-
1
-
-
82255192290
-
The conundrums of understanding genetic risks for autism spectrum disorders
-
State MW, Levitt P. The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci. 2011;14 (12) :1499-1506.
-
(2011)
Nat Neurosci
, vol.14
, Issue.12
, pp. 1499-1506
-
-
State, M.W.1
Levitt, P.2
-
2
-
-
84858434210
-
CNVs: Harbingers of a rare variant revolution in psychiatric genetics
-
Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012;148 (6) :1223-1241.
-
(2012)
Cell
, vol.148
, Issue.6
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
4
-
-
84862493260
-
Genetic architecture in autism spectrum disorder
-
Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012;22 (3) :229-237.
-
(2012)
Curr Opin Genet Dev
, vol.22
, Issue.3
, pp. 229-237
-
-
Devlin, B.1
Scherer, S.W.2
-
5
-
-
84863980709
-
Genetic architectures of psychiatric disorders: The emerging picture and its implications
-
Sullivan PF, Daly MJ, ODonovan M. Genetic architectures of psychiatric disorders: The emerging picture and its implications. Nat Rev Genet. 2012;13 (8) :537-551.
-
(2012)
Nat Rev Genet
, vol.13
, Issue.8
, pp. 537-551
-
-
Sullivan, P.F.1
Daly, M.J.2
Odonovan, M.3
-
6
-
-
84864542080
-
Drug screening for ALS using patient-specific induced pluripotent stem cells
-
Egawa N, et al. Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med. 2012;4 (145) :145ra104.
-
(2012)
Sci Transl Med
, vol.4
, Issue.145
, pp. 145ra104
-
-
Egawa, N.1
-
7
-
-
50149098605
-
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
-
Dimos JT, et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008;321 (5893) :1218-1221.
-
(2008)
Science
, vol.321
, Issue.5893
, pp. 1218-1221
-
-
Dimos, J.T.1
-
8
-
-
52649173218
-
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders
-
Chamberlain SJ, Li XJ, Lalande M. Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders. Neurogenetics. 2008;9 (4) :227-235.
-
(2008)
Neurogenetics
, vol.9
, Issue.4
, pp. 227-235
-
-
Chamberlain, S.J.1
Li, X.J.2
Lalande, M.3
-
9
-
-
77957670482
-
Differentiated Parkinson patientderived induced pluripotent stem cells grow in the adult rodent brain and reduce motor asymmetry in Parkinsonian rats
-
Hargus G, et al. Differentiated Parkinson patientderived induced pluripotent stem cells grow in the adult rodent brain and reduce motor asymmetry in Parkinsonian rats. Proc Natl Acad Sci U S A. 2010;107 (36) :15921-15926.
-
(2011)
Proc Natl Acad Sci U S A
, vol.107
, Issue.36
, pp. 15921-15926
-
-
Hargus, G.1
-
10
-
-
79960833952
-
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
-
Soldner F, et al. Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell. 2011;146 (2) :318-331.
-
(2011)
Cell
, vol.146
, Issue.2
, pp. 318-331
-
-
Soldner, F.1
-
11
-
-
79955884485
-
Modelling schizophrenia using human induced pluripotent stem cells
-
Brennand KJ, et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature. 2011;473 (7346) :221-225.
-
(2011)
Nature
, vol.473
, Issue.7346
, pp. 221-225
-
-
Brennand, K.J.1
-
12
-
-
84863229339
-
A human stem cell model of early Alzheimers disease pathology in Down syndrome
-
Shi Y, Kirwan P, Smith J, MacLean G, Orkin SH, Livesey FJ. A human stem cell model of early Alzheimers disease pathology in Down syndrome. Sci Transl Med. 2012;4 (124) :124ra129.
