Markus Schuelke Selected Research

Spinal muscular atrophy with respiratory distress 1

1/2009	Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
2/2008	Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
8/2007	Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
9/2004	Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
12/2003	Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

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Markus Schuelke Research Topics

Disease

7	Muscular Diseases (Myopathy) 01/2021 - 04/2014
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 07/2005
5	Spinal muscular atrophy with respiratory distress 1 01/2009 - 12/2003
4	Lactic Acidosis 01/2019 - 04/2008
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2016 - 03/2005
3	Muscle Weakness 01/2021 - 01/2008
3	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2018
3	Atrophy 01/2018 - 02/2008
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2021
2	Deafness (Deaf Mutism) 01/2021 - 01/2017
2	Intellectual Disability (Idiocy) 01/2020 - 04/2014
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019 - 04/2008
2	Brain Diseases (Brain Disorder) 12/2017 - 04/2008
2	Coenzyme Q10 Deficiency 01/2017 - 01/2017
2	Fibrosis (Cirrhosis) 01/2016 - 03/2005
2	Respiratory Insufficiency (Respiratory Failure) 11/2014 - 02/2008
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 07/2014 - 02/2008
2	Leigh Disease (Leigh's Disease) 04/2011 - 12/2006
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 10/2010 - 02/2007
2	Neurofibromatosis 1 (Neurofibromatosis Type I) 12/2007 - 06/2007
1	Hepatolenticular Degeneration (Wilson's Disease) 01/2022
1	Autoimmune Diseases of the Nervous System 01/2022
1	Astrocytoma (Pilocytic Astrocytoma) 01/2022
1	Myopathy with Abnormal Lipid Metabolism 01/2022
1	Leukoencephalopathies 01/2022
1	Taeniasis 12/2021
1	recessive Cutis laxa 01/2021
1	Contracture 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Cutis Laxa 01/2021
1	Encephalitis (Encephalitis, Rasmussen) 09/2020
1	Nervous System Diseases (Neurological Disorders) 09/2020
1	Tuberous Sclerosis (Bourneville's Disease) 09/2020
1	Allan-Herndon-Dudley syndrome 06/2020
1	Alopecia (Baldness) 01/2020
1	Alacrima 01/2020
1	Cohen syndrome 01/2020
1	Hypohidrosis 01/2020
1	Myasthenia Gravis 01/2020
1	Ataxia (Dyssynergia) 03/2019
1	Tremor (Tremors) 03/2019
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 03/2019
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2019
1	2-Hydroxyglutaricaciduria 01/2019
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2019
1	Pontocerebellar Hypoplasia 11/2017
1	Pyruvate Dehydrogenase Complex Deficiency Disease 11/2017
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2017
1	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2017
1	Renal Insufficiency (Renal Failure) 01/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2016
1	Canavan Disease (Leukodystrophy, Spongiform) 09/2015

Drug/Important Bio-Agent (IBA)

6	Immunoglobulins (Immunoglobulin)IBA 01/2022 - 12/2003
6	Proteins (Proteins, Gene)FDA Link 09/2020 - 07/2005
5	Carrier Proteins (Binding Protein)IBA 01/2009 - 12/2003
4	Mitochondrial DNA (mtDNA)IBA 10/2010 - 02/2007
3	RNA (Ribonucleic Acid)IBA 12/2021 - 03/2005
3	EnzymesIBA 01/2021 - 12/2006
3	Messenger RNA (mRNA)IBA 07/2014 - 03/2005
2	Thyroid HormonesIBA 01/2022 - 06/2020
2	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 01/2021
2	SpectrinIBA 01/2021 - 01/2017
2	Proline (L-Proline)FDA Link 01/2021 - 01/2019
2	AntibodiesIBA 09/2020 - 02/2014
2	Exosome Multienzyme Ribonuclease ComplexIBA 01/2018 - 11/2017
2	Sulfides (Thioethers)IBA 01/2017 - 01/2017
2	DystrophinIBA 01/2016 - 12/2012
2	MyostatinIBA 08/2014 - 06/2004
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2022
1	CopperIBA 01/2022
1	Surface Antigens (Surface Antigen)IBA 09/2020
1	AntigensIBA 09/2020
1	TOR Serine-Threonine KinasesIBA 09/2020
1	Immunoglobulin G (IgG)IBA 09/2020
1	Mechanistic Target of Rapamycin Complex 1IBA 09/2020
1	AutoantibodiesIBA 09/2020
1	UbiquitinIBA 09/2020
1	Ligases (Synthetase)IBA 09/2020
1	Complement System Proteins (Complement)IBA 01/2020
1	Mitochondrial Complex III DeficiencyIBA 01/2020
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 01/2020
1	TabletsIBA 03/2019
1	Glutamine (L-Glutamine)FDA Link 01/2019
1	ATP Translocases Mitochondrial ADPIBA 01/2019
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018
1	Alkaline PhosphataseIBA 12/2017
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 11/2017
1	AcetyltransferasesIBA 01/2017
1	Acetyl Coenzyme A (Acetyl-CoA)IBA 01/2017
1	Glutathione (Reduced Glutathione)IBA 01/2017
1	Hexosaminidases (Hexosaminidase)IBA 01/2017
1	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 01/2017
1	3-hydroxyisobutyryl-CoA hydrolaseIBA 11/2016
1	Troponin T (Troponin T1)IBA 04/2016
1	Peptide Hydrolases (Proteases)FDA Link 01/2016
1	N-acetylaspartate (N-acetyl aspartate)IBA 09/2015

Therapy/Procedure

2	Drug Therapy (Chemotherapy) 12/2021 - 03/2019
2	Therapeutics 08/2014 - 06/2013
1	Plasmapheresis 01/2022