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在“Elsevier电子期刊”中，命中：23条，耗时：0.0469862 秒

在所有数据库中总计命中：47条

1.Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

作者：Melvin M. Evers ; Hoang-Dai Tran ; Ioannis Zalachoras ; Barry A. Pepers ; Onno C. Meijer ; Johan T. den Dunnen ; Gert-Jan B. van Ommen ; Annemieke Aartsma-Rus ; Willeke M.C. van Roon-Mom

关键词：SCA3 ; spinocerebellar ataxia type 3 ; MJD ; Machado&ndash ; Joseph disease ; PolyQ ; polyglutamine ; ATXN3 ; ataxin-3 ; UIMs ; ubiquitin interacting motifs ; RNAi ; RNA interference ; AON ; antisense oligonucleotide ; SNP ; single nucleotide polymorphism ; DMD ; Duchenne m

刊名：Neurobiology of Disease

出版年：2013

2.Advances in therapeutic RNA-targeting

作者：Gert-Jan B. van Ommen ; ^gjvo@lumc.nl ; Annemieke Aartsma-Rus

刊名：New Biotechnology

出版年：2013

3.A 3 months mild functional test regime does not affect disease parameters in young mdx mice

作者：Maaike van Putten ; Christa de Winter ; Willeke van Roon-Mom ; Gert-Jan van Ommen ; Peter A.C. ’ ; t Hoen ; Annemieke Aartsma-Rus

关键词：Mdx mouse ; Duchenne Muscular Dystrophy ; Histopathology ; Biomarkers ; Functional tests

刊名：Neuromuscular Disorders

出版年：2010

4.The risks of therapeutic misconception and individual patient (n = 1) “trials” in rare diseases such as Duchenne dystrophy

作者：Annemieke Aartsma-Rus ; ¹ ; ^a ; ^{a.m.rus@lumc.nl} ; Cosigned by ; Pat Furlong^b ; Elizabeth Vroom^c ; AFM (France) LUMC Duchenne team ; Gert-Jan van Ommen PhD^d ; Erik Niks MD^e ; Chiara Straathof MD^e ; Jan Verschuuren MD ; PhD^e ; TREAT-NMD Project ethics council Members ; Annemieke Aartsma-Rus ; Alessandra Ferlini ; Lynn Hagger ; Emma Heslop ; Veronika Karcagi ; Jan Kirschner ; Pauline McCormack ; Pat Moeschen ; Francesco Muntoni ; Marie-Christine Ouillade ; Jes Rahbeck ; Christoph Rehmann-Sutter ; Francoise Rouault ; Tomas Sejersen ; Elizabeth Vroom ; Simon Woods ; TREAT-NMD Global Database Oversight Committee

刊名：Neuromuscular Disorders

出版年：2011

5.Less is more: therapeutic exon skipping for Duchenne muscular dystrophy

作者：Annemieke Aartsma-Rus ; Gert-Jan B van Ommen

刊名：Lancet Neurology

出版年：2009

6.Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons

作者：Annemieke Aartsma-Rus ; Wendy E. Kaman ; Rudie Weij ; Johan T. den Dunnen ; Gert-Jan. B. van Ommen and Judith C.T. van Deutekom

关键词：DMD ; dystrophin ; therapy ; exon skipping ; antisense ; ESE ; splicing

刊名：Molecular Therapy

出版年：2006

7.Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis

作者：Shu-Yan Cong ; Barry A. Pepers ; Raymund A.C. Roos ; Gert-Jan B. van Ommen and Josephine C. Dorsman

关键词：Huntington's disease ; N-terminal fragments of huntingtin ; Native property ; Molecular pathogenesis

刊名：Experimental Neurology

出版年：2006

8.Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4

作者：Ellen Sterrenburg ; Caroline G.C. van der Wees ; Stefan J. White ; Rolf Turk ; René ; e X. de Menezes ; Gert-Jan B. van Ommen ; Johan T. den Dunnen and Peter A.C. 't Hoen

刊名：Neurobiology of Disease

出版年：2006

9.Mutant huntingtin represses CBP, but not p300, by binding and protein degradation

作者：Shu-Yan Cong ; Barry A. Pepers ; Bernd O. Evert ; David C. Rubinsztein ; Raymund A.C. Roos ; Gert-Jan B. van Ommen and Josephine C. Dorsman

刊名：Molecular and Cellular Neuroscience

出版年：2005

10.Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP

作者：Jeroen H. Roelfsema ; Stefan J. White ; Yavuz Ariyü ; rek ; Deborah Bartholdi ; Dunja Niedrist ; Francesco Papadia ; Carlos A. Bacino ; Johan T. den Dunnen ; Gert-Jan B. van Ommen ; Martijn H. Breuning ; Raoul C. Hennekam ; Dorien J.M. Peters

刊名：The American Journal of Human Genetics

出版年：2005

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