-
1
-
-
33746314832
-
Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues
-
10.1016/j.tins.2006.05.010 16808981
-
Persico AM Bourgeron T Searching for ways out of the autism maze: genetic, epigenetic and environmental clues Trends Neurosci 2006, 29:349-358. 10.1016/j.tins.2006.05.010 16808981
-
(2006)
Trends Neurosci
, vol.29
, pp. 349-358
-
-
Persico, A.M.1
Bourgeron, T.2
-
2
-
-
42349095075
-
Advances in autism genetics: On the threshold of a new neurobiology
-
10.1038/nrg2346 18414403
-
Abrahams BS Geschwind DH Advances in autism genetics: On the threshold of a new neurobiology Nat Rev Genet 2008, 9:341-355. 10.1038/nrg2346 18414403
-
(2008)
Nat Rev Genet
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
3
-
-
34447527654
-
Neuroscience. Autism's cause may reside in abnormalities at the synapse
-
10.1126/science.317.5835.190 17626859
-
Garber K Neuroscience. Autism's cause may reside in abnormalities at the synapse Science 2007, 317:190-191. 10.1126/science.317.5835.190 17626859
-
(2007)
Science
, vol.317
, pp. 190-191
-
-
Garber, K.1
-
4
-
-
0036467761
-
Molecular morphogens for dendritic spines
-
10.1016/S0166-2236(02)02061-1 11814549
-
Ehlers MD Molecular morphogens for dendritic spines Trends Neurosci 2002, 25:64-67. 10.1016/S0166-2236(02)02061-1 11814549
-
(2002)
Trends Neurosci
, vol.25
, pp. 64-67
-
-
Ehlers, M.D.1
-
5
-
-
0034044563
-
The Shank family of scaffold proteins
-
10806096
-
Sheng M Kim E The Shank family of scaffold proteins J Cell Sci 2000, 113(Pt 11):1851-1856. 10806096
-
(2000)
J Cell Sci
, vol.113
, Issue.PART 11
, pp. 1851-1856
-
-
Sheng, M.1
Kim, E.2
-
6
-
-
0032830935
-
Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development
-
10.1074/jbc.274.41.29510 10506216
-
Lim S Naisbitt S Yoon J Hwang JI Suh PG Sheng M Kim E Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development J Biol Chem 1999, 274:29510-29518. 10.1074/jbc.274.41.29510 10506216
-
(1999)
J Biol Chem
, vol.274
, pp. 29510-29518
-
-
Lim, S.1
Naisbitt, S.2
Yoon, J.3
Hwang, J.I.4
Suh, P.G.5
Sheng, M.6
Kim, E.7
-
7
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
1235301 11431708 10.1086/321293
-
Bonaglia MC Giorda R Borgatti R Felisari G Gagliardi C Selicorni A Zuffardi O Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome Am J Hum Genet 2001, 69:261-268. 1235301 11431708 10.1086/321293
-
(2001)
Am J Hum Genet
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
Felisari, G.4
Gagliardi, C.5
Selicorni, A.6
Zuffardi, O.7
-
8
-
-
0036316727
-
ProSAP/Shank proteins - A family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease
-
10.1046/j.1471-4159.2002.00931.x 12065602
-
Boeckers TM Bockmann J Kreutz MR Gundelfinger ED ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease J Neurochem 2002, 81:903-910. 10.1046/j.1471-4159.2002.00931.x 12065602
-
(2002)
J Neurochem
, vol.81
, pp. 903-910
-
-
Boeckers, T.M.1
Bockmann, J.2
Kreutz, M.R.3
Gundelfinger, E.D.4
-
9
-
-
0033581830
-
Synapse structure: Glutamate receptors connected by the shanks
-
10.1016/S0960-9822(00)80043-3 10574750
-
Ehlers MD Synapse structure: Glutamate receptors connected by the shanks Curr Biol 1999, 9:R848-850. 10.1016/S0960-9822(00)80043-3 10574750
-
(1999)
Curr Biol
, vol.9
-
-
Ehlers, M.D.1
-
10
-
-
17044378032
-
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons
-
10.1523/JNEUROSCI.4354-04.2005 15814786
-
Roussignol G Ango F Romorini S Tu JC Sala C Worley PF Bockaert J Fagni L Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons J Neurosci 2005, 25:3560-3570. 10.1523/ JNEUROSCI.4354-04.2005 15814786
-
(2005)
J Neurosci
, vol.25
, pp. 3560-3570
-
-
Roussignol, G.1
Ango, F.2
Romorini, S.3
Tu, J.C.4
Sala, C.5
Worley, P.F.6
Bockaert, J.7
Fagni, L.8
-
11
-
-
0242300623
-
Postnatal neurodevelopmental disorders: Meeting at the synapse?
