A Munnich Selected Research

A Munnich Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

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