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Articles by John Vissing
Management of Exacerbations and Rescue Therapy : A Prespecified Analysis of the Phase 3 Myasthenia Gravis Inebilizumab Randomized Clinical Trial
Management of Exacerbations and Rescue Therapy: A Prespecified Analysis of the Phase 3 Myasthenia Gravis Inebilizumab Randomized Clinical Trial Supplement 1. Supplement 2. eFigure 1. Number of Participants with Defined Components of Exacerbation during the MINT RCP eFigure 2. Annualized Exacerbation Rate eFigure 3. Swimmer Plots of Participants with Exacerbation during the MINT RCP eTable. Time to First Exacerbation by Week 26 (Full Analysis Set: MuSK+ Subpopulation) Supplement 3. Figure 1.
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy - European Journal of Human Genetics
Abstract Protein glycosylation defects can present with early-onset brain malformations and muscular dystrophy or milder, late-onset muscular dystrophy. Here, we report a new glycosylation defect with an atypical phenotype of late-onset, progressive, severe brain atrophy and muscular dystrophy in a 47-year-old man. Exome sequencing revealed a homozygous highly deleterious c.478G>T (p.G160W) variant in the B3GNT4 gene. A knock-in mouse model replicated the patient’s muscle histology.
Long-Term Patient Outcomes: The Role of Sustained Treatment Efficacy in Myasthenia Gravis
There have been great advances in the field of generalised myasthenia gravis (gMG) in recent years, but many patients remain dissatisfied with their disease state despite being on treatment. There is a growing consensus among specialists that minimising symptom burden, with sustained treatment efficacy, is the best way to improve outcomes. gMG is a chronic autoimmune disorder, characterised by fluctuating muscle weakness.
Epidemiology of myasthenia gravis in Denmark, Finland and Sweden: a population-based observational study
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Reimagining Myasthenia Gravis Care: Current Strategies and New Developments
Introduction MG is a rare immunoglobulin G (IgG) autoantibody-mediated disease, characterised by fluctuating weakness of the voluntary muscles.1 The weakness, which tends to worsen with activity as the day progresses,1 is caused by the pathogenic IgG-mediated disruption of cholinergic transmission at the neuromuscular junction.1,2 The majority of people with MG, around 85%, are AChR+, and up to 10% have antibodies against MuSK.3 Rarer forms of the condition are seronegative MG, in which no...
Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing
Corresponding Author Nicol C. Voermans MD, PhD Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands Correspondence Nicol C. Voermans, Radboud University Medical Centre, Neurology 664, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Email: nicol.voermans@radboudumc.nl Contribution: Conceptualization, Writing - original draft, Writing - review & editing Search for more papers by this author
Protecting and Preserving Dystrophic Muscle: The Balance Between Exercise and Contraction-Induced Muscle Injury
INTRODUCTION The rare diseases Duchenne and Becker are X-linked recessive neuromuscular disorders.1 They are characterised by progressive, irreversible weakness and atrophy of the skeletal muscles and of the heart.1,2 With an incidence of between one in every 3,500–5,000 male births, Duchenne is the more common phenotype. It is also the more severe.
Epidemiology of myasthenia gravis in Denmark, Finland and Sweden: a population-based observational study
Epidemiology of myasthenia gravis in Denmark, Finland and Sweden: a population-based observational study Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis
Abstract Objective To explore the clinical efficacy and safety of subcutaneous (SC) rozanolixizumab, an anti-neonatal Fc receptor humanized monoclonal antibody, in patients with generalized myasthenia gravis (gMG). Methods In this phase 2a, randomized, double-blind, placebo-controlled, 2-period, multicenter trial (NCT03052751), patients were randomized (1:1) in period 1 (days 1–29) to 3 once-weekly (Q1W) SC infusions of rozanolixizumab 7 mg/kg or placebo.
Paternal Inheritance of Mitochondrial DNA
Mammalian mitochondrial DNA (mtDNA) is thought to be strictly maternally inherited.1,2 Sperm mitochondria disappear in early embryogenesis by selective destruction, inactivation, or simple dilution by the vast surplus of oocyte mitochondria.3 Very small amounts of paternally inherited mtDNA have been detected by the polymerase chain reaction (PCR) in mice after several generations of interspecific backcrosses.4 Studies of such hybrids and of mouse oocytes microinjected with sperm support the...
Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?
Sir,We thank Drs Sáenz and López de Munain for their interest in our recently published paper describing a dominant transmission of calpainopathy associated with a muscle disease, resembling limb girdle muscular dystrophy type 2A (LGMD2A) (Vissing et al., 2016).
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