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Anneke J. van der Kooi

Researcher at University of Amsterdam

Publications -  143
Citations -  8094

Anneke J. van der Kooi is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 39, co-authored 114 publications receiving 6617 citations. Previous affiliations of Anneke J. van der Kooi include University College London.

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Journal ArticleDOI

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

Judith C.T. van Deutekom, +15 more
- 27 Dec 2007 - 
TL;DR: Intramuscular injection of antisense oligonucleotide PRO051 induced dystrophin synthesis in four patients with Duchenne's muscular dystrophy who had suitable mutations, suggesting that further studies might be feasible.
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen, +187 more
- 01 Sep 2016 - 
TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).
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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Jop H. van Berlo, +11 more
- 01 Jan 2005 - 
TL;DR: This meta-analysis suggests that cardiomyopathy due to lamin A/C gene mutations portends a high risk of sudden death, and that this risk does not differ between subjects with predominantly cardiac or neuromuscular disease.
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Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers A European Cohort Study

Ingrid A.W. van Rijsingen, +18 more
- 31 Jan 2012 - 
TL;DR: In this paper, risk factors that predict malignant ventricular arrhythmias (MVA) in Lamin A/C (LMNA) mutation carriers were determined, defined as sudden cardiac death, resuscitation and appropriate implantable cardioverter-defibrillator (ICD) treatment.
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Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

James F. Howard, +623 more
- 01 Dec 2017 - 
TL;DR: A phase 3, randomised, double-blind, placebo-controlled, multicentre study in 76 hospitals and specialised clinics across North America, Latin America, Europe, and Asia to assess the efficacy and safety of eculizumab in patients with refractory myasthenia gravis.