Silvère M van der Maarel Selected Research

Facioscapulohumeral Muscular Dystrophy

12/2021	Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy.
9/2021	Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy.
1/2021	Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies.
1/2021	p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models.
10/2020	The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy.
10/2020	Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
1/2020	Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy.
1/2020	Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
11/2019	DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression.
10/2019	SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

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Silvère M van der Maarel Research Topics

Disease

20	Facioscapulohumeral Muscular Dystrophy 12/2021 - 08/2011
10	Myasthenia Gravis 01/2021 - 04/2012
8	Muscle Weakness 01/2021 - 04/2012
8	Oculopharyngeal Muscular Dystrophy 04/2014 - 01/2006
6	Muscular Diseases (Myopathy) 01/2021 - 06/2005
6	Alzheimer Disease (Alzheimer's Disease) 09/2015 - 05/2009
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 08/2010 - 06/2005
3	Neoplasms (Cancer) 12/2021 - 09/2009
3	Inborn Genetic Diseases (Disease, Hereditary) 09/2021 - 09/2014
3	variable Immunodeficiency syndrome 01/2019 - 06/2011
3	Cerebral Amyloid Angiopathy (Congophilic Angiopathy) 01/2018 - 10/2011
3	Muscular Dystrophies (Muscular Dystrophy) 05/2013 - 11/2010
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2021 - 01/2016
2	Autoimmune Diseases (Autoimmune Disease) 01/2021 - 01/2018
2	Disease Progression 01/2020 - 05/2013
2	Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome) 07/2013 - 09/2009
2	Dysferlinopathy 05/2013 - 06/2005
2	Small Cell Lung Carcinoma (Small Cell Lung Cancer) 02/2012 - 09/2009
1	Genomic Instability 12/2021
1	Proteostasis Deficiencies 01/2021
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2020
1	Rare Diseases (Rare Disease) 01/2020
1	Arhinia, choanal atresia, and microphthalmia 10/2019
1	Body Weight (Weight, Body) 01/2019
1	Intellectual Disability (Idiocy) 11/2018
1	Epilepsy (Aura) 11/2018
1	Central Serous Chorioretinopathy 11/2018
1	Hearing Loss (Hearing Impairment) 11/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Familial Cerebral Amyloid Angiopathy 01/2018
1	Inflammation (Inflammations) 01/2018
1	Rhabdomyosarcoma 01/2017
1	Hypersensitivity (Allergy) 01/2017
1	Muscular Atrophy (Muscle Atrophy) 01/2016
1	Amyloid Plaque 08/2015
1	Huntington Disease (Huntington's Disease) 03/2015
1	Late Onset Disorders 04/2014
1	Paralysis (Palsy) 04/2012

Drug/Important Bio-Agent (IBA)

19	Proteins (Proteins, Gene)FDA Link 12/2021 - 06/2005
11	AntibodiesIBA 01/2021 - 09/2009
9	ChromatinIBA 09/2021 - 06/2012
9	Immunoglobulin G (IgG)IBA 01/2021 - 04/2012
9	AutoantibodiesIBA 01/2021 - 04/2012
9	Phosphotransferases (Kinase)IBA 01/2021 - 04/2012
9	muskIBA 01/2021 - 12/2012
8	Transcription Factors (Transcription Factor)IBA 10/2020 - 04/2013
6	Alanine (L-Alanine)FDA Link 04/2014 - 04/2010
6	DysferlinIBA 05/2013 - 06/2005
5	Cholinergic ReceptorsIBA 01/2019 - 04/2012
4	Amyloid (Amyloid Fibrils)IBA 01/2018 - 01/2012
4	Poly(A)-Binding Protein IIIBA 04/2014 - 05/2009
3	RNA (Ribonucleic Acid)IBA 01/2019 - 08/2011
3	EpitopesIBA 01/2018 - 02/2016
3	Single-Domain AntibodiesIBA 08/2015 - 03/2015
3	Immunoglobulin FragmentsIBA 01/2012 - 06/2005
2	DNA (Deoxyribonucleic Acid)IBA 12/2021 - 08/2015
2	AntigensIBA 01/2021 - 02/2012
2	Amino Acids FDA Link 01/2018 - 05/2011
2	Acetylcholine (Acetylcholine Chloride)FDA Link 01/2017 - 04/2012
2	CalpainIBA 08/2010 - 06/2008
2	Carrier Proteins (Binding Protein)IBA 04/2010 - 01/2006
2	polyalanineIBA 05/2009 - 01/2006
1	Antisense OligonucleotidesIBA 12/2021
1	Adenine FDA LinkGeneric 09/2021
1	NucleotidesIBA 09/2021
1	Heterogeneous Nuclear Ribonucleoprotein A1IBA 01/2021
1	ElementsIBA 01/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 10/2019
1	Pharmaceutical PreparationsIBA 01/2019
1	LuciferasesIBA 01/2019
1	Monoclonal AntibodiesIBA 01/2019
1	neonatal Fc receptorIBA 01/2019
1	AgrinIBA 01/2019
1	Retinaldehyde (Retinal)IBA 11/2018
1	Adrenal Cortex Hormones (Corticosteroids)IBA 11/2018
1	Biological ProductsIBA 01/2018
1	Fc Receptors (Fc Receptor)IBA 01/2018
1	Adenosine Triphosphate (ATP)IBA 01/2018
1	Complement System Proteins (Complement)IBA 01/2018
1	CarbonIBA 01/2018
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2017
1	Transfer RNA (tRNA)IBA 01/2017
1	Small Interfering RNA (siRNA)IBA 01/2017
1	Peptides (Polypeptides)IBA 09/2015
1	Liposomes (Liposome)IBA 04/2015
1	Glutathione (Reduced Glutathione)IBA 04/2015
1	Huntingtin ProteinIBA 03/2015
1	polyglutamineIBA 03/2015
1	Proteasome Endopeptidase Complex (Proteasome)IBA 04/2014
1	UbiquitinIBA 04/2014
1	Poly(A)-Binding Proteins (Poly(A)-Binding Protein)IBA 06/2013
1	Fibronectins (Fibronectin)IBA 05/2013
1	IntegrinsIBA 05/2013
1	myasthenia gravis anti-skeletal muscle antibody (ASMA)IBA 12/2012
1	Immunoglobulins (Immunoglobulin)IBA 04/2012

Therapy/Procedure

3	Therapeutics 01/2020 - 08/2010
1	Prostatectomy (Retropubic Prostatectomy) 12/2021
1	Injections 01/2019