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Elsevier电子期刊(65)

在“Elsevier电子期刊”中，命中：65条，耗时：小于0.01 秒

在所有数据库中总计命中：65条

1.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

2.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

3.Memory deficits, gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha

作者：Mary F. Barbe^a ; ^c ; ^{mary.barbe@temple.edu" class="auth_mail" title="E-mail the corresponding author} ; ^{mbarbe@temple.edu" class="auth_mail" title="E-mail the corresponding author} ; Jessica J. Krueger^c ; Regina Loomis^c ; Jessica Otte^b ; ^c ; Jennifer Gordon^b ; ^c

关键词：FMRP ; FMR protein ; FXTAS ; Fragile X Tremor Ataxia Syndrome ; HAND ; HIV-1 associated neurological disease

刊名：Neuroscience

出版年：2016

4.RNA FISH for detecting expanded repeats in human diseases

作者：Martyna O. Urbanek ; Wlodzimierz J. Krzyzosiak ; ^{wlodkrzy@ibch.poznan.pl" class="auth_mail" title="E-mail the corresponding author}

关键词：DM ; myotonic dystrophy ; HD ; Huntington&rsquo ; s disease ; SCA ; spinocerebellar ataxia ; DRPLA ; dentatorubral-pallidoluysian atrophy ; HDL2 ; Huntington disease-like 2 ; ALS/FTD ; amyotrophic lateral sclerosis/frontotemporal dementia ; FXTAS ; fragile X-associated tremor/ataxia syndrome ; TREDs ; triplet repeat expansion diseases ; MBNL1 ; muscleblind-like 1 ; DMPK ; dystrophia myotonica protein kinase ; FISH ; fluorescence in situ hybridization ; IF ; immunofluorescence ; LNA ; locked nucleic acids ; PNA ; peptide nuc

刊名：Methods

出版年：2016

5.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

6.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

7.Expansión del triplete citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia

作者：Jesú ; s Gonzá ; lez-Pé ; rez^a ; ^{jesusgonpe@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Silvia Izquierdo-Á ; lvarez^b ; Cristina Fuertes-Rodrigo^a ; Lorena Monge-Galindo^a ; José ; Luis Peñ ; a-Segura^a ; Francisco Javier Ló ; pez-Pisó ; n^a

关键词：Sí ; ndrome de X-frá ; gil ; Insuficiencia ová ; rica primaria asociada al sí ; ndrome de X-frá ; gil ; Sí ; ndrome de temblor-ataxia asociado al sí ; ndrome de X-frá ; gil ; Triplet repeat primer-polymerase chain reaction ; Interrupciones Adenina-Guanina-Guanina ; Discapacidad intelectual ; Deleció ; n 1q21.1.

刊名：Medicina Clínica

出版年：2016

8.Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): Revisited

作者：Yu-Qiong Niu^a ; ^b ; ^{niuyq2006@gmail.com" class="auth_mail} ; Jin-Chen Yang^a ; ^b ; Deborah A. Hall^c ; Maureen A. Leehey^d ; Flora Tassone^e ; ^f ; John M. Olichney^a ; ^b ; Randi J. Hagerman^f ; ^g ; Lin Zhang^a ; ^{lin.zhang@ucdmc.ucdavis.edu" class="auth_mail}

关键词：Fragile X premutation ; Parkinsonism ; Bradykinesia ; FMR1 mRNA

刊名：Parkinsonism and Related Disorders

出版年：April, 2014

9.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome

作者：Dalyir I. Pretto ; Madhur Kumar ; Zhengyu Cao ; Christopher L. Cunningham ; Blythe Durbin-Johnson ; Lihong Qi ; Robert Berman ; Stephen C. Noctor ; R ; i J. Hagerman ; Isaac N. Pessah ; Flora Tassone

关键词：FMR1 ; FMRP ; Premutation ; Fragile X tremor/ataxia syndrome ; FXTAS ; Glu transporters ; EAAT1 ; EAAT2 ; mGluR5

刊名：Neurobiology of Aging

出版年：May, 2014

10.Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome

作者：Giovanni Battistella^a ; ¹ ; Julien Niederhauser^b ; ¹ ; Eleonora Fornari^a ; ^c ; Loyse Hippolyte^d ; Aline Gronchi Perrin^b ; Gaetan Lesca^e ; Francesca Forzano^f ; Patric Hagmann^a ; Francois J.G. Vingerhoets^b ; Bogdan Draganski^g ; ^h ; ⁱ ; Philippe Maeder^a ; ² ; Sé ; bastien Jacquemont^d ; ² ; ^{sebastien.jacquemont@chuv.ch}

关键词：FXTAS ; Premutation ; Genetics ; Volumetric MRI ; DTI

刊名：Neurobiology of Aging

出版年：2013

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