Výsledky vyhledávání - Ewout J. N. Groen
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Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy Autor Gillian Hunter, Rachael A. Powis, Ross A. Jones, Ewout J. N. Groen, Hannah K. Shorrock, Fiona Lane, Yinan Zheng, Diane L. Sherman, Peter Brophy, Thomas H. Gillingwater
Vydáno 2016Artigo -
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Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy Autor Ewout J. N. Groen, Elena Perenthaler, Natalie L. Courtney, Crispin Y. Jordan, Hannah K. Shorrock, Dinja van der Hoorn, Yu-Ting Huang, Lyndsay M. Murray, Gabriella Viero, Thomas H. Gillingwater
Vydáno 2018Artigo -
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The intracellular redox protein MICAL-1 regulates the development of hippocampal mossy fibre connections Autor Eljo Y. van Battum, Rou‐Afza F. Gunput, Suzanne Lemstra, Ewout J. N. Groen, Ka Lou Yu, Youri Adolfs, Yeping Zhou, Casper C. Hoogenraad, Yukata Yoshida, Melitta Schachner, Anna Akhmanova, R. Jeroen Pasterkamp
Vydáno 2014Artigo -
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In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology Autor Paola Bernabò, Toma Tebaldi, Ewout J. N. Groen, Fiona Lane, Elena Perenthaler, Francesca Mattedi, Helen J. Newbery, Haiyan Zhou, Paola Zuccotti, Valentina Potrich, Hannah K. Shorrock, Francesco Muntoni, Alessandro Quattrone, Thomas H. Gillingwater, Gabriella Viero
Vydáno 2017Artigo -
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Active Ribosome Profiling with RiboLace Autor Massimiliano Clamer, Toma Tebaldi, Fabio Lauria, Paola Bernabò, Rodolfo F. Gómez‐Biagi, Marta Marchioretto, Divya T. Kandala, L. Minati, Elena Perenthaler, Daniele Gubert, Laura Pasquardini, Graziano Guella, Ewout J. N. Groen, Thomas H. Gillingwater, Alessandro Quattrone, Gabriella Viero
Vydáno 2018Artigo -
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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy Autor Renske I. Wadman, Marc Jansen, Marloes Stam, Camiel A. Wijngaarde, Chantall A.D. Curial, Jelena Medic, Peter Sodaar, Jan Schouten, Raymon Vijzelaar, Henny H. Lemmink, Leonard H. van den Berg, Ewout J. N. Groen, W. Ludo van der Pol
Vydáno 2020Artigo -
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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy Autor Rachael A. Powis, Evangelia Karyka, Penelope J Boyd, Julien Côme, Ross A. Jones, Yinan Zheng, Eva Szunyogová, Ewout J. N. Groen, Gillian Hunter, Derek Thomson, Thomas M. Wishart, Catherina G. Becker, Simon H. Parson, Cécile Martinat, Mimoun Azzouz, Thomas H. Gillingwater
Vydáno 2016Artigo -
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SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy Autor Fabio Lauria, Paola Bernabò, Toma Tebaldi, Ewout J. N. Groen, Elena Perenthaler, Federica Maniscalco, Annalisa Rossi, Deborah Donzel, Massimiliano Clamer, Marta Marchioretto, Neža Omersa, Julia Orri, Mauro Dalla Serra, Gregor Anderluh, Alessandro Quattrone, Alberto Inga, Thomas H. Gillingwater, Gabriella Viero
Vydáno 2020Artigo -
14
Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study Autor Wouter van Rheenen, Frank P. Diekstra, Oliver Harschnitz, Henk-Jan Westeneng, Kristel R. van Eijk, Christiaan G. J. Saris, Ewout J. N. Groen, Michael A. van Es, Hylke M. Blauw, Paul W.J. van Vught, Jan H. Veldink, Leonard H. van den Berg
Vydáno 2018Artigo -
15
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study Autor Féline E. V. Scheijmans, Inge Cuppen, Ruben P.A. van Eijk, Camiel A. Wijngaarde, Marja Schoenmakers, Danny R van der Woude, Bart Bartels, Esther S. Veldhoen, Irene L B Oude Lansink, Ewout J. N. Groen, Fay‐Lynn Asselman, Renske I. Wadman, W. Ludo van der Pol
Vydáno 2022Artigo -
16
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges Autor Sherif Bayoumy, Inge M.W. Verberk, Lisa Vermunt, Eline A.J. Willemse, Ben den Dulk, Ans T. van der Ploeg, Dasja Pajkrt, Elisa Nitz, Johanna M.P. van den Hout, Julie van der Post, Nicole I. Wolf, Shanice Beerepoot, Ewout J. N. Groen, Victoria Tüngler, Charlotte E. Teunissen
Vydáno 2024Revisão -
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Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy Autor Penelope J Boyd, Wen-Yo Tu, Hannah K. Shorrock, Ewout J. N. Groen, Roderick N. Carter, Rachael A. Powis, Sophie R. Thomson, Derek Thomson, Laura C. Graham, Anna A. L. Motyl, Thomas M. Wishart, J. Robin Highley, Nicholas M. Morton, Thomas Becker, Catherina G. Becker, Paul R. Heath, Thomas H. Gillingwater
Vydáno 2017Artigo -
18
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN Autor Ewout J. N. Groen, Katsumi Fumoto, Anna M. Blokhuis, Joo-Yeon Engelen-Lee, Yeping Zhou, Dianne M.A. van den Heuvel, Max Koppers, Femke van Diggelen, Jessica van Heest, Jeroen Demmers, Janine Kirby, Pamela J. Shaw, Eleonora Aronica, Wim G.M. Spliet, Jan H. Veldink, Leonard H. van den Berg, R. Jeroen Pasterkamp
Vydáno 2013Artigo -
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Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways Autor Anna M. Blokhuis, Max Koppers, Ewout J. N. Groen, Dianne M.A. van den Heuvel, Stefano Dini Modigliani, Jasper J. Anink, Katsumi Fumoto, Femke van Diggelen, Anne Snelting, Peter Sodaar, Bert M. Verheijen, Jeroen Demmers, Jan H. Veldink, Eleonora Aronica, Irene Bozzoni, Jeroen den Hertog, Leonard H. van den Berg, R. Jeroen Pasterkamp
Vydáno 2016Artigo -
20
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy Autor Maria M Zwartkruis, Martin Elferink, Demi Gommers, I. Signoria, Laura Campello Blasco, Mar Costa‐Roger, Joyce van der Sel, Ivo Renkens, J. W. Green, Joris V Kortooms, Carlo Vermeulen, Roy Straver, Hanneke W. M. van Deutekom, Jan H. Veldink, Fay‐Lynn Asselman, Eduardo F. Tizzano, Renske I. Wadman, W. Ludo van der Pol, Gijs W. van Haaften, Ewout J. N. Groen
Vydáno 2025Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Pathology
Disease
Spinal muscular atrophy
Neuroscience
Amyotrophic lateral sclerosis
Cell biology
Combinatorics
Mathematics
Motor neuron
SMA*
Locus (genetics)
RNA
Spinal cord
Axon
Genome-wide association study
Genotype
Messenger RNA
Ribosome
Ribosome profiling
Single-nucleotide polymorphism
Translation (biology)
Atrophy
Bioinformatics
Computational biology
Genetic association
Internal medicine