H Lochmüller Selected Research

H Lochmüller Research Topics

Disease

14	Muscular Diseases (Myopathy) 01/2021 - 03/2000
9	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 02/2016 - 10/2002
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 06/2010 - 05/2000
5	Muscle Weakness 12/2009 - 10/2002
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2017 - 06/2001
4	Muscular Dystrophies (Muscular Dystrophy) 08/2011 - 05/2000
3	Disease Progression 08/2011 - 01/2000
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 06/2004 - 11/2002
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2021 - 10/2007
2	Nemaline Myopathies (Nemaline Myopathy) 03/2016 - 12/2002
2	Scleroatonic muscular dystrophy 01/2009 - 04/2008
2	Bethlem myopathy 01/2009 - 04/2008
2	Myotonic Dystrophy (Dystrophia Myotonica) 11/2008 - 10/2003
2	Ataxia (Dyssynergia) 01/2006 - 12/2005
2	Cytochrome-c Oxidase Deficiency 12/2005 - 12/2001
2	Ophthalmoplegia (External Ophthalmoplegia) 06/2004 - 10/2002
2	Lactic Acidosis 11/2002 - 03/2000
2	Inclusion Body Myositis 07/2001 - 02/2001
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 09/2019
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 08/2016
1	X-Linked Dominant Scapuloperoneal Myopathy 08/2016
1	Respiratory Insufficiency (Respiratory Failure) 02/2016
1	Inflammation (Inflammations) 06/2012
1	Myositis (Idiopathic Inflammatory Myopathies) 06/2012
1	Myofibrillar Myopathy 12/2011
1	Distal Myopathies (Distal Muscular Dystrophy) 12/2011
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2009
1	Muscle Hypotonia (Hypotonia) 12/2008
1	Myoclonic dystonia 05/2008
1	type 2B Limb-girdle muscular dystrophy 04/2008
1	Miyoshi myopathy 04/2008
1	Osteitis Deformans (Paget's Disease of Bone) 09/2007
1	Dementia (Dementias) 09/2007
1	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 09/2007
1	Frontotemporal Dementia (Semantic Dementia) 09/2007
1	Nonaka type Distal myopathy 08/2007
1	Myoglobinuria 01/2006
1	Glycogen Storage Disease Type V (McArdle's Disease) 01/2006
1	Seizures (Absence Seizure) 01/2006
1	Myopathy with Abnormal Lipid Metabolism 01/2006
1	Myotonia 01/2006
1	Leigh Disease (Leigh's Disease) 01/2006
1	Coma (Comas) 12/2005
1	Cardiac Arrhythmias (Arrythmia) 12/2005
1	Hearing Loss (Hearing Impairment) 12/2005
1	Metabolic Brain Diseases (Encephalopathy, Metabolic) 12/2005
1	Cataract (Cataracts) 12/2005
1	Apnea 01/2005
1	type 1B Limb-girdle muscular dystrophy 10/2003

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 08/2016 - 09/2001
4	Sarcoglycans (beta Sarcoglycan)IBA 06/2010 - 05/2000
4	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2005 - 12/2001
3	DystrophinIBA 12/2017 - 06/2001
3	Cholinesterase Inhibitors (Anticholinesterases)IBA 03/2016 - 06/2004
2	Mitochondrial DNA (mtDNA)IBA 09/2019 - 12/2005
2	Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric 03/2016 - 10/2002
2	peripheral membrane protein 43KIBA 02/2016 - 06/2003
2	Biomarkers (Surrogate Marker)IBA 01/2016 - 08/2011
2	CollagenIBA 01/2009 - 04/2008
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2006 - 12/2005
2	Genetic Markers (Genetic Marker)IBA 01/2006 - 08/2002
2	Cholinergic ReceptorsIBA 07/2005 - 10/2002
2	Codon (Codons)IBA 10/2003 - 07/2001
2	Messenger RNA (mRNA)IBA 10/2003 - 03/2003
2	Intravenous Immunoglobulins (IVIG)FDA Link 02/2001 - 01/2000
1	GlycogenIBA 01/2021
1	Systemic carnitine deficiencyIBA 01/2021
1	Cholinergic AgonistsIBA 02/2016
1	Nerve Growth Factor Receptors (Neurotrophin Receptors)IBA 06/2012
1	Nerve Growth Factors (Neurotrophins)IBA 06/2012
1	FilaminsIBA 12/2011
1	Matrix Metalloproteinase 9 (Gelatinase B)IBA 08/2011
1	Adrenal Cortex Hormones (Corticosteroids)IBA 08/2011
1	OsteopontinIBA 08/2011
1	muskIBA 12/2009
1	Ephedrine FDA LinkGeneric 12/2009
1	Mitochondrial Permeability Transition PoreIBA 01/2009
1	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2009
1	Chloride Channels (Chloride Channel)IBA 11/2008
1	DysferlinIBA 04/2008
1	Valosin Containing ProteinIBA 09/2007
1	N-acylmannosamine kinaseIBA 08/2007
1	AcetylglucosamineIBA 08/2007
1	Uridine Diphosphate (UDP)IBA 08/2007
1	Racemases and Epimerases (Epimerases and Racemases)IBA 08/2007
1	DesminIBA 06/2007
1	Dystroglycans (Dystroglycan)IBA 10/2006
1	Fluoxetine (Prozac)FDA LinkGeneric 05/2006
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2006
1	Gentamicins (Gentamicin)FDA LinkGeneric 01/2006
1	coenzyme Q10 (CoQ10)IBA 01/2006
1	FlavoproteinsIBA 01/2006
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 01/2006
1	Nonsense Codon (Nonsense Mutation)IBA 12/2005
1	Choline O-Acetyltransferase (Choline Acetyltransferase)IBA 01/2005
1	AcetylcholinesteraseIBA 06/2004
1	Ala Transfer RNAIBA 10/2003

Therapy/Procedure

6	Therapeutics 01/2021 - 10/2000
1	Enzyme Replacement Therapy 10/2007