Marcus Deschauer Selected Research

Carnitine palmitoyl transferase 2 deficiency

1/2019	Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.
12/2012	Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
1/2005	Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

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Marcus Deschauer Research Topics

Disease

13	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 09/2003
8	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 01/2003
6	Muscular Diseases (Myopathy) 01/2022 - 04/2006
6	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2021 - 01/2019
3	Neuromuscular Diseases (Neuromuscular Disease) 06/2021 - 06/2006
3	Muscle Weakness 01/2019 - 12/2014
3	Glycogen Storage Disease Type II (Pompe's Disease) 07/2016 - 02/2010
3	Myalgia 12/2014 - 01/2005
2	Ataxia (Dyssynergia) 12/2021 - 01/2015
2	Muscular Atrophy (Muscle Atrophy) 01/2021 - 01/2019
2	Disease Progression 01/2021 - 02/2018
2	Glycogen Storage Disease Type V (McArdle's Disease) 02/2020 - 01/2003
2	Scoliosis 01/2020 - 01/2020
2	Myasthenia Gravis 02/2018 - 04/2006
2	MELAS Syndrome (Syndrome, MELAS) 01/2018 - 07/2011
2	Seizures (Absence Seizure) 12/2016 - 05/2016
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 05/2016 - 10/2005
2	Muscular Dystrophies (Muscular Dystrophy) 04/2015 - 01/2014
1	VEXAS syndrome 01/2022
1	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 10/2021
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 03/2021
1	Acquired Immunodeficiency Syndrome (AIDS) 03/2021
1	Body Weight (Weight, Body) 01/2021
1	Progressive Multifocal Leukoencephalopathy 01/2021
1	Congenital Abnormalities (Deformity) 01/2020
1	Muscle Spasticity (Spastic) 01/2020
1	Movement Disorders (Movement Disorder) 01/2020
1	Pain (Aches) 01/2019
1	Human Influenza (Influenza) 02/2018
1	Headache (Headaches) 01/2018
1	Peripheral Nervous System Diseases (PNS Diseases) 12/2016
1	Parkinson Disease (Parkinson's Disease) 12/2016
1	Status Epilepticus (Complex Partial Status Epilepticus) 12/2016
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 05/2016
1	Myoclonus (Nocturnal Myoclonus) 05/2016
1	Cerebellar Ataxia (Dysmetria) 05/2016
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2016
1	Cytochrome-c Oxidase Deficiency 12/2015
1	Ophthalmoplegia (External Ophthalmoplegia) 06/2015
1	Ataxia Neuropathy Spectrum 06/2015
1	Dysarthria (Spastic Dysarthria) 06/2015
1	Deglutition Disorders (Dysphagia) 04/2015
1	Cognitive Dysfunction 01/2015
1	Sensorineural Hearing Loss 01/2015
1	Cataract (Cataracts) 01/2015
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2014
1	Myofibrillar Myopathy 08/2014
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 05/2014
1	Type 2L Limb-Girdle Muscular Dystrophy 05/2014
1	Distal Myopathies (Distal Muscular Dystrophy) 05/2014
1	Polymyositis 02/2013
1	Dysferlinopathy 02/2013
1	Paresis (Hemiparesis) 12/2012
1	Rhabdomyolysis 12/2012

Drug/Important Bio-Agent (IBA)

14	Mitochondrial DNA (mtDNA)IBA 01/2020 - 09/2003
6	nusinersenIBA 01/2021 - 01/2019
4	Biomarkers (Surrogate Marker)IBA 10/2021 - 01/2018
4	Proteins (Proteins, Gene)FDA Link 01/2019 - 07/2011
3	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2019 - 01/2005
3	Lactic Acid (Lactate)FDA LinkGeneric 06/2006 - 01/2003
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2021 - 12/2014
2	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 02/2020 - 01/2003
2	NucleotidesIBA 01/2020 - 09/2003
2	AcidsIBA 07/2016 - 02/2010
2	DNA (Deoxyribonucleic Acid)IBA 04/2015 - 01/2004
2	AnoctaminsIBA 05/2014 - 01/2014
2	EnzymesIBA 02/2010 - 01/2004
1	GlycogenIBA 01/2022
1	Azacitidine (5 Azacytidine)FDA Link 01/2022
1	phosphatidylethanolamineIBA 12/2021
1	Protons (Proton)IBA 06/2021
1	pembrolizumabIBA 01/2021
1	CreatinineIBA 01/2021
1	HLA Antigens (Human Leukocyte Antigens)IBA 01/2021
1	MetalsIBA 01/2020
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2020
1	Pro Transfer RNAIBA 01/2020
1	Pharmaceutical PreparationsIBA 01/2020
1	CarbohydratesIBA 01/2019
1	Antisense OligonucleotidesIBA 01/2019
1	AntibodiesIBA 02/2018
1	Cholinergic ReceptorsIBA 02/2018
1	fibroblast growth factor 21IBA 01/2018
1	Growth Differentiation Factor 15IBA 01/2018
1	GlucosidasesIBA 07/2016
1	Lysine (L-Lysine)FDA Link 05/2016
1	Transfer RNA (tRNA)IBA 05/2016
1	Ala Transfer RNAIBA 12/2015
1	BariumIBA 04/2015
1	Asp Transfer RNAIBA 01/2015
1	Complementary DNA (cDNA)IBA 01/2014
1	SteroidsIBA 02/2013
1	deflazacortIBA 02/2013
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 11/2012

Therapy/Procedure

3	Therapeutics 03/2021 - 01/2020
1	Noninvasive Ventilation 03/2021
1	Spinal Fusion (Spondylosyndesis) 01/2020
1	Drug Tapering 01/2020
1	Electrodes (Electrode) 12/2016
1	Deep Brain Stimulation 12/2016