martineau, J.2
Destrieux, C.3
Andersson, F.4
Bonnet-Brilhault, F.5
Gomot, M.6
El-Hage, W.7
Cottier, J.-P.8
-
33
-
-
4344626928
-
Superior temporal sulcus anatomical abnormalities in childhood autism: A voxel-based morphometry MRI study
-
10.1016/j.neuroimage.2004.06.016 15325384
-
Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study. Boddaert N, Chabane N, Gervais H, Good CD, Bourgeois M, Plumet M-H, Barthélémy C, Mouren M-C, Artiges E, Samson Y, Brunelle F, Frackowiak RSJ, Zilbovicius M, Neuroimage 2004 23 364 369 10.1016/j.neuroimage.2004.06.016 15325384
-
(2004)
Neuroimage
, vol.23
, pp. 364-369
-
-
Boddaert, N.1
Chabane, N.2
Gervais, H.3
Good, C.D.4
Bourgeois, M.5
Plumet, M.-H.6
Barthélémy, C.7
Mouren, M.-C.8
Artiges, E.9
Samson, Y.10
Brunelle, F.11
Frackowiak, R.S.J.12
Zilbovicius, M.13
-
34
-
-
24644506597
-
Autism severity and temporal lobe functional abnormalities
-
10.1002/ana.20597 16130096
-
Autism severity and temporal lobe functional abnormalities. Gendry Meresse I, Zilbovicius M, Boddaert N, Robel L, Philippe A, Sfaello I, Laurier L, Brunelle F, Samson Y, Mouren M-C, Chabane N, Ann Neurol 2005 58 466 469 10.1002/ana.20597 16130096
-
(2005)
Ann Neurol
, vol.58
, pp. 466-469
-
-
Gendry Meresse, I.1
Zilbovicius, M.2
Boddaert, N.3
Robel, L.4
Philippe, A.5
Sfaello, I.6
Laurier, L.7
Brunelle, F.8
Samson, Y.9
Mouren, M.-C.10
Chabane, N.11
-
35
-
-
26844450908
-
The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information
-
10.1186/gb-2005-6-5-p7 15642099
-
The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information. Smith CL, Goldsmith C-AW, Eppig JT, Genome Biol 2005 6 7 10.1186/gb-2005-6-5-p7 15642099
-
(2005)
Genome Biol
, vol.6
, pp. 187
-
-
Smith, C.L.1
Goldsmith, C.-A.2
Eppig, J.T.3
-
36
-
-
38049136610
-
Improved human disease candidate gene prioritization using mouse phenotype
-
10.1186/1471-2105-8-392 17939863
-
Improved human disease candidate gene prioritization using mouse phenotype. Chen J, Xu H, Aronow BJ, Jegga AG, BMC Bioinformatics 2007 8 392 10.1186/1471-2105-8-392 17939863
-
(2007)
BMC Bioinformatics
, vol.8
, pp. 392
-
-
Chen, J.1
Xu, H.2
Aronow, B.J.3
Jegga, A.G.4
-
37
-
-
80053220669
-
Engrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex i insults
-
10.1038/nn.2916 21892157
-
Engrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex I insults. Alvarez-Fischer D, Fuchs J, Castagner F, Stettler O, Massiani-Beaudoin O, Moya KL, Bouillot C, Oertel WH, Lombès A, Faigle W, Joshi RL, Hartmann A, Prochiantz A, Nat Neurosci 2011 14 1260 1266 10.1038/nn.2916 21892157
-
(2011)
Nat Neurosci
, vol.14
, pp. 1260-1266
-
-
Alvarez-Fischer, D.1
Fuchs, J.2
Castagner, F.3
Stettler, O.4
Massiani-Beaudoin, O.5
Moya, K.L.6
Bouillot, C.7
Oertel, W.H.8
Lombès, A.9
Faigle, W.10
Joshi, R.L.11
Hartmann, A.12
Prochiantz, A.13
-
38
-
-
33750061314
-
Slow progressive degeneration of nigral dopaminergic neurons in postnatal Engrailed mutant mice
-
10.1073/pnas.0602116103 17015829
-
Slow progressive degeneration of nigral dopaminergic neurons in postnatal Engrailed mutant mice. Sgadò P, Albéri L, Gherbassi D, Galasso SL, Ramakers GMJ, Alavian KN, Smidt MP, Dyck RH, Simon HH, Proc Natl Acad Sci USA 2006 103 15242 15247 10.1073/pnas.0602116103 17015829