-
10.1126/science.1089071 14593168
-
Zoghbi HY Postnatal neurodevelopmental disorders: Meeting at the synapse? Science 2003, 302:826-830. 10.1126/science.1089071 14593168
-
(2003)
Science
, vol.302
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
12
-
-
33748531328
-
Neuroligins determine synapse maturation and function
-
10.1016/j.neuron.2006.09.003 16982420
-
Varoqueaux F Aramuni G Rawson RL Mohrmann R Missler M Gottmann K Zhang W Sudhof TC Brose N Neuroligins determine synapse maturation and function Neuron 2006, 51:741-754. 10.1016/j.neuron.2006.09.003 16982420
-
(2006)
Neuron
, vol.51
, pp. 741-754
-
-
Varoqueaux, F.1
Aramuni, G.2
Rawson, R.L.3
Mohrmann, R.4
Missler, M.5
Gottmann, K.6
Zhang, W.7
Sudhof, T.C.8
Brose, N.9
-
13
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
1925054 12669065 10.1038/ng1136
-
Jamain S Quach H Betancur C Rastam M Colineaux C Gillberg IC Soderstrom H Giros B Leboyer M Gillberg C et al Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism Nat Genet 2003, 34:27-29. 1925054 12669065 10.1038/ng1136
-
(2003)
Nat Genet
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
-
14
-
-
35148858044
-
A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
-
10.1126/science.1146221 17823315
-
Tabuchi K Blundell J Etherton MR Hammer RE Liu X Powell CM Sudhof TC A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice Science 2007, 318:71-76. 10.1126/science.1146221 17823315
-
(2007)
Science
, vol.318
, pp. 71-76
-
-
Tabuchi, K.1
Blundell, J.2
Etherton, M.R.3
Hammer, R.E.4
Liu, X.5
Powell, C.M.6
Sudhof, T.C.7
-
15
-
-
40349096250
-
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
-
2234209 18227507 10.1073/pnas.0711555105
-
Jamain S Radyushkin K Hammerschmidt K Granon S Boretius S Varoqueaux F Ramanantsoa N Gallego J Ronnenberg A Winter D et al Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism Proc Natl Acad Sci USA 2008, 105:1710-1715. 2234209 18227507 10.1073/pnas.0711555105
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 1710-1715
-
-
Jamain, S.1
Radyushkin, K.2
Hammerschmidt, K.3
Granon, S.4
Boretius, S.5
Varoqueaux, F.6
Ramanantsoa, N.7
Gallego, J.8
Ronnenberg, A.9
Winter, D.10
-
16
-
-
5344247263
-
The complexity of PDZ domain-mediated interactions at glutamatergic synapses: A case study on neuroligin
-
10.1016/j.neuropharm.2004.06.023 15458844
-
Meyer G Varoqueaux F Neeb A Oschlies M Brose N The complexity of PDZ domain-mediated interactions at glutamatergic synapses: A case study on neuroligin Neuropharmacology 2004, 47:724-733. 10.1016/ j.neuropharm.2004.06.023 15458844
-
(2004)
Neuropharmacology
, vol.47
, pp. 724-733
-
-
Meyer, G.1
Varoqueaux, F.2
Neeb, A.3
Oschlies, M.4
Brose, N.5
-
17
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
2082049 17173049 10.1038/ng1933
-
Durand CM Betancur C Boeckers TM Bockmann J Chaste P Fauchereau F Nygren G Rastam M Gillberg IC Anckarsater H et al Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders Nat Genet 2007, 39:25-27. 2082049 17173049 10.1038/ng1933
-
(2007)
Nat Genet
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
Bockmann, J.4
Chaste, P.5
Fauchereau, F.6
Nygren, G.7
Rastam, M.8
Gillberg, I.C.9
Anckarsater, H.10
-
18
-
-
36749040875
-
Contribution of SHANK3 mutations to autism spectrum disorder
-
2276348 17999366 10.1086/522590
-
Moessner R Marshall CR Sutcliffe JS Skaug J Pinto D Vincent J Zwaigenbaum L Fernandez B Roberts W Szatmari P et al Contribution of SHANK3 mutations to autism spectrum disorder Am J Hum Genet 2007, 81:1289-1297. 2276348 17999366 10.1086/522590
