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List of works by Ewout J N Groen

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

scientific article

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

scientific article published on 12 September 2019

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

scientific article published on 9 February 2018

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

scientific article published on 03 January 2019

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.

scientific article

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

scientific article published in February 2010

Future avenues for therapy development for spinal muscular atrophy

article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

scientific article published on 08 June 2020

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

scientific article published in October 2017

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

scientific article

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

scientific article published on 04 March 2019

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

scientific article

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

scientific article published on 09 July 2020

Protein aggregation in amyotrophic lateral sclerosis.

scientific article published on 15 May 2013

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.

scientific article

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

scientific article published on 09 April 2019

SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy

scientific article published on 21 September 2020

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

scientific article

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

scientific article published on 01 August 2018

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

scientific journal article

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

scientific article published on 01 October 2018

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

scientific article

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 November 2011

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.

scientific article published on 25 June 2018

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

scientific article published on 13 August 2018

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