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Scientific Reports (7)
European Journal of Human Genetics (4)
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Showing 1–13 of 13 results

Advanced filters: Author: Jan J. Verschuuren Clear advanced filters

Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction

Myasthenia gravis (MG) is a rare autoantibody-mediated disease affecting the neuromuscular junction. Here, the authors discover common genetic variation associated with the disease, increasing understanding of the genetic basis.

Alice Braun
Sudhanshu Shekhar
Stephan Ripke
ResearchOpen Access13 Nov 2024
Nature Communications

Volume: 15, P: 1-13
Lung cancer prediction in Lambert-Eaton myasthenic syndrome in a prospective cohort

Paul Maddison
Alexander F. Lipka
Jan J. Verschuuren
ResearchOpen Access29 Jun 2020
Scientific Reports

Volume: 10, P: 1-5
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Corien C Verschuuren-Bemelmans
Pia Winter
Ulrich Müller
Research04 Jun 2008
European Journal of Human Genetics

Volume: 16, P: 1407-1411
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

Susanne T de Bot
Rogier C Burggraaff
Hubertus PH Kremer
Research27 Feb 2013
European Journal of Human Genetics

Volume: 21, P: 1312-1315
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

Jeroen Trip
Gea Drost
Ieke B Ginjaar
Research12 Mar 2008
European Journal of Human Genetics

Volume: 16, P: 921-929
Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK

Jamie L. Lim
Roy Augustinus
Maartje G. Huijbers
ResearchOpen Access08 May 2023
Scientific Reports

Volume: 13, P: 1-16
Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Nathalie Doorenweerd
Ahmed Mahfouz
Boudewijn P. F. Lelieveldt
Amendments and CorrectionsOpen Access01 Mar 2018
Scientific Reports

Volume: 8, P: 1-2
Myasthenia gravis

Myasthenia gravis is an autoimmune disorder that is caused by autoantibodies against components of the neuromuscular junction. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of myasthenia gravis and discusses the quality-of-life issues faced by patients.

Nils Erik Gilhus
Socrates Tzartos
Jan J. G. M. Verschuuren
Reviews02 May 2019
Nature Reviews Disease Primers

Volume: 5, P: 1-19
Elevated Fab glycosylation of autoantibodies maintained during B cell depletion therapy

Anika M. Valk
Jana Koers
Amelie Bos
ResearchOpen Access28 Apr 2025
Scientific Reports

Volume: 15, P: 1-10
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings
Meyke I. Schouten
Erik-Jan Kamsteeg
ResearchOpen Access05 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 40-49
Sustained synchronized neuronal network activity in a human astrocyte co-culture system

Jacobine Kuijlaars
Tutu Oyelami
An Verheyen
ResearchOpen Access07 Nov 2016
Scientific Reports

Volume: 6, P: 1-14
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Nathalie Doorenweerd
Ahmed Mahfouz
Boudewijn P. F. Lelieveldt
ResearchOpen Access03 Oct 2017
Scientific Reports

Volume: 7, P: 1-12
Hand dexterity, daily functioning and health-related quality of life in kidney transplant recipients

Tim J. Knobbe
Daan Kremer
Stephan J. L. Bakker
ResearchOpen Access28 Sept 2022
Scientific Reports

Volume: 12, P: 1-10

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Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction

Lung cancer prediction in Lambert-Eaton myasthenic syndrome in a prospective cohort

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK

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

Myasthenia gravis

Elevated Fab glycosylation of autoantibodies maintained during B cell depletion therapy

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Sustained synchronized neuronal network activity in a human astrocyte co-culture system

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

Hand dexterity, daily functioning and health-related quality of life in kidney transplant recipients

Search

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