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1289-1297
-
-
Moessner, R.1
Marshall, C.R.2
Sutcliffe, J.S.3
Skaug, J.4
Pinto, D.5
Vincent, J.6
Zwaigenbaum, L.7
Fernandez, B.8
Roberts, W.9
Szatmari, P.10
-
19
-
-
63449111560
-
Novel de novo SHANK3 mutation in autistic patients
-
150B930
-
Gauthier J Spiegelman D Piton A Lafreniere RG Laurent S St-Onge J Lapointe L Hamdan FF Cossette P Mottron L et al Novel de novo SHANK3 mutation in autistic patients Am J Med Genet B Neuropsychiatr Genet 2009, 150B930:421-4.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, pp. 421-424
-
-
Gauthier, J.1
Spiegelman, D.2
Piton, A.3
Lafreniere, R.G.4
Laurent, S.5
St-Onge, J.6
Lapointe, L.7
Hamdan, F.F.8
Cossette, P.9
Mottron, L.10
-
20
-
-
0018854085
-
Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)
-
10.1007/BF02408436 6927682
-
Schopler E Reichler RJ DeVellis RF Daly K Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS) J Autism Dev Disord 1980, 10:91-103. 10.1007/BF02408436 6927682
-
(1980)
J Autism Dev Disord
, vol.10
, pp. 91-103
-
-
Schopler, E.1
Reichler, R.J.2
DeVellis, R.F.3
Daly, K.4
-
21
-
-
0018944406
-
Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior
-
10.1111/j.1469-7610.1980.tb01797.x 7430288
-
Krug DA Arick J Almond P Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior J Child Psychol Psychiatry 1980, 21:221-229. 10.1111/j.1469-7610.1980.tb01797.x 7430288
-
(1980)
J Child Psychol Psychiatry
, vol.21
, pp. 221-229
-
-
Krug, D.A.1
Arick, J.2
Almond, P.3
-
22
-
-
0034054165
-
A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information
-
10.1159/000022918 10782012
-
Rabinowitz D Laird N A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information Hum Hered 2000, 50:211-223. 10.1159/000022918 10782012
-
(2000)
Hum Hered
, vol.50
, pp. 211-223
-
-
Rabinowitz, D.1
Laird, N.2
-
23
-
-
0033166537
-
Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins
-
10.1016/S0896-6273(00)80810-7 10433269
-
Tu JC Xiao B Naisbitt S Yuan JP Petralia RS Brakeman P Doan A Aakalu VK Lanahan AA Sheng M et al Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins Neuron 1999, 23:583-592. 10.1016/S0896-6273(00)80810-7 10433269
-
(1999)
Neuron
, vol.23
, pp. 583-592
-
-
Tu, J.C.1
Xiao, B.2
Naisbitt, S.3
Yuan, J.P.4
Petralia, R.S.5
Brakeman, P.6
Doan, A.7
Aakalu, V.K.8
Lanahan, A.A.9
Sheng, M.10
-
24
-
-
0033165926
-
Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin
-
10.1016/S0896-6273(00)80809-0 10433268
-
Naisbitt S Kim E Tu JC Xiao B Sala C Valtschanoff J Weinberg RJ Worley PF Sheng M Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin Neuron 1999, 23:569-582. 10.1016/S0896-6273(00)80809-0 10433268
-
(1999)
Neuron
, vol.23
, pp. 569-582
-
-
Naisbitt, S.1
Kim, E.2
Tu, J.C.3
Xiao, B.4
Sala, C.5
Valtschanoff, J.6
Weinberg, R.J.7
Worley, P.F.8
Sheng, M.9
-
25
-
-
1542620777
-
Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family
-
10.1523/JNEUROSCI.5479-03.2004 15014124
-
Qualmann B Boeckers TM Jeromin M Gundelfinger ED Kessels MM Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family J Neurosci 2004, 24:2481-2495. 10.1523/JNEUROSCI.5479-03.2004 15014124
-
(2004)
J Neurosci
, vol.24
, pp. 2481-2495
-
-
Qualmann, B.1
Boeckers, T.M.2
Jeromin, M.3
Gundelfinger, E.D.4
Kessels, M.M.5
-
26
-
-
33947107564
-
Abelson interacting protein 1 (Abi-1) is essential for dendrite morphogenesis and synapse formation
-
1817621 17304222 10.1038/sj.emboj.7601569
-
