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C Minetti Selected Research

Collagen

3/2018Inflammatory myopathy in a patient with collagen VI mutations.

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C Minetti Research Topics

Disease

5Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2011 - 03/2000
31 Rippling muscle disease
01/2011 - 02/2004
2Muscular Diseases (Myopathy)
08/2017 - 01/2016
2Distal Myopathies (Distal Muscular Dystrophy)
01/2011 - 02/2004
2Muscular Dystrophies (Muscular Dystrophy)
05/2009 - 08/2000
2Glycogen Storage Disease Type IV (Andersen's Disease)
07/2007 - 09/2004
1Myositis (Idiopathic Inflammatory Myopathies)
03/2018
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
08/2017
1Generalized Epilepsy
05/2013
1Febrile Seizures (Febrile Seizure)
05/2013
1Long QT Syndrome
01/2011
1Heart Diseases (Heart Disease)
01/2011
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2011
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2011
1Cognitive Dysfunction
09/2010
15 Hypomyelinating Leukodystrophy
02/2008
1Leukoencephalopathies
02/2008
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2005
1Sialic Acid Storage Disease (Salla Disease)
12/2005
1Glycogen Storage Disease Type II (Pompe's Disease)
10/2005
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
08/2000
1Necrosis
08/2000
1Myoglobinuria
06/2000
1Myalgia
06/2000
1Type 1C Limb-Girdle Muscular Dystrophy
03/2000
1Muscle Weakness
03/2000

Drug/Important Bio-Agent (IBA)

7Caveolin 3IBA
01/2011 - 03/2000
21,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
07/2007 - 09/2004
2AmylopectinIBA
07/2007 - 09/2004
2Polysaccharides (Glycans)IBA
07/2007 - 09/2004
2GlycogenIBA
07/2007 - 10/2005
2Creatine Kinase (Creatine Phosphokinase)IBA
08/2000 - 03/2000
1CollagenIBA
03/2018
1Mitochondrial DNA (mtDNA)IBA
08/2017
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
01/2016
1Laminin (Merosin)IBA
09/2010
1Dystroglycans (Dystroglycan)IBA
05/2009
1GlycosyltransferasesIBA
05/2009
1Membrane Proteins (Integral Membrane Proteins)IBA
02/2008
1polyglucosanIBA
07/2007
1Lysosomal Membrane ProteinsIBA
12/2005
1N-Acetylneuraminic Acid (Sialic Acid)IBA
12/2005
1prolylleucineIBA
12/2000
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
06/2000
1Carnitine palmitoyl transferase 2 deficiencyIBA
06/2000

Therapy/Procedure

1Therapeutics
05/2013