搜索页_ Fragile X-associated tremor/ataxia syndrome

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在“Elsevier电子期刊”中，命中：259条，耗时：小于0.01 秒

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1.Molecular neurobiology of mTOR

作者：Katarzyna Switon^a ; Katarzyna Kotulska^b ; Aleksandra Janusz-Kaminska^a ; Justyna Zmorzynska^a ; Jacek Jaworski^a ; ^{jaworski@iimcb.gov.pl}

关键词：4E-BPs ; 4E-binding proteins ; Atg13 ; autophagy-related protein 13 ; BDNF ; brain-derived neurotrophic factor ; CGG ; trinucleotide ; EGF ; epidermal growth factor ; FXS ; Fragile X syndrome ; Hif1α ; hypoxia-inducible factor 1-α ; LTD ; long-term depression ; LTP ; long-term potentiation ; MAMs ; mitochondrion-associated membranes ; mTOR ; mammalian/mechanistic target of rapamycin ; NSC ; neural stem cell ; p70S6K1 ; p70 ribosomal S6 protein kinase 1 ; PKC ; protein kinase C ; Rheb ; Ras homolog enriched in brain protein

刊名：Neuroscience

出版年：2017

2.Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation

作者：Fen-Biao Gao¹ ; ^{fen-biao.gao@umassmed.edu} ; Joel D. Richter²

关键词：ALS ; C9ORF72 ; FMR1 ; frontotemporal dementia ; FXTAS ; microsatellite ; neurodegeneration ; nuclear lamina ; RAN translation ; repeats

刊名：Neuron

出版年：2017

3.Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

作者：Sarah Kalus^a ; ^{sarahkalus@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; John King^b ; Elaine Lui^a ; ^c ; Frank Gaillard^a ; ^c

关键词：Ataxia ; FMR1 ; Fragile X-associated tremor/ataxia syndrome ; Fragile X syndrome ; Middle cerebellar peduncle sign ; Tremor

刊名：Journal of Clinical Neuroscience

出版年：2016

4.Fragile X syndrome: Current insight

作者：Deepika Delsa Dean ^{deepikadean.ddd@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Srinivasn Muthuswamy ^{srinimbt@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sarita Agarwal ; ^{saritasgpgi@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：ID ; intellectual disability ; FXS ; fragile X syndrome ; FMR1 ; Fragile X Mental Retardation 1 ; FMRP ; Fragile X Mental Retardation Protein ; UTR ; untranslated region ; PM ; premutation ; FM ; full mutation ; DNA ; deoxyribo nucleic acid ; FXTAS ; Fragile X-associated Tremor/Ataxia Syndrome ; FXPOI ; Fragile X associated Premature Ovarian Faliure ; mRNA ; messenger ribonucleic acid ; FSH ; follicle stimulating hormone ; AMH ; anti-mullerian hormone ; NLS ; nuclear localization signal ; NES ; nuclear export signal

刊名：Egyptian Journal of Medical Human Genetics

出版年：2016

5.Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report

作者：Gertrú ; d Tamá ; s^a ; ^{tamas.gertrud@med.semmelweis-univ.hu" class="auth_mail" title="E-mail the corresponding author} ; Norbert Ková ; cs^b ; Noé ; mi Á ; gnes Varga^c ; Pé ; ter Barsi^d ; Lorá ; nd Erőss^e ; Má ; ria Judit Molná ; r^c ; Istvá ; n Balá ; s^f

关键词：Fragile X tremor/ataxia syndrome ; Ataxia ; Tremor ; Deep brain stimulation ; Thalamotomy

刊名：Neurologia i Neurochirurgia Polska

出版年：2016

6.Moving Toward Integrative, Multidimensional Research in Modern Psychiatry: Lessons Learned From Fragile X Syndrome

作者：Lawrence K. Fung^a ; Allan L. Reiss^b ; ^{areiss1@stanford.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Behavior ; DSM5 ; Fragile X syndrome ; GABA ; Multidimensional research ; RDoC

刊名：Biological Psychiatry

出版年：2016

7.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

8.Hippocampal neuronal subtypes develop abnormal dendritic arbors in the presence of Fragile X astrocytes

作者：S. Jacobs ; C. Cheng ; L.C. Doering ; ^{doering@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：BSA ; bovine serum albumin ; E/I ; excitatory/inhibitory ; FMRP ; Fragile X Mental Retardation Protein ; FXS ; Fragile X syndrome ; GAD ; glutamate decarboxylase ; MAP2 ; microtubule-associated protein 2

刊名：Neuroscience

出版年：2016

9.Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review

作者：Rebecca Lyndsey Hardiman^a ; ^{rh432@kent.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Dr. Alison Bratt^b

关键词：Fragile X Syndrome ; FMR1 ; FMRP ; Autism ; Hypothalamic-pituitary-adrenal axis ; Cortisol ; Corticosterone ; Glucocorticoid ; Systematic review ; KO mouse ; HPA

刊名：Physiology & Behavior

出版年：2016

10.Histological Examination of Trousseau Syndrome-Related Thrombus Retrieved Through Acute Endovascular Thrombectomy: Report of 2 Cases

作者：Naoki Matsumoto ; MD^* ; ^&dagger ; ; ^{naoki@kuhp.kyoto-u.ac.jp} ; Hitoshi Fukuda ; MD^* ; Akira Handa ; MD^* ; Toshinari Kawasaki ; MD^* ; Yoshitaka Kurosaki ; MD^* ; Masaki Chin ; MD^* ; Sen Yamagata ; MD^*

关键词：Thrombus ; acute cerebral large vessel occlusion ; Trousseau syndrome ; histological examination

刊名：Journal of Stroke and Cerebrovascular Diseases

出版年：2016

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