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A Munnich Selected Research

Smith-Magenis Syndrome

11/2003[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome].
1/2003Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome.
9/2001beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.
7/2001Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

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A Munnich Research Topics

Disease

10Mitochondrial Diseases (Mitochondrial Disease)
10/2010 - 04/2000
6Mental Retardation (Idiocy)
12/2013 - 04/2002
4Lactic Acidosis
04/2009 - 02/2000
4Leigh Disease (Leigh's Disease)
09/2008 - 02/2000
4Retinitis Pigmentosa (Pigmentary Retinopathy)
10/2007 - 05/2001
4Smith-Magenis Syndrome
11/2003 - 07/2001
4Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
10/2001 - 05/2000
3Ataxia (Dyssynergia)
10/2007 - 05/2001
3Developmental Bone Diseases (Bone Dysplasia)
09/2004 - 11/2001
3Friedreich Ataxia (Friedreich's Ataxia)
04/2002 - 02/2001
2Stroke (Strokes)
01/2011 - 10/2006
2Dwarfism
12/2010 - 10/2002
2Optic Atrophy
04/2009 - 01/2004
2Neoplasms (Cancer)
07/2008 - 08/2000
2Hirschsprung Disease (Hirschsprung's Disease)
01/2008 - 01/2000
2Cerebellar Ataxia (Dysmetria)
01/2008 - 11/2000
2Autosomal Recessive Polycystic Kidney (Polycystic Kidney Disease, Infantile, Type I)
01/2008 - 09/2000
2Hypoventilation
08/2007 - 05/2006
2Fever (Fevers)
05/2007 - 07/2005
2Seizures (Seizure)
01/2003 - 10/2000
2Cardiomyopathies (Cardiomyopathy)
11/2001 - 02/2001
2Liver Failure
09/2001 - 06/2001
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
07/2001 - 05/2001
2Tuberous Sclerosis (Bourneville's Disease)
04/2001 - 11/2000
2Craniosynostoses (Craniosynostosis)
03/2001 - 03/2000
2Acrocephalosyndactylia (Apert Syndrome)
03/2001 - 03/2000
2Congenital Disorders of Glycosylation
01/2001 - 02/2000
2Adrenal Insufficiency (Adrenal Gland Hypofunction)
11/2000 - 08/2000
2Esophageal Achalasia (Megaesophagus)
11/2000 - 08/2000
1Epilepsy (Aura)
12/2013
1Infantile Spasms (West Syndrome)
12/2013
1Protein Deficiency
08/2011
1Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2011
1Atrophy
10/2010
1Coronary Disease (Coronary Heart Disease)
12/2008
1Chronic Kidney Failure (Chronic Renal Failure)
09/2008
1Hepatomegaly
09/2008
1Liver Neoplasms (Liver Cancer)
09/2008
1Wounds and Injuries (Trauma)
01/2008
1Intestinal Obstruction (Obstruction, Intestinal)
01/2008
1Pathologic Constriction (Stenosis)
08/2007
1Hydrocephalus (Hydrocephaly)
08/2007
1Trismus (Lockjaw)
05/2007
1Muscular Diseases (Myopathy)
10/2006
1Fragile X Syndrome (Martin Bell Syndrome)
10/2006
1MELAS Syndrome (Syndrome, MELAS)
10/2006
1Inborn Genetic Diseases (Disease, Hereditary)
06/2006
1Fanconi Anemia (Fanconi's Anemia)
10/2005
1Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)
07/2005
1Inflammation
07/2005
1Psoriasis (Pustulosis Palmaris et Plantaris)
07/2005
1Osteitis
07/2005
1CHARGE Syndrome
08/2004
1Deafness (Deaf Mutism)
08/2004

Drug/Important Bio-Agent (IBA)

11Mitochondrial DNA (mtDNA)IBA
01/2011 - 04/2000
4MelatoninIBA
11/2003 - 07/2001
3Carrier Proteins (Binding Protein)IBA
12/2013 - 09/2000
3Prostaglandins D (PGD)IBA
01/2008 - 03/2006
3DNA (Deoxyribonucleic Acid)IBA
03/2001 - 09/2000
3Glycoproteins (Glycoprotein)IBA
01/2001 - 02/2000
2Leu Transfer RNAIBA
01/2011 - 10/2006
2Hirschsprung disease 1IBA
01/2008 - 01/2000
2IronIBA
01/2004 - 09/2001
2idebenoneIBA
04/2002 - 02/2001
2I-kappa B KinaseIBA
10/2001 - 09/2001
2HormonesIBA
09/2001 - 11/2000
2Retinaldehyde (Retinal)IBA
08/2001 - 05/2001
2DystrophinIBA
07/2001 - 05/2001
2tuberous sclerosis complex 1 protein (hamartin)IBA
04/2001 - 11/2000
2NF-kappa B (NF-kB)IBA
03/2001 - 05/2000
2Adrenocorticotropic Hormone (ACTH)FDA Link
11/2000 - 08/2000
2Achalasia Addisonianism Alacrimia syndromeIBA
11/2000 - 08/2000
1Qa-SNARE Proteins (Syntaxin)IBA
12/2013
1creatine transporterIBA
07/2013
1Complementary DNA (cDNA)IBA
08/2011
1Lys Transfer RNAIBA
01/2011
1pericentrinIBA
12/2010
1tranilast (N 5')IBA
10/2010
1Sulfite OxidaseIBA
10/2010
1Methylmalonic AcidIBA
04/2009
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
04/2009
1LDL Receptors (LDL Receptor)IBA
12/2008
1TransaminasesIBA
09/2008
1Methylmalonyl-CoA MutaseIBA
09/2008
1Sacral agenesisIBA
07/2008
1Currarino triadIBA
07/2008
1Growth Hormone (Somatotropin)IBA
02/2008
1Lactic AcidFDA LinkGeneric
01/2008
1ATP synthase subunit 6IBA
10/2007
1Cartilage-hair hypoplasiaIBA
08/2007
1Crisponi syndromeIBA
05/2007
1Mowat-Wilson syndromeIBA
05/2006
1Chronic recurrent multifocal osteomyelitisIBA
07/2005
1Majeed syndromeIBA
07/2005
1Kyphomelic dysplasiaIBA
09/2004
1Coloboma of optic nerveIBA
08/2004

Therapy/Procedure

2Sutures (Suture)
03/2001 - 03/2000
1Kidney Transplantation
09/2008
1Transplants (Transplant)
09/2008
1Transplantation (Transplant Recipients)
10/2005