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A Munnich Selected Research

Reactive Oxygen Species (Oxygen Radicals)

12/2010Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

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A Munnich Research Topics

Disease

6Inborn Genetic Diseases (Disease, Hereditary)
10/2007 - 09/2002
5Brain Diseases (Brain Disorder)
12/2013 - 06/2001
5Retinitis Pigmentosa (Pigmentary Retinopathy)
10/2007 - 09/2000
4Lactic Acidosis
04/2009 - 02/2000
4Leigh Disease (Leigh's Disease)
09/2008 - 02/2000
4Smith-Magenis Syndrome
11/2003 - 07/2001
4Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
10/2001 - 05/2000
3Intellectual Disability (Idiocy)
12/2013 - 04/2002
3Mitochondrial Diseases (Mitochondrial Disease)
12/2010 - 04/2000
3Ataxia (Dyssynergia)
10/2007 - 05/2001
3Friedreich Ataxia (Friedreich's Ataxia)
04/2002 - 02/2001
2Stroke (Strokes)
01/2011 - 10/2006
2Methylmalonic acidemia
04/2009 - 09/2008
2Optic Atrophy
04/2009 - 01/2004
2Autosomal Recessive Polycystic Kidney (Polycystic Kidney Disease, Infantile, Type I)
01/2008 - 09/2000
2MELAS Syndrome (Syndrome, MELAS)
10/2006 - 03/2003
2Cardiomyopathies (Cardiomyopathy)
11/2001 - 02/2001
2Liver Failure
09/2001 - 06/2001
2Leber Congenital Amaurosis
08/2001 - 05/2001
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
07/2001 - 05/2001
2Tuberous Sclerosis (Bourneville's Disease)
04/2001 - 11/2000
2Acrocephalosyndactylia (Apert Syndrome)
03/2001 - 03/2000
2Craniosynostoses (Craniosynostosis)
03/2001 - 03/2000
2Congenital Disorders of Glycosylation
01/2001 - 02/2000
2Esophageal Achalasia (Megaesophagus)
11/2000 - 08/2000
2Adrenal Insufficiency (Adrenal Gland Hypofunction)
11/2000 - 08/2000
2Achalasia Addisonianism Alacrimia syndrome
11/2000 - 08/2000
1Infantile Spasms (West Syndrome)
12/2013
1Epilepsy (Aura)
12/2013
1Infantile Epileptic-Dyskinetic Encephalopathy
12/2013
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
08/2011
1Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2011
1Type II Microcephalic Osteodysplastic Primordial Dwarfism
12/2010
1Vision Disorders (Hemeralopia)
04/2009
1Coronary Disease (Coronary Heart Disease)
12/2008
1Chronic Kidney Failure (Chronic Renal Failure)
09/2008
1Hepatomegaly
09/2008
1Cerebellar Ataxia (Dysmetria)
01/2008
1Wounds and Injuries (Trauma)
01/2008
1Neuropathy ataxia and retinitis pigmentosa
10/2007
1Crisponi syndrome
05/2007
1Fragile X Syndrome (Martin Bell Syndrome)
10/2006
1Muscular Diseases (Myopathy)
10/2006
1Agenesis of Cerebellar Vermis
02/2006
1Fanconi Anemia (Fanconi's Anemia)
10/2005
1Cognitive Dysfunction
08/2004
1succinic semialdehyde dehydrogenase deficiency
08/2004
1Spinal muscular atrophy with respiratory distress 1
05/2004
1Pyle disease
05/2004

Drug/Important Bio-Agent (IBA)

10Mitochondrial DNA (mtDNA)IBA
01/2011 - 04/2000
8Proteins (Proteins, Gene)FDA Link
01/2004 - 08/2000
7Prostaglandins DIBA
01/2008 - 09/2002
4MelatoninIBA
11/2003 - 07/2001
3Carrier Proteins (Binding Protein)IBA
12/2013 - 09/2000
3EnzymesIBA
01/2011 - 03/2000
3DNA (Deoxyribonucleic Acid)IBA
02/2006 - 09/2000
3Nonsense Codon (Nonsense Mutation)IBA
05/2004 - 08/2000
3Glycoproteins (Glycoprotein)IBA
01/2001 - 02/2000
2Leu Transfer RNAIBA
01/2011 - 10/2006
2NADH DehydrogenaseIBA
01/2004 - 03/2003
2IronIBA
01/2004 - 09/2001
2Biological ProductsIBA
11/2003 - 06/2001
2idebenoneIBA
04/2002 - 02/2001
2Pharmaceutical PreparationsIBA
04/2002 - 06/2001
2I-kappa B KinaseIBA
10/2001 - 09/2001
2Hormones (Hormone)IBA
09/2001 - 11/2000
2Retinaldehyde (Retinal)IBA
08/2001 - 05/2001
2DystrophinIBA
07/2001 - 05/2001
2Tuberous Sclerosis Complex 1 ProteinIBA
04/2001 - 11/2000
2NF-kappa B (NF-kB)IBA
03/2001 - 05/2000
2coenzyme Q10 (CoQ10)IBA
02/2001 - 07/2000
2Adrenocorticotropic Hormone (ACTH)FDA Link
11/2000 - 08/2000
1Qa-SNARE Proteins (Syntaxin)IBA
12/2013
1X-linked Creatine deficiencyIBA
07/2013
1Complementary DNA (cDNA)IBA
08/2011
1Citrate (si)-Synthase (Synthase, Citrate)IBA
01/2011
1Lys Transfer RNAIBA
01/2011
1CalciumIBA
12/2010
1pericentrinIBA
12/2010
1Reactive Oxygen Species (Oxygen Radicals)IBA
12/2010
1Adenosine Triphosphate (ATP)IBA
12/2010
1Amino Acid Transport System X-AG (Glutamate Transporter)IBA
08/2009
1Glutamic Acid (Glutamate)FDA Link
08/2009
1Methylmalonic AcidIBA
04/2009
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
04/2009
1oxidized low density lipoproteinIBA
12/2008
1LDL Receptors (LDL Receptor)IBA
12/2008
1Transaminases (Aminotransferases)IBA
09/2008
1Lactic Acid (Lactate)FDA LinkGeneric
01/2008
1ATP synthase subunit 6IBA
10/2007
1Cytokine Receptors (Cytokine Receptor)IBA
05/2007
1OSM-LIF ReceptorsIBA
05/2007
1Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
08/2004
14-hydroxybutyric acidIBA
08/2004
1gamma-Aminobutyric Acid (GABA)IBA
08/2004
1Immunoglobulins (Immunoglobulin)IBA
05/2004

Therapy/Procedure

2Sutures (Suture)
03/2001 - 03/2000
1Kidney Transplantation
09/2008
1Stem Cell Transplantation
10/2005
1Transplantation
10/2005