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15242-15247
-
-
Sgadò, P.1
Albéri, L.2
Gherbassi, D.3
Galasso, S.L.4
Ramakers, G.M.J.5
Alavian, K.N.6
Smidt, M.P.7
Dyck, R.H.8
Simon, H.H.9
-
39
-
-
0035856428
-
Postmortem brain abnormalities of the glutamate neurotransmitter system in autism
-
10.1212/WNL.57.9.1618 11706102
-
Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J, Neurology 2001 57 1618 1628 10.1212/WNL.57.9.1618 11706102
-
(2001)
Neurology
, vol.57
, pp. 1618-1628
-
-
Purcell, A.E.1
Jeon, O.H.2
Zimmerman, A.W.3
Blue, M.E.4
Pevsner, J.5
-
40
-
-
43849112803
-
Immune transcriptome alterations in the temporal cortex of subjects with autism
-
10.1016/j.nbd.2008.01.012 18378158
-
Immune transcriptome alterations in the temporal cortex of subjects with autism. Garbett K, Ebert PJ, Mitchell A, Lintas C, Manzi B, Mirnics K, Persico AM, Neurobiol Dis 2008 30 303 311 10.1016/j.nbd.2008.01.012 18378158
-
(2008)
Neurobiol Dis
, vol.30
, pp. 303-311
-
-
Garbett, K.1
Ebert, P.J.2
Mitchell, A.3
Lintas, C.4
Manzi, B.5
Mirnics, K.6
Persico, A.M.7
-
41
-
-
80052858901
-
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways
-
10.1371/journal.pone.0024691 21935439
-
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways. Ziats MN, Rennert OM, PLoS ONE 2011 6 24691 10.1371/journal.pone.0024691 21935439
-
(2011)
PLoS ONE
, vol.6
, pp. 524691
-
-
Ziats, M.N.1
Rennert, O.M.2
-
42
-
-
84860574059
-
Optimizing the phenotyping of rodent ASD models: Enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features
-
10.1186/2040-2392-3-1 22348382
-
Optimizing the phenotyping of rodent ASD models: Enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features. Buxbaum JD, Betancur C, Bozdagi O, Dorr NP, Elder GA, Hof PR, Mol Autism 2012 3 1 10.1186/2040-2392-3-1 22348382
-
(2012)
Mol Autism
, vol.3
, pp. 1
-
-
Buxbaum, J.D.1
Betancur, C.2
Bozdagi, O.3
Dorr, N.P.4
Elder, G.A.5
Hof, P.R.6
-
43
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
10.1016/j.tins.2004.04.009 15219735
-
The mGluR theory of fragile X mental retardation. Bear MF, Huber KM, Warren ST, Trends Neurosci 2004 27 370 377 10.1016/j.tins.2004.04.009 15219735
-
(2004)
Trends Neurosci
, vol.27
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
44
-
-
37049032616
-
Correction of fragile X syndrome in mice
-
10.1016/j.neuron.2007.12.001 18093519
-
Correction of fragile X syndrome in mice. Dölen G, Osterweil E, Rao BSS, Smith GB, Auerbach BD, Chattarji S, Bear MF, Neuron 2007 56 955 962 10.1016/j.neuron.2007.12.001 18093519
-
(2007)
Neuron
, vol.56
, pp. 955-962
-
-
Dölen, G.1
Osterweil, E.2
Rao, B.S.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
Bear, M.F.7
-
45
-
-
80053423590
-
Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses
-
10.1074/jbc.M111.258384 21795692
-
Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses. Verpelli C, Dvoretskova E, Vicidomini C, Rossi F, Chiappalone M, Schoen M, Di Stefano B, Mantegazza R, Broccoli V, Böckers TM, Dityatev A, Sala C, J Biol Chem 2011 286 34839 34850 10.1074/jbc.M111.258384 21795692
-
(2011)
J Biol Chem
, vol.286
