Pathophysiology of myasthenia gravis with antibodies to the acetylcholine receptor, muscle-specific kinase and low-density lipoprotein receptor-related protein 4

JJGM Verschuuren, MG Huijbers, JJ Plomp, EH Niks… - Autoimmunity …, 2013 - Elsevier
Myasthenia gravis is caused by antibodies to the acetylcholine receptor, muscle-specific
kinase, low-density lipoprotein receptor-related protein 4, or possibly yet unidentified …

Exon skipping: a first in class strategy for Duchenne muscular dystrophy

EH Niks, A Aartsma-Rus - Expert opinion on biological therapy, 2017 - Taylor & Francis
Introduction: Exon skipping is a therapeutic approach for Duchenne muscular dystrophy
(DMD) that has been in development for close to two decades. This approach uses …

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

CV Logan, G Szabadkai, JA Sharpe, DA Parry… - Nature …, 2014 - nature.com
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling
regulates aerobic metabolism, whereas pathological Ca2+ overload triggers cell death …

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

MG Huijbers, W Zhang, R Klooster… - Proceedings of the …, 2013 - National Acad Sciences
Myasthenia gravis (MG) is a severely debilitating autoimmune disease that is due to a
decrease in the efficiency of synaptic transmission at neuromuscular synapses. MG is …

Fewer thymic changes in MuSK antibody‐positive than in MuSK antibody‐negative MG

MI Leite, P Ströbel, M Jones, K Micklem… - Annals of …, 2005 - Wiley Online Library
In generalized myasthenia gravis (MG) patients without detectable acetylcholine receptor
(AChR) antibodies (SNMG), the thymus is often reported as “normally involuted.” We …

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

R Klooster, JJ Plomp, MG Huijbers, EH Niks… - Brain, 2012 - academic.oup.com
Myasthenia gravis is a paralytic disorder with autoantibodies against acetylcholine receptors
at the neuromuscular junction. A proportion of patients instead has antibodies against …

Risk for myasthenia gravis maps to a 151Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08

PK Gregersen, R Kosoy, AT Lee, J Lamb… - Annals of …, 2012 - Wiley Online Library
Objective: The objective of this study is to comprehensively define the genetic basis of early
onset myasthenia gravis (EOMG). Methods: We have carried out a 2‐stage genome‐wide …

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

N Doorenweerd, A Mahfouz, M van Putten… - Scientific reports, 2017 - nature.com
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of
learning and behavioural problems and is associated with neurodevelopmental disorders …

Reduced cerebral gray matter and altered white matter in boys with D uchenne muscular dystrophy

N Doorenweerd, CS Straathof, EM Dumas… - Annals of …, 2014 - Wiley Online Library
Objective Duchenne muscular dystrophy (DMD) is characterized by progressive muscle
weakness caused by DMD gene mutations leading to absence of the full‐length dystrophin …

Report on the workshop: meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017

V Straub, E Mercuri, A Aartsma-Rus… - Neuromuscular …, 2018 - Elsevier
With the rapid increase in the number of interventional clinical trials in Duchenne muscular
dystrophy (DMD) over the past few years, the need for a frank and honest discussion …