Publications by authors named "Ewout J N Groen"

34Publications

Analysis of , , and as potential disease severity modifiers in spinal muscular atrophy.

Neurol Genet 2020 Feb 3;6(1):e386. Epub 2019 Jan 3.

Department of Neurology (R.I.W., M.D.J., C.A.D.C., E.J.N.G., M.S., C.A.W., J.M., P.S., K.R.E., W.R., J.H.V., L.H.B., W.L.P.), Brain Center Rudolf Magnus, University Medical Center Utrecht; Department of Pathology (M.M.H.H., J.K.), University Medical Center Utrecht; Department of Genetics (M.M.H.H.), University Medical Center Utrecht; and Department of Genetics (H.H.L.), University Medical Center Groningen, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975178PMC
February 2020

Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy.

J Neurol Neurosurg Psychiatry 2020 02 12;91(2):212-214. Epub 2019 Sep 12.

Department of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands

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http://dx.doi.org/10.1136/jnnp-2019-321506DOI Listing
February 2020

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting.

J Vis Exp 2019 04 9(146). Epub 2019 Apr 9.

Centre for Discovery Brain Sciences, University of Edinburgh; Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh;

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http://dx.doi.org/10.3791/59438DOI Listing
April 2019

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA.

Front Mol Neurosci 2019 4;12:59. Epub 2019 Mar 4.

Edinburgh Medical School: Biomedical Sciences, The University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.3389/fnmol.2019.00059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409332PMC
March 2019

Future avenues for therapy development for spinal muscular atrophy.

Authors:
Ewout J N Groen

Expert Opin Drug Discov 2018 10 27;13(10):899-902. Epub 2018 Aug 27.

a Centre for Discovery Brain Sciences and Euan MacDonald Centre for Motor Neurone Disease Research , University of Edinburgh , Edinburgh , UK.

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http://dx.doi.org/10.1080/17460441.2018.1514387DOI Listing
October 2018

riboWaltz: Optimization of ribosome P-site positioning in ribosome profiling data.

PLoS Comput Biol 2018 08 13;14(8):e1006169. Epub 2018 Aug 13.

Institute of Biophysics, CNR Unit at Trento, Trento, Italy.

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http://dx.doi.org/10.1371/journal.pcbi.1006169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112680PMC
August 2018

Advances in therapy for spinal muscular atrophy: promises and challenges.

Nat Rev Neurol 2018 04 9;14(4):214-224. Epub 2018 Feb 9.

Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1038/nrneurol.2018.4DOI Listing
April 2018

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.

Drugs 2018 Mar;78(3):293-305

Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Hugh Robson Building, 15 George Square, Edinburgh, EH8 9XD, UK.

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http://dx.doi.org/10.1007/s40265-018-0868-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829132PMC
March 2018

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration.

Trends Mol Med 2015 Oct;21(10):622-632

Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK; Centre for Integrative Physiology, University of Edinburgh, Edinburgh, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2015.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596250PMC
October 2015

The intracellular redox protein MICAL-1 regulates the development of hippocampal mossy fibre connections.

Nat Commun 2014 Jul 10;5:4317. Epub 2014 Jul 10.

Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ncomms5317DOI Listing
July 2014

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

Hum Mol Genet 2013 Sep 15;22(18):3690-704. Epub 2013 May 15.

Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddt222DOI Listing
September 2013

Protein aggregation in amyotrophic lateral sclerosis.

Acta Neuropathol 2013 Jun 15;125(6):777-94. Epub 2013 May 15.

Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00401-013-1125-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3661910PMC
June 2013

Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 8;14(3):190-8. Epub 2013 Jan 8.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.3109/21678421.2012.749914DOI Listing
April 2013

Meta-analysis of gene expression profiling in amyotrophic lateral sclerosis: a comparison between transgenic mouse models and human patients.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 4;14(3):177-89. Epub 2013 Jan 4.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.3109/21678421.2012.729842DOI Listing
April 2013

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.

Neurobiol Aging 2013 May 8;34(5):1518.e5-7. Epub 2012 Nov 8.

Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.018DOI Listing
May 2013

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Aug 15;33(8):1852.e1-3. Epub 2012 Apr 15.

Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.03.007DOI Listing
August 2012

VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Apr 10;33(4):837.e7-13. Epub 2011 Nov 10.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.006DOI Listing
April 2012

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Arch Neurol 2010 Feb;67(2):224-30

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan, Utrecht, the Netherlands.

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http://dx.doi.org/10.1001/archneurol.2009.329DOI Listing
February 2010