Lista de obras - Erik H. Niks - Dominio Público Uruguay

A transient neonatal myasthenic syndrome with anti-musk antibodies

artículo científico publicado en 2008

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

artículo científico publicado en 2014

An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts

artículo científico publicado en 2015

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome

artículo científico publicado en 2013

Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.

artículo científico publicado en 2016

Clinical fluctuations in MuSK myasthenia gravis are related to antigen-specific IgG4 instead of IgG1.

artículo científico publicado en 2008

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children

artículo científico publicado en 2013

Decreased cerebral perfusion in Duchenne muscular dystrophy patients.

artículo científico publicado en 2016

Decremental response of the nasalis and hypothenar muscles in myasthenia gravis

scientific article published on 01 August 2003

Detecting dysphagia in inclusion body myositis.

artículo científico publicado en 2009

Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report

artículo científico publicado en 2016

Epidemiology of myasthenia gravis with anti-muscle specific kinase antibodies in The Netherlands.

artículo científico publicado en 2006

Evaluation of skeletal muscle DTI in patients with duchenne muscular dystrophy.

artículo científico publicado en 2015

Fewer thymic changes in MuSK antibody-positive than in MuSK antibody-negative MG.

artículo científico publicado en 2005

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Geographical Distribution of Myasthenia Gravis in Northern Europe--Results from a Population-Based Study from Two Countries

artículo científico publicado en 2015

Herpes simplex virus type-1 encephalitis and occipital ischemic stroke

artículo científico publicado en 2009

IgG fc N-glycosylation changes in Lambert-Eaton myasthenic syndrome and myasthenia gravis.

artículo científico publicado en 2010

Improved olefinic fat suppression in skeletal muscle DTI using a magnitude-based dixon method.

artículo científico publicado en 2017

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.

artículo científico publicado en 2012

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

artículo científico publicado en 2016

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

artículo científico publicado en 2019

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

artículo científico publicado en 2013

MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy

scientific article published on 14 January 2020

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

scientific article published on 02 December 2013

Multi-parametric MR in Becker muscular dystrophy patients

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status.

artículo científico publicado en 2007

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

artículo científico publicado en 2016

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

scientific article published on 21 March 2020

Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody-binding epitopes in myasthenia gravis.

artículo científico publicado en 2013

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

artículo científico

Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia

artículo científico publicado en 2010

Prognostic factors for exacerbations and emergency treatments in myasthenia gravis

artículo científico publicado en 2015

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients.

artículo científico publicado en 2017

Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Reduced thymic expression of ErbB receptors without auto-antibodies against synaptic ErbB in myasthenia gravis.

artículo científico publicado en 2010

Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy.

artículo científico publicado en 2013

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

scientific journal article

Rotavirus-Induced Neonatal Epileptic Encephalopathy-A Disease Spectrum Illustrated by Monochorionic Twins

artículo científico publicado en 2019

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

artículo científico publicado en 2012

Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.

artículo científico publicado en 2013

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

artículo científico publicado en 2016

Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5

artículo científico publicado en 2006

T2 relaxation times are increased in Skeletal muscle of DMD but not BMD patients

artículo científico publicado en 2015

T2 relaxation-time mapping in healthy and diseased skeletal muscle using extended phase graph algorithms

scientific article published on 19 April 2020

The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates

artículo científico publicado en 2009

The expanding field of IgG4-mediated neurological autoimmune disorders

artículo científico

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Lista de obras de Erik H. Niks

A transient neonatal myasthenic syndrome with anti-musk antibodies

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome

Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.

Clinical fluctuations in MuSK myasthenia gravis are related to antigen-specific IgG4 instead of IgG1.

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children

Decreased cerebral perfusion in Duchenne muscular dystrophy patients.

Decremental response of the nasalis and hypothenar muscles in myasthenia gravis

Detecting dysphagia in inclusion body myositis.

Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report

Epidemiology of myasthenia gravis with anti-muscle specific kinase antibodies in The Netherlands.

Evaluation of skeletal muscle DTI in patients with duchenne muscular dystrophy.

Fewer thymic changes in MuSK antibody-positive than in MuSK antibody-negative MG.

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Geographical Distribution of Myasthenia Gravis in Northern Europe--Results from a Population-Based Study from Two Countries

Herpes simplex virus type-1 encephalitis and occipital ischemic stroke

IgG fc N-glycosylation changes in Lambert-Eaton myasthenic syndrome and myasthenia gravis.

Improved olefinic fat suppression in skeletal muscle DTI using a magnitude-based dixon method.

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

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

MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy

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

Multi-parametric MR in Becker muscular dystrophy patients

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

Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status.

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody-binding epitopes in myasthenia gravis.

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

Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia

Prognostic factors for exacerbations and emergency treatments in myasthenia gravis

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients.

Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy

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

Reduced thymic expression of ErbB receptors without auto-antibodies against synaptic ErbB in myasthenia gravis.

Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy.

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

Rotavirus-Induced Neonatal Epileptic Encephalopathy-A Disease Spectrum Illustrated by Monochorionic Twins

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5

T2 relaxation times are increased in Skeletal muscle of DMD but not BMD patients

T2 relaxation-time mapping in healthy and diseased skeletal muscle using extended phase graph algorithms

The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates

The expanding field of IgG4-mediated neurological autoimmune disorders

The landscape of epilepsy-related GATOR1 variants