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在“Elsevier电子期刊”中，命中：443条，耗时：0.0169938 秒

在所有数据库中总计命中：764条

1.Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

作者：S.W. Hulbert^a ; Y.-H. Jiang^a ; ^b ; ^{yong-hui.jiang@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ASDs ; Autism spectrum disorders ; CNV ; copy number variant ; eIPSC ; evoked IPSC ; FMRP ; fragile X mental retardation protein ; FXS ; fragile X syndrome ; LOH ; loss of heterozygosity ; LTD ; long-term depression ; LTP ; long-term potentiation ; mEPSCs ; miniature excitatory postsynaptic currents ; mGluRs ; metabotropic glutamate receptors ; mIPSCs ; miniature inhibitory postsynaptic currents ; MSNs ; medium spiny neurons ; PHTS ; PTEN hamartoma tumor syndromes ; TSC ; tuberous sclerosis complex

刊名：Neuroscience

出版年：2016

2.Fragile X Mental Retardation Protein and Dendritic Local Translation of the Alpha Subunit of the Calcium/Calmodulin-Dependent Kinase II Messenger RNA Are Required for the Structural Plasticity Underlying Olfactory Learning

作者：Laura Daroles^a ; Simona Gribaudo^a ; Mohamed Doulazmi^a ; Sophie Scotto-Lomassese^a ; Caroline Dubacq^a ; Nathalie Mandairon^c ; Charles August Greer^d ; Anne Didier^c ; Alain Trembleau^a ; Isabelle Caillé ; ^a ; ^b ; ^{isabelle.caille@snv.jussieu.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Adult neurogenesis ; Fragile X mental retardation protein ; Learning ; Local translation ; Olfactory bulb ; Structural plasticity

刊名：Biological Psychiatry

出版年：2016

3.Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

作者：Delphine Breuillard^a ; ^b ; Dorothé ; e Leunen^a ; Nicole Chemaly^a ; ^b ; Laurent Auclair^b ; ^c ; Jean Marc Pinard^d ; Anna Kaminska^e ; Isabelle Desguerre^a ; ^c ; Lisa Ouss^a ; ¹ ; Rima Nabbout^a ; ^b ; ^c ; ¹ ; ^{rima.nabbout@aphp.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：EFMR ; epilepsy in females with mental retardation ; DS ; Dravet syndrome ; ID ; intellectual disorder ; ASD ; autism spectrum disorder ; VABS ; Vineland Adaptive Behavior Scales ; CBCL ; Child Behavior Checklist ; BRIEF ; Behavior Rating Inventory of Executive Function (BRIEF) ; PEP ; Psychoeducational Profile ; WPPSI ; Wechsler Preschool and Primary Scale of Intelligence ; WISC ; Wechsler Intelligence Scale for Children ; NEPSY ; A Developmental Neuropsychological Assessment ; ADOS ; Autism Diagnostic Observational

刊名：Epilepsy & Behavior

出版年：2016

4.Neuron class-specific requirements for Fragile X Mental Retardation Protein in critical period development of calcium signaling in learning and memory circuitry

作者：Caleb A. Doll ; Kendal Broadie ; ^{kendal.broadie@vanderbilt.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Autism spectrum disorder ; Fragile X syndrome ; Excitation vs. inhibition ; Activity-dependent ; Optogenetics ; Drosophila

刊名：Neurobiology of Disease

出版年：2016

5.Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

作者：Crystal Bostrom^a ; Suk-yu Yau^b ; Namat Majaess^a ; Mariana Vetrici^a ; Joana Gil-Mohapel^a ; ^c ; Brian R. Christie^a ; ^c ; ^{brain64@uvic.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：AMPAR ; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor ; ASD ; autism spectrum disorder ; BrdU ; 5-bromo-2&prime ; -deoxyuridine ; CA ; cornu ammonis ; CaMKII ; calcium/calmodulin-dependent protein kinase II ; CGG ; cytosine-guanine-guanine ; DG ; dentate gyrus ; DHPG ; (S)-3 ; 5-dihydroxyphenylglycine ; EPSCs ; excitatory postsynaptic currents ; Fmr1 ; Fragile X Mental Retardation 1 ; FMRP ; Fragile X Mental Retardation Protein ; FXS ; Fragile-X Syndrome ; GABA ; γ-aminobutyric acid ; GSK3β ; glycogen synthase

刊名：Neuroscience & Biobehavioral Reviews

出版年：2016

6.Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain

作者：J.K.Y. Lai^a ; ^{jon.lai@yorku.ca" class="auth_mail" title="E-mail the corresponding author} ; ^{laijky@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author} ; J.P. Lerch^b ; ^{jason@phenogenomics.ca" class="auth_mail" title="E-mail the corresponding author} ; L.C. Doering^c ; ^{doering@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author} ; J.A. Foster^a ; ^{jfoster@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author} ; J. Ellegood^b ; ^{jacob@mouseimaging.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：ASD ; autism spectrum disorder ; B6 ; C57Bl/6 ; DTI ; diffusion tensor imaging ; FMR1 ; Fragile X Mental Retardation 1 gene ; FMRP ; Fragile X Mental Retardation Protein ; FXS ; Fragile X Syndrome ; KO ; knock-out ; MRI ; magnetic resonance imaging ; PBS ; phosphate-buffered saline ; PFA ; paraformaldehyde

刊名：Neuroscience

出版年：2016

7.The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

作者：Francesca Rosafio^a ; Francesco Cavallieri^a ; Pietro Guaraldi^b ; Franco Taroni^c ; Paolo Frigio Nichelli^a ; Jessica Mandrioli^a ; ^{j.mandrioli@ausl.mo.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Cerebrotendinous xanthomatosis ; Spinocerebellar ataxia ; CYP27A1 gene ; Cholesterol and cholestanol deposition ; Chenodeoxycholic acid

刊名：Clinical Neurology and Neurosurgery

出版年：2016

8.The long non-coding RNA FMR4 promotes proliferation of human neural precursor cells and epigenetic regulation of gene expression in trans

关键词：FXS ; Fragile X syndrome ; FXPOI ; Fragile X-related primary ovarian insufficiency ; FXTAS ; Fragile X-associated tremor/ataxia syndrome ; FMRP ; Fragile X mental retardation protein ; ncRNAs ; Non-coding RNAs ; mRNA ; Messenger RNA ; lncRNAs ; Long non-coding RNAs ; ASD ; Autism spectrum disorder ; hNPCs ; Human neural precursor cells ; EdU ; 5-Ethynyl-2&prime ; -deoxyuridine ; hNS ; Human neurospheres ; H3K4Me3 ; Histone H3 lysine 4 trimethylation ; H3K27Me3 ; Histone H3 lysine 27 trimethylation ; DIV ; Days in vitro

刊名：Molecular and Cellular Neuroscience

出版年：2016

9.Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

作者：M. Masciullo^a ; A. Tessa^b ; S. Perazza^b ; ^c ; F.M. Santorelli^b ; A. Perna^d ; G. Silvestri^d ; ^{gsilvestri@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author}

关键词：SPG56 ; Hydromyelia ; CYP2U1

刊名：European Journal of Paediatric Neurology

出版年：2016

10.Clinical and genetic analysis of two Chinese infants with Mabry syndrome

作者：Jiao Xue ; Hui Li ; Yuehua Zhang ; Zhixian Yang ; ^{zhixian.yang@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Hyperphosphatasia ; Cognitive disability ; Seizures ; PIGV gene ; PIGO gene

刊名：Brain and Development

出版年：2016

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