, pp. 34839-34850
-
-
Verpelli, C.1
Dvoretskova, E.2
Vicidomini, C.3
Rossi, F.4
Chiappalone, M.5
Schoen, M.6
Di Stefano, B.7
Mantegazza, R.8
Broccoli, V.9
Böckers, T.M.10
Dityatev, A.11
Sala, C.12
-
46
-
-
79952071854
-
Synaptic organizing complexes
-
10.1016/j.conb.2010.08.016 20832286
-
Synaptic organizing complexes. Siddiqui TJ, Craig AM, Curr Opin Neurobiol 2011 21 132 143 10.1016/j.conb.2010.08.016 20832286
-
(2011)
Curr Opin Neurobiol
, vol.21
, pp. 132-143
-
-
Siddiqui, T.J.1
Craig, A.M.2
-
47
-
-
84855829221
-
Rare deletions at the neurexin 3 locus in autism spectrum disorder
-
10.1016/j.ajhg.2011.11.025 22209245
-
Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, Pinto D, Marshall CR, Stavropoulos DJ, Zwaigenbaum L, Fernandez BA, Fombonne E, Bolton PF, Collier DA, Hodge JC, Roberts W, Szatmari P, Scherer SW, Am J Hum Genet 2012 90 133 141 10.1016/j.ajhg.2011.11.025 22209245
-
(2012)
Am J Hum Genet
, vol.90
, pp. 133-141
-
-
Vaags, A.K.1
Lionel, A.C.2
Sato, D.3
Goodenberger, M.4
Stein, Q.P.5
Curran, S.6
Ogilvie, C.7
Ahn, J.W.8
Drmic, I.9
Senman, L.10
Chrysler, C.11
Thompson, A.12
Russell, C.13
Prasad, A.14
Walker, S.15
Pinto, D.16
Marshall, C.R.17
Stavropoulos, D.J.18
Zwaigenbaum, L.19
Fernandez, B.A.20
Fombonne, E.21
Bolton, P.F.22
Collier, D.A.23
Hodge, J.C.24
Roberts, W.25
Szatmari, P.26
Scherer, S.W.27
more..
-
48
-
-
77953725365
-
Trans-Synaptic Interaction of GluRδ2 and Neurexin through Cbln1 Mediates Synapse Formation in the Cerebellum
-
10.1016/j.cell.2010.04.035 20537373
-
Trans-Synaptic Interaction of GluRδ2 and Neurexin through Cbln1 Mediates Synapse Formation in the Cerebellum. Uemura T, Lee S-J, Yasumura M, Takeuchi T, Yoshida T, Ra M, Taguchi R, Sakimura K, Mishina M, Cell 2010 141 1068 1079 10.1016/j.cell.2010.04.035 20537373
-
(2010)
Cell
, vol.141
, pp. 1068-1079
-
-
Uemura, T.1
Lee, S.-J.2
Yasumura, M.3
Takeuchi, T.4
Yoshida, T.5
Ra, M.6
Taguchi, R.7
Sakimura, K.8
Mishina, M.9
-
49
-
-
84871384640
-
Molecular mechanism of parallel fiber-Purkinje cell synapse formation
-
23189042
-
Molecular mechanism of parallel fiber-Purkinje cell synapse formation. Mishina M, Uemura T, Yasumura M, Yoshida T, Front Neural Circuits 2012 6 90 23189042
-
(2012)
Front Neural Circuits
, vol.6
, pp. 90
-
-
Mishina, M.1
Uemura, T.2
Yasumura, M.3
Yoshida, T.4
-
50
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
10.1086/320609 11359211
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P, Am J Hum Genet 2001 68 1327 1332 10.1086/320609 11359211
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
51
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
10.1126/science.1227764 23160955
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J, Science 2012 338 1619 1622 10.1126/science.1227764 23160955
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
O'Roak, B.J.1
Vives, L.2
Fu, W.3
Egertson, J.D.4
Stanaway, I.B.5
Phelps, I.G.6
Carvill, G.7
Kumar, A.8
Lee, C.9
Ankenman, K.10
Munson, J.11
Hiatt, J.B.12
Turner, E.H.13
Levy, R.14
O'Day, D.R.15
Krumm, N.16
Coe, B.P.17
Martin, B.K.18
Borenstein, E.19
Nickerson, D.A.20
Mefford, H.C.21
Doherty, D.22
Akey, J.M.23
Bernier, R.24
Eichler, E.E.25
Shendure, J.26
more..
