-
1
-
-
54949144402
-
The autistic neuron: troubled translation?
-
Kelleher RJ , Bear MF. The autistic neuron: troubled translation?Cell 2008; 135: 401-6.
-
(2008)
Cell
, vol.135
, pp. 401-406
-
-
Kelleher, R.J.1
Bear, M.F.2
-
2
-
-
79957864093
-
Therapeutic role of mammalian target of rapamycin (mTOR) inhibition in preventing epileptogenesis
-
McDaniel SS, Wong M. Therapeutic role of mammalian target of rapamycin (mTOR) inhibition in preventing epileptogenesis. Neurosci Lett 2011; 3: 231-8.
-
(2011)
Neurosci Lett
, vol.3
, pp. 231-238
-
-
McDaniel, S.S.1
Wong, M.2
-
3
-
-
84870469320
-
-
American Psychiatric Association., 4th edn. Washington, DC: American Psychiatric Association
-
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th edn. Washington, DC: American Psychiatric Association, 2000.
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders
-
-
-
4
-
-
20044382649
-
Essential versus complex autism: definition of fundamental prognostic subtypes
-
Miles JH, Takahashi TN, Bagby S, et al.Essential versus complex autism: definition of fundamental prognostic subtypes. Am J Med Genet A 2000; 135: 171-80.
-
(2000)
Am J Med Genet A
, vol.135
, pp. 171-180
-
-
Miles, J.H.1
Takahashi, T.N.2
Bagby, S.3
-
5
-
-
81055126193
-
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
-
Goto J, Talos DM, Klein P, et al.Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci USA 2011; 108: E1070-9.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
-
-
Goto, J.1
Talos, D.M.2
Klein, P.3
-
6
-
-
54549106766
-
Neurofibromin regulation of ERK signaling modulates GABA release and learning
-
Cui Y, Costa RM, Murphy GG, et al.Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 2008; 135: 549-60.
-
(2008)
Cell
, vol.135
, pp. 549-560
-
-
Cui, Y.1
Costa, R.M.2
Murphy, G.G.3
-
8
-
-
79953225914
-
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
-
Numis AL, Major P, Montenegro MA, Muzykewicz DA, Pulsifer MB, Thiele EA. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology 2011; 76: 981-6.
-
(2011)
Neurology
, vol.76
, pp. 981-986
-
-
Numis, A.L.1
Major, P.2
Montenegro, M.A.3
Muzykewicz, D.A.4
Pulsifer, M.B.5
Thiele, E.A.6
-
9
-
-
79955572320
-
Risk and correlates of autism spectrum disorder in children with epilepsy: a community-based study
-
Berg AT, Plioplys S, Tuchman R. Risk and correlates of autism spectrum disorder in children with epilepsy: a community-based study. J Child Neurol 2001; 26: 540-7.
-
(2001)
J Child Neurol
, vol.26
, pp. 540-547
-
-
Berg, A.T.1
Plioplys, S.2
Tuchman, R.3
-
11
-
-
68349150812
-
Genetics and neuropsychiatric disorders: treatment during adulthood
-
Ehninger D, Silva AJ. Genetics and neuropsychiatric disorders: treatment during adulthood. Nat Med 2009; 15: 849-50.
-
(2009)
Nat Med
, vol.15
, pp. 849-850
-
-
Ehninger, D.1
Silva, A.J.2
-
12
-
-
0027997172
-
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659-85.
-
(1994)
J Autism Dev Disord
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
13
-
-
0033802632
-
The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism
-
Lord C, Risi S, Lambrecht L, et al.The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205-23.
-
(2000)
J Autism Dev Disord
, vol.30
, pp. 205-223
-
-
Lord, C.1
Risi, S.2
Lambrecht, L.3
-
15
-
-
77954386056
-
The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex
-
Granader YE, Bender HA, Zemon V, Rathi S, Nass R, Macallister WS. The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex. Epilepsy Behav 2010; 18: 262-6.