Proepper C Johannsen S Liebau S Dahl J Vaida B Bockmann J Kreutz MR Gundelfinger ED Boeckers TM Abelson interacting protein 1 (Abi-1) is essential for dendrite morphogenesis and synapse formation Embo J 2007, 26:1397-1409. 1817621 17304222 10.1038/sj.emboj.7601569
-
(2007)
Embo J
, vol.26
, pp. 1397-1409
-
-
Proepper, C.1
Johannsen, S.2
Liebau, S.3
Dahl, J.4
Vaida, B.5
Bockmann, J.6
Kreutz, M.R.7
Gundelfinger, E.D.8
Boeckers, T.M.9
-
27
-
-
13244272115
-
C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1/Shank2 and ProSAP2/Shank3
-
10.1111/j.1471-4159.2004.02910.x 15659222
-
Boeckers TM Liedtke T Spilker C Dresbach T Bockmann J Kreutz MR Gundelfinger ED C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1/Shank2 and ProSAP2/Shank3 J Neurochem 2005, 92:519-524. 10.1111/j.1471-4159.2004.02910.x 15659222
-
(2005)
J Neurochem
, vol.92
, pp. 519-524
-
-
Boeckers, T.M.1
Liedtke, T.2
Spilker, C.3
Dresbach, T.4
Bockmann, J.5
Kreutz, M.R.6
Gundelfinger, E.D.7
-
28
-
-
31544482776
-
An architectural framework that may lie at the core of the postsynaptic density
-
10.1126/science.1118995 16439662
-
Baron MK Boeckers TM Vaida B Faham S Gingery M Sawaya MR Salyer D Gundelfinger ED Bowie JU An architectural framework that may lie at the core of the postsynaptic density Science 2006, 311:531-535. 10.1126/ science.1118995 16439662
-
(2006)
Science
, vol.311
, pp. 531-535
-
-
Baron, M.K.1
Boeckers, T.M.2
Vaida, B.3
Faham, S.4
Gingery, M.5
Sawaya, M.R.6
Salyer, D.7
Gundelfinger, E.D.8
Bowie, J.U.9
-
29
-
-
45149128206
-
No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level
-
10.1002/ajmg.b.30618 18189281
-
Wermter AK Kamp-Becker I Strauch K Schulte-Korne G Remschmidt H No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level Am J Med Genet B Neuropsychiatr Genet 2008, 147B:535-537. 10.1002/ajmg.b.30618 18189281
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 535-537
-
-
Wermter, A.K.1
Kamp-Becker, I.2
Strauch, K.3
Schulte-Korne, G.4
Remschmidt, H.5
-
30
-
-
0042828948
-
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
-
1735560 12920066 10.1136/jmg.40.8.575
-
Wilson HL Wong AC Shaw SR Tse WY Stapleton GA Phelan MC Hu S Marshall J McDermid HE Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms J Med Genet 2003, 40:575-584. 1735560 12920066 10.1136/jmg.40.8.575
-
(2003)
J Med Genet
, vol.40
, pp. 575-584
-
-
Wilson, H.L.1
Wong, A.C.2
Shaw, S.R.3
Tse, W.Y.4
Stapleton, G.A.5
Phelan, M.C.6
Hu, S.7
Marshall, J.8
McDermid, H.E.9
-
31
-
-
54549096891
-
Interstitial 22q13 deletions: Genes other than SHANK3 have major effects on cognitive and language development
-
10.1038/ejhg.2008.107 18523453
-
Wilson HL Crolla JA Walker D Artifoni L Dallapiccola B Takano T Vasudevan P Huang S Maloney V Yobb T et al Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development Eur J Hum Genet 2008, 16:1301-1310. 10.1038/ejhg.2008.107 18523453
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1301-1310
-
-
Wilson, H.L.1
Crolla, J.A.2
Walker, D.3
Artifoni, L.4
Dallapiccola, B.5
Takano, T.6
Vasudevan, P.7
Huang, S.8
Maloney, V.9
Yobb, T.10
-
32
-
-
70349610083
-
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
-
19384346
-
Sykes NH Toma C Wilson N Volpi EV Sousa I Pagnamenta AT Tancredi R Battaglia A Maestrini E Bailey AJ et al Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection Eur J Hum Genet 2009. 19384346
-
(2009)
Eur J Hum Genet
-
-
Sykes, N.H.1
Toma, C.2
Wilson, N.3
Volpi, E.V.4
Sousa, I.5
Pagnamenta, A.T.6
Tancredi, R.7
Battaglia, A.8
Maestrini, E.9
Bailey, A.J.10
|