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Elsevier电子期刊(26)

在“Elsevier电子期刊”中，命中：26条，耗时：0.0539709 秒

在所有数据库中总计命中：50条

1.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

2.Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type 1

作者：Alicia J. Angelbello^a ; ^&dagger ; ; À ; lex L. Gonzá ; lez^b ; ^&dagger ; ; Suzanne G. Rzuczek^a ; Matthew D. Disney^a ;

关键词：RNA ; Chemical biology ; Pharmacophore ; Virtual screening ; Chemotype

刊名：Bioorganic & Medicinal Chemistry Letters

出版年：2016

3.Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

关键词：MIRS ; muscular impairment rating scale ; CTG ; cytosine&ndash ; thymine&ndash ; guanine ; DM1 ; myotonic dystrophy type 1 ; cDM1 ; congenital myotonic dystrophy type 1 ; DMPK ; Dystrophia myotonica protein kinase gene ; SIX5 ; SIX Homeobox 5 gene ; CUG-BP1 ; CUG RNA-binding protein ; MBNL-1 ; muscleblind-like (Drosophila) 1 protein ; MS-HRM ; methylation sensitive high resolution melting ; CpG ; cytosine-guanine ; CTCF ; CCCTC-binding factor

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2015

4.Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2

作者：C. Carpentier^a ; ^b ; D. Ghanem^a ; ^b ; F.J. Fernandez-Gomez^a ; ^b ; F. Jumeau^a ; ^b ; J.V. Philippe^c ; F. Freyermuth^d ; A. Labudeck^a ; ^b ; S. Eddarkaoui^a ; ^b ; C.M. Dhaenens^a ; ^b ; I. Holt^e ; ^f ; I. Behm-Ansmant^c ; N. Marmier-Gourrier^c ; C. Branlant^c ; N. Charlet-Berguerand^d ; J. Marie^g ; S. Schraen-Maschke^a ; ^b ; L. Bué ; e^a ; ^b ; N. Sergeant^a ; ^b ; ^{nicolas.sergeant@inserm.fr" class="auth_mail} ; M.L. Caillet-Boudin^a ; ^b ; ^{marie-laure.caillet@inserm.fr" class="auth_mail}

关键词：DM ; myotonic dystrophy

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：April, 2014

5.A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy

作者：Caroline A. Sewry^a ; ^b ; Ros C.M. Quinlivan^b ; Waney Squier^c ; Glenn E. Morris^a ; ^d ; Ian Holt^a ; ^{ian.holt@rjah.nhs.uk}

关键词：Congenital myotonic dystrophy ; Myotubular myopathy ; Hypotonia ; Floppy infant ; Muscleblind-like protein ; MBNL1

刊名：Neuromuscular Disorders

出版年：2012

6.The Chloride Channelopathy in Knockout Mice of Muscleblind-Like Proteins

作者：Carl Yu¹ ; Marino DiFranco¹ ; Sita Reddy² ; Warunee Dansithong³ ; Julio L. Vergara¹

刊名：Biophysical Journal

出版年：2013

7.Regulation of the alternative splicing of sarcoplasmic reticulum Ca²⁺-ATPase1 (SERCA1) by phorbol 12-myristate 13-acetate (PMA) via a PKC pathway

作者：Yimeng Zhao ; Michinori Koebis ; Satoshi Suo ; Shigeo Ohno ; Shoichi Ishiura

关键词：SERCA1 ; sarcoplasmic reticulum Ca2+-ATPase1 ; PMA ; phorbol 12-myristate 13-acetate ; DM1 ; myotonic dystrophy type 1 ; DMPK ; myotonic dystrophy protein kinase ; MBNL1 ; muscleblind-like protein 1 ; CUGBP1 ; CUG-binding protein 1 ; CELF ; CUG-BP and ETR-3-like (embr

刊名：Biochemical and Biophysical Research Communications

出版年：2012

8.Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

作者：Konstantinos Charizanis ; Kuang-Yung Lee ; Ranjan Batra ; Marianne Goodwin ; Chaolin Zhang ; Yuan Yuan ; Lily Shiue ; Melissa Cline ; Marina?M. Scotti ; Guangbin Xia ; Ashok Kumar ; Tetsuo Ashizawa ; H.?Brent Clark ; Takashi Kimura ; Masanori?P. Takahashi ; Harutoshi Fujimura ; Kenji Jinnai ; Hiroo Yoshikawa ; M¨¢rio Gomes-Pereira ; Genevi¨¨ve Gourdon ; et al.

刊名：Neuron

出版年：2012

9.Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

作者：Eric?T. Wang ; Neal?A.L. Cody ; Sonali Jog ; Michela Biancolella ; Thomas?T. Wang ; Daniel?J. Treacy ; Shujun Luo ; Gary?P. Schroth ; David?E. Housman ; Sita Reddy ; Eric L¨¦cuyer ; Christopher?B. Burge

刊名：Cell

出版年：2012

10.Zebrafish muscleblind-like genes: Identification, structural features and expression

作者：Yu-Fan Liu ; Hsin-Yu Liu ; Li-Chun Tu ; Chieh-Wen Lin ; Kuang-Ming Hsiao ; Huichin Pan

关键词：Muscleblind ; Mbnl ; Alternative splicing ; Gene expression ; Zebrafish

刊名：Comparative Biochemistry and Physiology, Part B

出版年：2008

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