-
(2010)
Epilepsy Behav
, vol.18
, pp. 262-266
-
-
Granader, Y.E.1
Bender, H.A.2
Zemon, V.3
Rathi, S.4
Nass, R.5
Macallister, W.S.6
-
16
-
-
15744390996
-
Intergenerational transmission of subthreshold autistic traits in the general population
-
Constantino JN, Todd RD. Intergenerational transmission of subthreshold autistic traits in the general population. Biol Psychiatry 2005; 57: 655-60.
-
(2005)
Biol Psychiatry
, vol.57
, pp. 655-660
-
-
Constantino, J.N.1
Todd, R.D.2
-
17
-
-
77954625557
-
Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
-
Kwan P, Arzimanoglou A, Berg AT, et al.Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 2010; 51: 1069-77.
-
(2010)
Epilepsia
, vol.51
, pp. 1069-1077
-
-
Kwan, P.1
Arzimanoglou, A.2
Berg, A.T.3
-
18
-
-
80053386148
-
Special education participation in children with epilepsy: what does it reflect?
-
Berg AT, Hesdorffer DC, Zelko FA. Special education participation in children with epilepsy: what does it reflect?Epilepsy Behav 2011; 22: 336-41.
-
(2011)
Epilepsy Behav
, vol.22
, pp. 336-341
-
-
Berg, A.T.1
Hesdorffer, D.C.2
Zelko, F.A.3
-
19
-
-
84858275947
-
Epilepsy and autism: is there a special relationship?
-
Berg AT, Plioplys S. Epilepsy and autism: is there a special relationship?Epilepsy Behav 2012; 23: 193-5.
-
(2012)
Epilepsy Behav
, vol.23
, pp. 193-195
-
-
Berg, A.T.1
Plioplys, S.2
-
20
-
-
0345714899
-
Psychiatric disorders in adolescents with developmental disabilities: longitudinal data on diagnostic disagreement in 150 clients
-
Sevin JA, Bowers-Stephens C, Crafton CG. Psychiatric disorders in adolescents with developmental disabilities: longitudinal data on diagnostic disagreement in 150 clients. Child Psychiatry Hum Dev 2003; 34: 147-63.
-
(2003)
Child Psychiatry Hum Dev
, vol.34
, pp. 147-163
-
-
Sevin, J.A.1
Bowers-Stephens, C.2
Crafton, C.G.3
-
21
-
-
0000984981
-
Autistic disturbances of affective contact
-
Kanner L. Autistic disturbances of affective contact. Nerv Child 1943; 2: 217-50.
-
(1943)
Nerv Child
, vol.2
, pp. 217-250
-
-
Kanner, L.1
-
22
-
-
0034132966
-
Reciprocal social behavior in children with and without pervasive developmental disorders
-
Constantino JN, Przybeck T, Friesen D, Todd RD. Reciprocal social behavior in children with and without pervasive developmental disorders. J Dev Behav Pediatr 2000; 21: 2-11.
-
(2000)
J Dev Behav Pediatr
, vol.21
, pp. 2-11
-
-
Constantino, J.N.1
Przybeck, T.2
Friesen, D.3
Todd, R.D.4
-
23
-
-
51049093585
-
Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis
-
Amiet C, Gourfinkel-An I, Bouzamondo A, et al.Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry 2008; 64: 577-82.
-
(2008)
Biol Psychiatry
, vol.64
, pp. 577-582
-
-
Amiet, C.1
Gourfinkel-An, I.2
Bouzamondo, A.3
-
24
-
-
22544488406
-
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
-
Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005; 65: 235-8.
