M Deschauer Selected Research

M Deschauer Research Topics

Disease

7	Glycogen Storage Disease Type II (Pompe's Disease) 01/2014 - 03/2008
5	Muscular Diseases (Myopathy) 08/2013 - 02/2006
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2011 - 08/2004
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 10/2009 - 01/2005
3	Type 2I Limb-Girdle Muscular Dystrophy 10/2006 - 08/2004
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 04/2013 - 11/2012
2	Muscle Weakness 12/2009 - 02/2006
2	Glycogen Storage Disease Type V (McArdle's Disease) 06/2007 - 12/2001
2	Brain Diseases (Brain Disorder) 06/2006 - 04/2003
2	Hearing Loss (Hearing Impairment) 11/2001 - 07/2000
1	Leukoencephalopathies 06/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2020
1	Fibrosis (Cirrhosis) 01/2020
1	Hyperventilation 01/2015
1	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 04/2013
1	Optic Nerve Diseases (Optic Neuropathy) 11/2012
1	Muscular Dystrophies (Muscular Dystrophy) 12/2011
1	Type 2L Limb-Girdle Muscular Dystrophy 12/2011
1	Miyoshi myopathy 12/2011
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 12/2009
1	Limb-girdle muscular dystrophy type 2A 07/2007
1	Oculopharyngeal Muscular Dystrophy 07/2006
1	Muscle Hypotonia (Hypotonia) 06/2006
1	Seizures (Absence Seizure) 06/2006
1	Myalgia 02/2006
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 05/2005
1	Stroke (Strokes) 08/2004
1	Respiratory Insufficiency (Respiratory Failure) 04/2004
1	Myasthenia Gravis 04/2004
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 04/2003
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 11/2001
1	Cardiomyopathies (Cardiomyopathy) 07/2000

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 04/2013 - 08/2004
5	Mitochondrial DNA (mtDNA)IBA 10/2009 - 11/2001
4	AcidsIBA 12/2013 - 03/2008
3	GlucosidasesIBA 12/2013 - 12/2008
3	EnzymesIBA 04/2013 - 11/2001
2	GlycogenIBA 01/2020 - 03/2008
2	AntibodiesIBA 01/2014 - 04/2004
2	alpha-Glucosidases (Acid Maltase)IBA 01/2010 - 03/2008
2	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 06/2007 - 12/2001
1	Retinaldehyde (Retinal)IBA 06/2020
1	Acetazolamide (Diamox)FDA LinkGeneric 01/2015
1	sigma Receptors (sigma Receptor)IBA 04/2013
1	IronIBA 11/2012
1	DysferlinIBA 12/2011
1	AnoctaminsIBA 12/2011
1	human GAA protein (Myozyme)FDA Link 01/2010
1	Ephedrine FDA LinkGeneric 12/2009
1	Dystroglycans (Dystroglycan)IBA 10/2006
1	Poly(A)-Binding Protein IIIBA 07/2006
1	polyalanineIBA 07/2006
1	Fumarate Hydratase (Fumarase)IBA 06/2006
1	Transfer RNA (tRNA)IBA 02/2006
1	Creatine Kinase (Creatine Phosphokinase)IBA 02/2006
1	Ala Transfer RNAIBA 02/2006
1	NucleotidesIBA 01/2005
1	muskIBA 04/2004
1	Codon (Codons)IBA 04/2003
1	Nonsense Codon (Nonsense Mutation)IBA 12/2001
1	DNA (Deoxyribonucleic Acid)IBA 07/2000

Therapy/Procedure

3	Enzyme Replacement Therapy 01/2014 - 01/2010
3	Therapeutics 12/2013 - 12/2009