-
1
-
-
79960969643
-
Links between genetics and pathophysiology in the autism spectrum disorders
-
Holt R, Monaco AP (2011) Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med 3(8):438-450.
-
(2011)
EMBO Mol Med
, vol.3
, Issue.8
, pp. 438-450
-
-
Holt, R.1
Monaco, A.P.2
-
2
-
-
82255192290
-
The conundrums of understanding genetic risks for autism spectrum disorders
-
State MW, Levitt P (2011) The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci 14(12):1499-1506.
-
(2011)
Nat Neurosci
, vol.14
, Issue.12
, pp. 1499-1506
-
-
State, M.W.1
Levitt, P.2
-
3
-
-
33746314832
-
Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues
-
Persico AM, Bourgeron T (2006) Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends Neurosci 29(7):349-358.
-
(2006)
Trends Neurosci
, vol.29
, Issue.7
, pp. 349-358
-
-
Persico, A.M.1
Bourgeron, T.2
-
4
-
-
84858077787
-
What does CNTNAP2 reveal about autism spectrum disorder
-
Peñagarikano O, Geschwind DH (2012) What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med 18(3):156-163
-
(2012)
Trends Mol Med
, vol.18
, Issue.3
, pp. 156-163
-
-
Peñagarikano, O.1
Geschwind, D.H.2
-
5
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
Friedman JI, et al. (2008) CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 13(3):261-266.
-
(2008)
Mol Psychiatry
, vol.13
, Issue.3
, pp. 261-266
-
-
Friedman, J.I.1
-
6
-
-
77956628767
-
Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
-
Mefford HC, et al. (2010) Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6(5):e1000962.
-
(2010)
PLoS Genet
, vol.6
, Issue.5
-
-
Mefford, H.C.1
-
7
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2
-
Strauss KA, et al. (2006) Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2. N Engl J Med 354(13):1370-1377.
-
(2006)
N Engl J Med
, vol.354
, Issue.13
, pp. 1370-1377
-
-
Strauss, K.A.1
-
8
-
-
34249722774
-
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
-
Belloso JM, et al. (2007) Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15(6): 711-713.
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.6
, pp. 711-713
-
-
Belloso, J.M.1
-
9
-
-
0038278610
-
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
-
Tourette Syndrome Association International Consortium for Genetics
-
Verkerk AJ, et al.; Tourette Syndrome Association International Consortium for Genetics (2003) CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82(1):1-9.
-
(2003)
Genomics
, vol.82
, Issue.1
, pp. 1-9
-
-
Verkerk, A.J.1
-
10
-
-
78549252909
-
Molecular pathways involved in neuronal cell-adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
-
O'Dushlaine C, et al. (2011) Molecular pathways involved in neuronal cell-adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry 16(3):286-292.
-
(2011)
Mol Psychiatry
, vol.16
, Issue.3
, pp. 286-292
-
-
O'Dushlaine, C.1
-
11
-
-
77952887857
-
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
-
Elia J, et al. (2010) Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15(6):637-646.
-
(2010)
Mol Psychiatry
, vol.15
, Issue.6
, pp. 637-646
-
-
Elia, J.1
-
12
-
-
72149095158
-
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt- Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
-
Zweier C, et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt- Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85(5):655-666.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.5
, pp. 655-666
-
-
Zweier, C.1
-
13
-
-
78649671271
-
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
-
Sehested LT, et al. (2010) Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 152A(12):3115-3119.
-
(2010)
Am J Med Genet A
, vol.152
, Issue.12 A
, pp. 3115-3119
-
-
Sehested, L.T.1
-
14
-
-
57149090343
-
A functional genetic link between distinct developmental language disorders
-
Vernes SC, et al. (2008) A functional genetic link between distinct developmental language disorders. N Engl J Med 359(22):2337-2345.
-
(2008)
N Engl J Med
, vol.359
, Issue.22
, pp. 2337-2345
-
-
Vernes, S.C.1
-
15
-
-
77957904400
-
Genetic advances in the study of speech and language disorders
-
Newbury DF, Monaco AP (2010) Genetic advances in the study of speech and language disorders. Neuron 68(2):309-320.
-
(2010)
Neuron
, vol.68
, Issue.2
, pp. 309-320
-
-
Newbury, D.F.1
Monaco, A.P.2
-
16
-
-
78649665537
-
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
-
Petrin AL, et al. (2010) Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 152A(12): 3164-3172.
-
(2010)
Am J Med Genet A
, vol.A152
, Issue.12
, pp. 3164-3172
-
-
Petrin, A.L.1
-
17
-
-
77956225035
-
Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
-
Tan GC, Doke TF, Ashburner J, Wood NW, Frackowiak RS (2010) Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Neuroimage 53(3):1030-1042.
