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9 results for Aartsma-Rus,+Annemieke+M.

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ArticlesPeer ReviewedFull Text
Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F
Author / Creator:Verhaart, Ingrid E. C. ; Putker, Kayleigh ; van de Vijver, Davy ; Tanganyika-de Winter, Christa L. ; Pasteuning-Vuhman, Svetlana ; Plomp, Jaap J. ; Aartsma-Rus, Annemieke M. ; van Putten, Maaike
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-08, Vol.14 (8), p.e0220665
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Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
Author / Creator:Doorenweerd, Nathalie ; Mahfouz, Ahmed ; van Putten, Maaike ; Kaliyaperumal, Rajaram ; t’ Hoen, Peter A. C. ; Hendriksen, Jos G. M. ; Aartsma-Rus, Annemieke M. ; Verschuuren, Jan J. G. M. ; Niks, Erik H. ; Reinders, Marcel J. T. ; Kan, Hermien E. ; Lelieveldt, Boudewijn P. F.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-03, Vol.8 (1), p.4058-2, Article 4058
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Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
Author / Creator:Doorenweerd, Nathalie ; Mahfouz, Ahmed ; van Putten, Maaike ; Kaliyaperumal, Rajaram ; t’ Hoen, Peter A. C. ; Hendriksen, Jos G. M. ; Aartsma-Rus, Annemieke M. ; Verschuuren, Jan J. G. M. ; Niks, Erik H. ; Reinders, Marcel J. T. ; Kan, Hermien E. ; Lelieveldt, Boudewijn P. F.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-10, Vol.7 (1), p.12575-12, Article 12575
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Author / Creator:Lemmers, Richard J L F ; Tawil, Rabi ; Petek, Lisa M ; Balog, Judit ; Block, Gregory J ; Santen, Gijs W E ; Amell, Amanda M ; van der Vliet, Patrick J ; Almomani, Rowida ; Straasheijm, Kirsten R ; Krom, Yvonne D ; Klooster, Rinse ; Sun, Yu ; den Dunnen, Johan T ; Helmer, Quinta ; Donlin-Smith, Colleen M ; Padberg, George W ; van Engelen, Baziel G M ; de Greef, Jessica C ; Aartsma-Rus, Annemieke M ; Frants, Rune R ; de Visser, Marianne ; Desnuelle, Claude ; Sacconi, Sabrina ; Filippova, Galina N ; Bakker, Bert ; Bamshad, Michael J ; Tapscott, Stephen J ; Miller, Daniel G ; van der Maarel, Silvère M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-12, Vol.44 (12), p.1370-1374
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
Author / Creator:van den Bergen, Janneke C ; Hiller, Monika ; Böhringer, Stefan ; Vijfhuizen, Linda ; Ginjaar, Hendrika B ; Chaouch, Amina ; Bushby, Kate ; Straub, Volker ; Scoto, Mariacristina ; Cirak, Sebahattin ; Humbertclaude, Véronique ; Claustres, Mireille ; Scotton, Chiara ; Passarelli, Chiara ; Lochmüller, Hanns ; Muntoni, Francesco ; Tuffery-Giraud, Sylvie ; Ferlini, Alessandra ; Aartsma-Rus, Annemieke M ; Verschuuren, Jan J G M ; 't Hoen, Peter AC ; Spitali, Pietro
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2015-10, Vol.86 (10), p.1060-1065
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Antisense-Mediated RNA Targeting: Versatile and Expedient Genetic Manipulation in the Brain
Author / Creator:Zalachoras, Ioannis ; Evers, Melvin M. ; van Roon-Mom, Willeke M. C. ; Aartsma-Rus, Annemieke M. ; Meijer, Onno C.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2011-01, Vol.4, p.10
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
Author / Creator:de Brouwer, Arjan PM ; Nabuurs, Sander B ; Verhaart, Ingrid EC ; Oudakker, Astrid R ; Hordijk, Roel ; Yntema, Helger G ; Hordijk-Hos, Jannet M ; Voesenek, Krysta ; de Vries, Bert BA ; van Essen, Ton ; Chen, Wei ; Hu, Hao ; Chelly, Jamel ; den Dunnen, Johan T ; Kalscheuer, Vera M ; Aartsma-Rus, Annemieke M ; Hamel, Ben CJ ; van Bokhoven, Hans ; Kleefstra, Tjitske
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.480-485
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The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation
Author / Creator:Rutten, Julie W. ; Klever, Roselin R. ; Hegeman, Ingrid M. ; Poole, Dana S. ; Dauwerse, Hans G. ; Broos, Ludo A. M. ; Breukel, Cor ; Aartsma-Rus, Annemieke M. ; Verbeek, J. Sjef ; van der Weerd, Louise ; van Duinen, Sjoerd G. ; van den Maagdenberg, Arn M. J. M. ; Lesnik Oberstein, Saskia A. J.
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2015-12, Vol.3 (1), p.89, Article 89
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Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
Author / Creator:Hammond, Suzan M ; Aartsma‐Rus, Annemieke ; Alves, Sandra ; Borgos, Sven E ; Buijsen, Ronald A M ; Collin, Rob W J ; Covello, Giuseppina ; Denti, Michela A ; Desviat, Lourdes R ; Echevarría, Lucía ; Foged, Camilla ; Gaina, Gisela ; Garanto, Alejandro ; Goyenvalle, Aurelie T ; Guzowska, Magdalena ; Holodnuka, Irina ; Jones, David R ; Krause, Sabine ; Lehto, Taavi ; Montolio, Marisol ; Van Roon‐Mom, Willeke ; Arechavala‐Gomeza, Virginia
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2021-04, Vol.13 (4), p.e13243-n/a
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Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F

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Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

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Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

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Antisense-Mediated RNA Targeting: Versatile and Expedient Genetic Manipulation in the Brain

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

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The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

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Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

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