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M Deschauer Selected Research

Type 2I Limb-Girdle Muscular Dystrophy

10/2006Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.
5/2005Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
8/2004[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene].

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M Deschauer Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

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