-
(2010)
Neuroimage
, vol.53
, Issue.3
, pp. 1030-1042
-
-
Tan, G.C.1
Doke, T.F.2
Ashburner, J.3
Wood, N.W.4
Frackowiak, R.S.5
-
18
-
-
78149301263
-
Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
-
Scott-Van Zeeland AA, et al. (2010) Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med 2(56):56ra80.
-
(2010)
Sci Transl Med
, vol.2
, Issue.56
-
-
Scott-Van Zeeland, A.A.1
-
19
-
-
0033396331
-
Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
-
Poliak S, et al. (1999) Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24(4):1037-1047.
-
(1999)
Neuron
, vol.24
, Issue.4
, pp. 1037-1047
-
-
Poliak, S.1
-
20
-
-
54049091941
-
Neuroligins and neurexins link synaptic function to cognitive disease
-
Südhof TC (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455(7215):903-911.
-
(2008)
Nature
, vol.455
, Issue.7215
, pp. 903-911
-
-
Südhof, T.C.1
-
21
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders SJ, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70(5):863-885.
-
(2011)
Neuron
, vol.70
, Issue.5
, pp. 863-885
-
-
Sanders, S.J.1
-
22
-
-
38749084216
-
Disruption of neurexin 1 associated with autism spectrum disorder
-
Kim HG, et al. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82(1):199-207.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.1
, pp. 199-207
-
-
Kim, H.G.1
-
23
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy D, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70(5):886-897.
-
(2011)
Neuron
, vol.70
, Issue.5
, pp. 886-897
-
-
Levy, D.1
-
24
-
-
0033749676
-
Molecular domains of myelinated axons
-
Peles E, Salzer JL (2000) Molecular domains of myelinated axons. Curr Opin Neurobiol 10(5):558-565.
-
(2000)
Curr Opin Neurobiol
, vol.10
, Issue.5
, pp. 558-565
-
-
Peles, E.1
Salzer, J.L.2
-
25
-
-
0344444209
-
Transmembrane scaffolding proteins in the formation and stability of nodes of Ranvier
-
Girault JA, Oguievetskaia K, Carnaud M, Denisenko-Nehrbass N, Goutebroze L (2003) Transmembrane scaffolding proteins in the formation and stability of nodes of Ranvier. Biol Cell 95(7):447-452.
-
(2003)
Biol Cell
, vol.95
, Issue.7
, pp. 447-452
-
-
Girault, J.A.1
Oguievetskaia, K.2
Carnaud, M.3
Denisenko-Nehrbass, N.4
Goutebroze, L.5
-
26
-
-
80053540965
-
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
-
Peñagarikano O, et al. (2011) Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147(1):235-246.
-
(2011)
Cell
, vol.147
, Issue.1
, pp. 235-246
-
-
Peñagarikano, O.1
-
27
-
-
0141433266
-
Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
-
Poliak S, et al. (2003) Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol 162(6):1149-1160.
-
(2003)
J Cell Biol
, vol.162
, Issue.6
, pp. 1149-1160
-
-
Poliak, S.1
-
28
-
-
84863393541
-
Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission
-
Xu W, et al. (2012) Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission. Neuron 73(5):990-1001.
-
(2012)
Neuron
, vol.73
, Issue.5
, pp. 990-1001
-
-
Xu, W.1
-
29
-
-
78651509693
-
RIM proteins tether Ca2+ channels to presynaptic active zones via a direct PDZ-domain interaction
-
Kaeser PS, et al. (2011) RIM proteins tether Ca2+ channels to presynaptic active zones via a direct PDZ-domain interaction. Cell 144(2):282-295.
-
(2011)
Cell
, vol.144
, Issue.2
, pp. 282-295
-
-
Kaeser, P.S.1
-
30
-
-
0028061861
-
Synaptotagmin I: A major Ca2+ sensor for transmitter release at a central synapse
-
Geppert M, et al. (1994) Synaptotagmin I: A major Ca2+ sensor for transmitter release at a central synapse. Cell 79(4):717-727.
-
(1994)
Cell
, vol.79
, Issue.4
, pp. 717-727
-
-
Geppert, M.1
-
31
-
-
36048946374
-
Sez-6 proteins affect dendritic arborization patterns and excitability of cortical pyramidal neurons
-
Gunnersen JM, et al. (2007) Sez-6 proteins affect dendritic arborization patterns and excitability of cortical pyramidal neurons. Neuron 56(4):621-639.
-
(2007)
Neuron
, vol.56
, Issue.4
, pp. 621-639
-
-
Gunnersen, J.M.1
-
32
-
-
33747063840
-
Retraction of synapses and dendritic spines induced by off-target effects of RNA interference
-
Alvarez VA, Ridenour DA, Sabatini BL (2006) Retraction of synapses and dendritic spines induced by off-target effects of RNA interference. J Neurosci 26(30):7820-7825.