-
(2012)
Sci Transl Med
, vol.4
, Issue.124
, pp. 124ra129
-
-
Shi, Y.1
Kirwan, P.2
Smith, J.3
Maclean, G.4
Orkin, S.H.5
Livesey, F.J.6
-
13
-
-
84890115517
-
Isogenic human iPSC Parkinsons model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription
-
Ryan SD, et al. Isogenic human iPSC Parkinsons model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription. Cell. 2013;155 (6) :1351-1364.
-
(2013)
Cell
, vol.155
, Issue.6
, pp. 1351-1364
-
-
Ryan, S.D.1
-
14
-
-
84887627330
-
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
-
Shcheglovitov A, et al. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature. 2013;503 (7475) :267-271.
-
(2013)
Nature
, vol.503
, Issue.7475
, pp. 267-271
-
-
Shcheglovitov, A.1
-
16
-
-
84892789989
-
Increased l1 retrotransposition in the neuronal genome in schizophrenia
-
Bundo M, et al. Increased l1 retrotransposition in the neuronal genome in schizophrenia. Neuron. 2014;81 (2) :306-313.
-
(2014)
Neuron
, vol.81
, Issue.2
, pp. 306-313
-
-
Bundo, M.1
-
17
-
-
84924721164
-
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
-
Brennand K, et al. Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia. Mol Psychiatry. 2015;20 (3) :361-368.
-
(2015)
Mol Psychiatry
, vol.20
, Issue.3
, pp. 361-368
-
-
Brennand, K.1
-
18
-
-
84906492333
-
Your brain under the microscope: The promise of stem cells
-
Marchetto MC, Gage FH. Your brain under the microscope: The promise of stem cells. Cerebrum. 2014;2014:1.
-
(2014)
Cerebrum
, vol.2014
, pp. 1
-
-
Marchetto, M.C.1
Gage, F.H.2
-
19
-
-
84870156157
-
Medicine. IPSC disease modeling
-
Soldner F, Jaenisch R. Medicine. iPSC disease modeling. Science. 2012;338 (6111) :1155-1156.
-
(2012)
Science
, vol.338
, Issue.6111
, pp. 1155-1156
-
-
Soldner, F.1
Jaenisch, R.2
-
20
-
-
44349096827
-
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
-
Saitsu H, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40 (6) :782-788.
-
(2008)
Nat Genet
, vol.40
, Issue.6
, pp. 782-788
-
-
Saitsu, H.1
-
21
-
-
84874615629
-
Haploinsufficiency of STXBP1 and Ohtahara syndrome
-
In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds4th ed. Bethesda, Maryland, USA
-
Saitsu H, Kato M, Matsumoto N. Haploinsufficiency of STXBP1 and Ohtahara syndrome. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jaspers Basic Mechanisms of the Epilepsies. 4th ed. Bethesda, Maryland, USA: 2012.
-
(2012)
Jaspers Basic Mechanisms of the Epilepsies
-
-
Saitsu, H.1
Kato, M.2
Matsumoto, N.3
-
22
-
-
84861191703
-
Ohtahara syndrome with emphasis on recent genetic discovery
-
Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev. 2012;34 (6) :459-468.
-
(2012)
Brain Dev
, vol.34
, Issue.6
, pp. 459-468
-
-
Pavone, P.1
Spalice, A.2
Polizzi, A.3
Parisi, P.4
Ruggieri, M.5
-
23
-
-
80053563169
-
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
-
Milh M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia. 2011;52 (10) :1828-1834.
-
(2011)
Epilepsia
, vol.52
, Issue.10
, pp. 1828-1834
-
-
Milh, M.1
-
24
-
-
79955785104
-
Intellectual disability without epilepsy associated with STXBP1 disruption
-
Hamdan FF, et al. Intellectual disability without epilepsy associated with STXBP1 disruption. Eur J Hum Genet. 2011;19 (5) :607-609.
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.5
, pp. 607-609
-
-
Hamdan, F.F.1
-
25
-
-
80053564430
-
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
-
Mignot C, et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia. 2011;52 (10) :1820-1827.