-
(2005)
Neurology
, vol.65
, pp. 235-238
-
-
Goh, S.1
Kwiatkowski, D.J.2
Dorer, D.J.3
Thiele, E.A.4
-
25
-
-
49649096645
-
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
-
Garcia-Nonell C, Ratera ER, Harris S, et al.Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A 2008; 146A: 1911-6.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1911-1916
-
-
Garcia-Nonell, C.1
Ratera, E.R.2
Harris, S.3
-
26
-
-
0041930931
-
Infantile spasms in Down syndrome - effects of delayed anticonvulsive treatment
-
Eisermann MM, DeLaRaillere A, Dellatolas G, et al.Infantile spasms in Down syndrome - effects of delayed anticonvulsive treatment. Epilepsy Res 2003; 55: 21-7.
-
(2003)
Epilepsy Res
, vol.55
, pp. 21-27
-
-
Eisermann, M.M.1
DeLaRaillere, A.2
Dellatolas, G.3
-
27
-
-
33846204311
-
The development of intellectual abilities in pediatric temporal lobe epilepsy
-
Cormack F, Cross JH, Isaacs E, et al.The development of intellectual abilities in pediatric temporal lobe epilepsy. Epilepsia 2007; 48: 201-4.
-
(2007)
Epilepsia
, vol.48
, pp. 201-204
-
-
Cormack, F.1
Cross, J.H.2
Isaacs, E.3
-
28
-
-
82555196668
-
Mutations causing syndromic autism define an axis of synaptic pathophysiology
-
Auerbach BD, Osterweil EK, Bear MF. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 2011; 480: 63-8.
-
(2011)
Nature
, vol.480
, pp. 63-68
-
-
Auerbach, B.D.1
Osterweil, E.K.2
Bear, M.F.3
-
29
-
-
84860491069
-
The interaction between early life epilepsy and autistic-like behavioral consequences: a role for the mammalian target of rapamycin (mTOR) pathway
-
Talos DM, Sun H, Zhou X, et al.The interaction between early life epilepsy and autistic-like behavioral consequences: a role for the mammalian target of rapamycin (mTOR) pathway. PLoS ONE 2012; 7: e35885.
-
(2012)
PLoS ONE
, vol.7
-
-
Talos, D.M.1
Sun, H.2
Zhou, X.3
-
30
-
-
84859893640
-
Genotype and cognitive phenotype in patients with tuberous sclerosis complex
-
van Eeghen A, Black M, Pulsifer M, Kwiatkowski D, Thiele E. Genotype and cognitive phenotype in patients with tuberous sclerosis complex. Eur J Hum Genet 2012; 20: 510-5.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 510-515
-
-
van Eeghen, A.1
Black, M.2
Pulsifer, M.3
Kwiatkowski, D.4
Thiele, E.5
-
31
-
-
21644485013
-
Intelligence in individuals with a neurofibromatosis type 1 microdeletion
-
Descheemaeker MJ, Roelandts K, De Raedt T, Brems H, Fryns JP, Legius E. Intelligence in individuals with a neurofibromatosis type 1 microdeletion. Am J Med Genet A 2004; 131: 325-6.
-
(2004)
Am J Med Genet A
, vol.131
, pp. 325-326
-
-
Descheemaeker, M.J.1
Roelandts, K.2
De Raedt, T.3
Brems, H.4
Fryns, J.P.5
Legius, E.6
-
32
-
-
77956108381
-
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
-
Mautner VF, Kluwe L, Friedrich RE, et al.Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 2010; 47: 623-30.
-
(2010)
J Med Genet
, vol.47
, pp. 623-630
-
-
Mautner, V.F.1
Kluwe, L.2
Friedrich, R.E.3
-
33
-
-
0035827825
-
Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism
-
Plank SM, Copeland-Yates SA, Sossey-Alaoui K, et al.Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism. Am J Med Genet 2001; 105: 404-5.
-
(2001)
Am J Med Genet
, vol.105
, pp. 404-405
-
-
Plank, S.M.1
Copeland-Yates, S.A.2
Sossey-Alaoui, K.3
-
34
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond CS, Heinrich J, Delorme R, et al.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012; 8: e1002521.