-
(2006)
J Neurosci
, vol.26
, Issue.30
, pp. 7820-7825
-
-
Alvarez, V.A.1
Ridenour, D.A.2
Sabatini, B.L.3
-
33
-
-
0031041601
-
Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions
-
Peles E, et al. (1997) Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. EMBO J 16(5):978-988.
-
(1997)
EMBO J
, vol.16
, Issue.5
, pp. 978-988
-
-
Peles, E.1
-
34
-
-
0031453392
-
The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination
-
Einheber S, et al. (1997) The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination. J Cell Biol 139(6):1495-1506.
-
(1997)
J Cell Biol
, vol.139
, Issue.6
, pp. 1495-1506
-
-
Einheber, S.1
-
35
-
-
0030772073
-
Paranodin, a glycoprotein of neuronal paranodal membranes
-
Menegoz M, et al. (1997) Paranodin, a glycoprotein of neuronal paranodal membranes. Neuron 19(2):319-331.
-
(1997)
Neuron
, vol.19
, Issue.2
, pp. 319-331
-
-
Menegoz, M.1
-
36
-
-
0141544999
-
Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers
-
Traka M, et al. (2003) Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. J Cell Biol 162(6): 1161-1172.
-
(2003)
J Cell Biol
, vol.162
, Issue.6
, pp. 1161-1172
-
-
Traka, M.1
-
37
-
-
33644527244
-
Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells
-
Inda MC, DeFelipe J, Muñoz A (2006) Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells. Proc Natl Acad Sci USA 103(8):2920-2925.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, Issue.8
, pp. 2920-2925
-
-
Inda, M.C.1
Defelipe, J.2
Muñoz, A.3
-
38
-
-
76849089459
-
Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B
-
Horresh I, Bar V, Kissil JL, Peles E (2010) Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B. J Neurosci 30(7): 2480-2489.
-
(2010)
J Neurosci
, vol.30
, Issue.7
, pp. 2480-2489
-
-
Horresh, I.1
Bar, V.2
Kissil, J.L.3
Peles, E.4
-
39
-
-
58149385771
-
Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons
-
Horresh I, et al. (2008) Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons. J Neurosci 28(52):14213-14222.
-
(2008)
J Neurosci
, vol.28
, Issue.52
, pp. 14213-14222
-
-
Horresh, I.1
-
40
-
-
0037022131
-
Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction
-
Charles P, et al. (2002) Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction. Curr Biol 12(3):217-220.
-
(2002)
Curr Biol
, vol.12
, Issue.3
, pp. 217-220
-
-
Charles, P.1
-
41
-
-
67650733293
-
Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper
-
Stork T, et al. (2009) Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper. Development 136(8):1251-1261.
-
(2009)
Development
, vol.136
, Issue.8
, pp. 1251-1261
-
-
Stork, T.1
-
42
-
-
77951576522
-
Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance
-
Banerjee S, et al. (2010) Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance. J Neurosci 30(16):5653-5667.
-
(2010)
J Neurosci
, vol.30
, Issue.16
, pp. 5653-5667
-
-
Banerjee, S.1
-
43
-
-
0029096048
-
The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin
-
Peles E, et al. (1995) The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin. Cell 82(2):251-260.
-
(1995)
Cell
, vol.82
, Issue.2
, pp. 251-260
-
-
Peles, E.1
-
44
-
-
0029896991
-
TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/protein-tyrosine phosphatase-zeta/beta, and N-CAM
-
Milev P, Maurel P, Häring M, Margolis RK, Margolis RU (1996) TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/protein- tyrosine phosphatase-zeta/beta, and N-CAM. J Biol Chem 271(26):15716-15723.
-
(1996)
J Biol Chem
, vol.271
, Issue.26
, pp. 15716-15723
-
-
Milev, P.1
Maurel, P.2
Häring, M.3
Margolis, R.K.4
Margolis, R.U.5
-
45
-
-
0033571032
-
Protein tyrosine phosphatase alpha (PTPalpha) and contactin form a novel neuronal receptor complex linked to the intracellular tyrosine kinase fyn
-
Zeng L, D'Alessandri L, Kalousek MB, Vaughan L, Pallen CJ (1999) Protein tyrosine phosphatase alpha (PTPalpha) and contactin form a novel neuronal receptor complex linked to the intracellular tyrosine kinase fyn. J Cell Biol 147(4):707-714.
-
(1999)
J Cell Biol
, vol.147
, Issue.4
, pp. 707-714
-
-
Zeng, L.1
D'Alessandri, L.2
Kalousek, M.B.3
Vaughan, L.4
Pallen, C.J.5
|