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 …
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 …
(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 …
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 …
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
In generalized myasthenia gravis (MG) patients without detectable acetylcholine receptor
(AChR) antibodies (SNMG), the thymus is often reported as “normally involuted.” We …
(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 …
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 …
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 …
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 …
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
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 …
dystrophy (DMD) over the past few years, the need for a frank and honest discussion …