-
(2011)
Epilepsia
, vol.52
, Issue.10
, pp. 1820-1827
-
-
Mignot, C.1
-
26
-
-
84890884015
-
Tethering the assembly of SNARE complexes
-
Hong W, Lev S. Tethering the assembly of SNARE complexes. Trends Cell Biol. 2014;24 (1) :35-43.
-
(2014)
Trends Cell Biol
, vol.24
, Issue.1
, pp. 35-43
-
-
Hong, W.1
Lev, S.2
-
27
-
-
84870232182
-
The membrane fusion enigma: SNAREs, Sec1/Munc18 proteins, and their accomplices-guilty as charged?
-
Rizo J, Sudhof TC. The membrane fusion enigma: SNAREs, Sec1/Munc18 proteins, and their accomplices-guilty as charged? Annu Rev Cell Dev Biol. 2012;28:279-308.
-
(2012)
Annu Rev Cell Dev Biol
, vol.28
, pp. 279-308
-
-
Rizo, J.1
Sudhof, T.C.2
-
28
-
-
84941691152
-
Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in
-
In press
-
Pak CH, et al. Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1. Cell Stem Cell. In press.
-
NRXN1. Cell Stem Cell
-
-
Pak, C.H.1
-
29
-
-
84878849645
-
Rapid single-step induction of functional neurons from human pluripotent stem cells
-
Zhang Y, et al. Rapid single-step induction of functional neurons from human pluripotent stem cells. Neuron. 2013;78 (5) :785-798.
-
(2013)
Neuron
, vol.78
, Issue.5
, pp. 785-798
-
-
Zhang, Y.1
-
30
-
-
79960854285
-
Induction of human neuronal cells by defined transcription factors
-
Pang ZP, et al. Induction of human neuronal cells by defined transcription factors. Nature. 2011;476 (7359) :220-223.
-
(2011)
Nature
, vol.476
, Issue.7359
, pp. 220-223
-
-
Pang, Z.P.1
-
31
-
-
0034603030
-
Synaptic assembly of the brain in the absence of neurotransmitter secretion
-
Verhage M, et al. Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science. 2000;287 (5454) :864-869.
-
(2000)
Science
, vol.287
, Issue.5454
, pp. 864-869
-
-
Verhage, M.1
-
32
-
-
20744443000
-
Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation
-
Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M. Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation. J Neurochem. 2005;93 (6) :1393-1400.
-
(2005)
J Neurochem
, vol.93
, Issue.6
, pp. 1393-1400
-
-
Toonen, R.F.1
De Vries, K.J.2
Zalm, R.3
Sudhof, T.C.4
Verhage, M.5
-
33
-
-
51749100843
-
Conformational switch of syntaxin-1 controls synaptic vesicle fusion
-
Gerber SH, et al. Conformational switch of syntaxin-1 controls synaptic vesicle fusion. Science. 2008;321 (5895) :1507-1510.
-
(2008)
Science
, vol.321
, Issue.5895
, pp. 1507-1510
-
-
Gerber, S.H.1
-
34
-
-
84885860678
-
Lipidanchored SNAREs lacking transmembrane regions fully support membrane fusion during neurotransmitter release
-
Zhou P, Bacaj T, Yang X, Pang ZP, Sudhof TC. Lipidanchored SNAREs lacking transmembrane regions fully support membrane fusion during neurotransmitter release. Neuron. 2013;80 (2) :470-483.
-
(2013)
Neuron
, vol.80
, Issue.2
, pp. 470-483
-
-
Zhou, P.1
Bacaj, T.2
Yang, X.3
Pang, Z.P.4
Sudhof, T.C.5
-
35
-
-
0030175394
-
Definition of the readily releasable pool of vesicles at hippocampal synapses
-
Rosenmund C, Stevens CF. Definition of the readily releasable pool of vesicles at hippocampal synapses. Neuron. 1996;16 (6) :1197-1207.