-
(2012)
PLoS Genet
, vol.8
-
-
Leblond, C.S.1
Heinrich, J.2
Delorme, R.3
-
35
-
-
78449298516
-
Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events
-
Qin W, Chan JA, Vinters HV, et al.Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 2010; 20: 1096-105.
-
(2010)
Brain Pathol
, vol.20
, pp. 1096-1105
-
-
Qin, W.1
Chan, J.A.2
Vinters, H.V.3
-
37
-
-
34147101712
-
Psychological profile of adults with tuberous sclerosis complex
-
Pulsifer MB, Winterkorn EB, Thiele EA. Psychological profile of adults with tuberous sclerosis complex. Epilepsy Behav 2007; 10: 402-6.
-
(2007)
Epilepsy Behav
, vol.10
, pp. 402-406
-
-
Pulsifer, M.B.1
Winterkorn, E.B.2
Thiele, E.A.3
-
39
-
-
33646145602
-
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman RJ. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J Dev Behav Pediatr 2006; 27: 63-74.
-
(2006)
J Dev Behav Pediatr
, vol.27
, pp. 63-74
-
-
Hagerman, R.J.1
-
40
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010; 167: 1349-56.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1349-1356
-
-
Constantino, J.N.1
Zhang, Y.2
Frazier, T.3
Abbacchi, A.M.4
Law, P.5
-
41
-
-
72949114263
-
Cognition across the lifespan: antiepileptic drugs, epilepsy, or both?
-
Hermann B, Meador KJ, Gaillard WD, Cramer JA. Cognition across the lifespan: antiepileptic drugs, epilepsy, or both?Epilepsy Behav 2010; 17: 1-5.
-
(2010)
Epilepsy Behav
, vol.17
, pp. 1-5
-
-
Hermann, B.1
Meador, K.J.2
Gaillard, W.D.3
Cramer, J.A.4
-
42
-
-
0035151993
-
Autistic disorders in Down syndrome: background factors and clinical correlates
-
Rasmussen P, Borjesson O, Wentz E, Gillberg C. Autistic disorders in Down syndrome: background factors and clinical correlates. Dev Med Child Neurol 2001; 43: 750-4.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 750-754
-
-
Rasmussen, P.1
Borjesson, O.2
Wentz, E.3
Gillberg, C.4
-
43
-
-
58749106090
-
Differences in the clinical presentation of Trisomy 21 with and without autism
-
Molloy CA, Murray DS, Kinsman A, et al.Differences in the clinical presentation of Trisomy 21 with and without autism. J Intellect Disabil Res 2009; 53: 143-51.
-
(2009)
J Intellect Disabil Res
, vol.53
, pp. 143-151
-
-
Molloy, C.A.1
Murray, D.S.2
Kinsman, A.3
-
44
-
-
3042635551
-
Autism in Angelman syndrome: an exploration of comorbidity
-
Trillingsgaard A, Ostergaard JR. Autism in Angelman syndrome: an exploration of comorbidity. Autism 2004; 8: 163-74.
-
(2004)
Autism
, vol.8
, pp. 163-174
-
-
Trillingsgaard, A.1
Ostergaard, J.R.2
-
45
-
-
77649123796
-
Brain structure and function in neurofibromatosis type 1: current concepts and future directions
-
Payne JM, Moharir MD, Webster R, North KN. Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry 2010; 81: 304-9.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 304-309
-
-
Payne, J.M.1
Moharir, M.D.2
Webster, R.3
North, K.N.4
-
46
-
-
33845996155
-
Neuroanatomical correlates of memory deficits in tuberous sclerosis complex
-
Ridler K, Suckling J, Higgins NJ, et al.Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007; 17: 261-71.
-
(2007)
Cereb Cortex
, vol.17
, pp. 261-271
-
-
Ridler, K.1
Suckling, J.2
Higgins, N.J.3
|