-
52
-
-
84873669275
-
SCN1A Mutation associated with intractable Myoclonic Epilepsy and Migraine Headache
-
10.1177/0883073812443309 22550089
-
SCN1A Mutation associated with intractable Myoclonic Epilepsy and Migraine Headache. Frosk P, Mhanni AA, Rafay MF, J Child Neurol 2013 28 389 391 10.1177/0883073812443309 22550089
-
(2013)
J Child Neurol
, vol.28
, pp. 389-391
-
-
Frosk, P.1
Mhanni, A.A.2
Rafay, M.F.3
-
53
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
10.1038/nn1754 16921370
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA, Nat Neurosci 2006 9 1142 1149 10.1038/nn1754 16921370
-
(2006)
Nat Neurosci
, vol.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
Kalume, F.5
Burton, K.A.6
Spain, W.J.7
McKnight, G.S.8
Scheuer, T.9
Catterall, W.A.10
-
54
-
-
62649142705
-
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
-
10.1073/pnas.0813330106 19234123
-
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA, Proc Natl Acad Sci USA 2009 106 3994 3999 10.1073/pnas.0813330106 19234123
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 3994-3999
-
-
Oakley, J.C.1
Kalume, F.2
Yu, F.H.3
Scheuer, T.4
Catterall, W.A.5
-
55
-
-
1642307576
-
Engrailed-2 negatively regulates the onset of perinatal Purkinje cell differentiation
-
10.1002/cne.20059 15024754
-
Engrailed-2 negatively regulates the onset of perinatal Purkinje cell differentiation. Jankowski J, Holst MI, Liebig C, Oberdick J, Baader SL, J Comp Neurol 2004 472 87 99 10.1002/cne.20059 15024754
-
(2004)
J Comp Neurol
, vol.472
, pp. 87-99
-
-
Jankowski, J.1
Holst, M.I.2
Liebig, C.3
Oberdick, J.4
Baader, S.L.5
-
56
-
-
0032031559
-
Ectopic overexpression of engrailed-2 in cerebellar Purkinje cells causes restricted cell loss and retarded external germinal layer development at lobule junctions
-
9465001
-
Ectopic overexpression of engrailed-2 in cerebellar Purkinje cells causes restricted cell loss and retarded external germinal layer development at lobule junctions. Baader SL, Sanlioglu S, Berrebi AS, Parker-Thornburg J, Oberdick J, J Neurosci 1998 18 1763 1773 9465001
-
(1998)
J Neurosci
, vol.18
, pp. 1763-1773
-
-
Baader, S.L.1
Sanlioglu, S.2
Berrebi, A.S.3
Parker-Thornburg, J.4
Oberdick, J.5
-
57
-
-
77955375508
-
Engrailed homeobox genes regulate establishment of the cerebellar afferent circuit map
-
10.1523/JNEUROSCI.0653-10.2010 20668186
-
Engrailed homeobox genes regulate establishment of the cerebellar afferent circuit map. Sillitoe RV, Vogel MW, Joyner AL, J Neurosci 2010 30 10015 10024 10.1523/JNEUROSCI.0653-10.2010 20668186
-
(2010)
J Neurosci
, vol.30
, pp. 10015-10024
-
-
Sillitoe, R.V.1
Vogel, M.W.2
Joyner, A.L.3
-
58
-
-
84868203852
-
Interneuron, interrupted: Molecular pathogenesis of ARX mutations and X-linked infantile spasms
-
10.1016/j.conb.2012.04.006 22565167
-
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Olivetti PR, Noebels JL, Curr Opin Neurobiol 2012 22 859 865 10.1016/j.conb.2012.04.006 22565167
-
(2012)
Curr Opin Neurobiol
, vol.22
, pp. 859-865
-
-
Olivetti, P.R.1
Noebels, J.L.2
-
59
-
-
84869092521
-
The impact of MeCP2 loss- or gain-of-function on synaptic plasticity
-
10.1038/npp.2012.116 22781840
-
The impact of MeCP2 loss- or gain-of-function on synaptic plasticity. Na ES, Nelson ED, Kavalali ET, Monteggia LM, Neuropsychopharmacology 2013 38 212 219 10.1038/npp.2012.116 22781840
-
(2013)
Neuropsychopharmacology
, vol.38
, pp. 212-219
-
-
Na, E.S.1
Nelson, E.D.2
Kavalali, E.T.3
Monteggia, L.M.4
-
60
-
-
47949092321
-
Engrailed-2 regulates genes related to vesicle formation and transport in cerebellar Purkinje cells
-
10.1016/j.mcn.2008.04.010 18562208
-
Engrailed-2 regulates genes related to vesicle formation and transport in cerebellar Purkinje cells. Holst MI, Maercker C, Pintea B, Masseroli M, Liebig C, Jankowski J, Miething A, Martini J, Schwaller B, Oberdick J, Schilling K, Baader SL, Mol Cell Neurosci 2008 38 495 504 10.1016/j.mcn.2008.04.010 18562208
-
(2008)
Mol Cell Neurosci
, vol.38
, pp. 495-504
-
-
Holst, M.I.1
Maercker, C.2
Pintea, B.3
Masseroli, M.4
Liebig, C.5
Jankowski, J.6
Miething, A.7
Martini, J.8
Schwaller, B.9
Oberdick, J.10
Schilling, K.11
Baader, S.L.12
|