-
(1996)
Neuron
, vol.16
, Issue.6
, pp. 1197-1207
-
-
Rosenmund, C.1
Stevens, C.F.2
-
36
-
-
65549100187
-
Characterization of engineered channelrhodopsin variants with improved properties and kinetics
-
Lin JY, Lin MZ, Steinbach P, Tsien RY. Characterization of engineered channelrhodopsin variants with improved properties and kinetics. Biophys J. 2009;96 (5) :1803-1814.
-
(2009)
Biophys J
, vol.96
, Issue.5
, pp. 1803-1814
-
-
Lin, J.Y.1
Lin, M.Z.2
Steinbach, P.3
Tsien, R.Y.4
-
37
-
-
84890280758
-
Munc18-1 haploinsufficiency results in enhanced anxiety-like behavior as determined by heart rate responses in mice
-
Hager T, Maroteaux G, Pont P, Julsing J, van Vliet R, Stiedl O. Munc18-1 haploinsufficiency results in enhanced anxiety-like behavior as determined by heart rate responses in mice. Behav Brain Res. 2014;260:44-52.
-
(2014)
Behav Brain Res
, vol.260
, pp. 44-52
-
-
Hager, T.1
Maroteaux, G.2
Pont, P.3
Julsing, J.4
Van Vliet, R.5
Stiedl, O.6
-
38
-
-
33845348602
-
Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size
-
Toonen RF, et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci U S A. 2006;103 (48) :18332-18337.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, Issue.48
, pp. 18332-18337
-
-
Toonen, R.F.1
-
39
-
-
64749107397
-
Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming
-
Deak F, et al. Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming. J Cell Biol. 2009;184 (5) :751-764.
-
(2009)
J Cell Biol
, vol.184
, Issue.5
, pp. 751-764
-
-
Deak, F.1
-
40
-
-
44949131860
-
In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-Associated viruses
-
Grimm D, et al. In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-Associated viruses. J Virol. 2008;82 (12) :5887-5911.
-
(2008)
J Virol
, vol.82
, Issue.12
, pp. 5887-5911
-
-
Grimm, D.1
-
41
-
-
0031760589
-
CNS glia are targets for GDNF and neurturin
-
Franke B, Figiel M, Engele J. CNS glia are targets for GDNF and neurturin. Histochem Cell Biol. 1998;110 (6) :595-601.
-
(1998)
Histochem Cell Biol
, vol.110
, Issue.6
, pp. 595-601
-
-
Franke, B.1
Figiel, M.2
Engele, J.3
-
42
-
-
0029024135
-
Essential functions of synapsins i and II in synaptic vesicle regulation
-
Rosahl TW, et al. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature. 1995;375 (6531) :488-493.
-
(1995)
Nature
, vol.375
, Issue.6531
, pp. 488-493
-
-
Rosahl, T.W.1
-
43
-
-
84868121906
-
Candidate autism gene screen identifies critical role for cell-Adhesion molecule CASPR2 in dendritic arborization and spine development
-
Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Sudhof TC. Candidate autism gene screen identifies critical role for cell-Adhesion molecule CASPR2 in dendritic arborization and spine development. Proc Natl Acad Sci U S A. 2012;109 (44) :18120-18125.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, Issue.44
, pp. 18120-18125
-
-
Anderson, G.R.1
Galfin, T.2
Xu, W.3
Aoto, J.4
Malenka, R.C.5
Sudhof, T.C.6
-
44
-
-
33847352925
-
Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation
-
Maximov A, Pang ZP, Tervo DG, Sudhof TC. Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation. J Neurosci Methods. 2007;161 (1) :75-87.
-
(2007)
J Neurosci Methods
, vol.161
, Issue.1
, pp. 75-87
-
-
Maximov, A.1
Pang, Z.P.2
Tervo, D.G.3
Sudhof, T.C.4
|