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Eberhard Schwinger Selected Research

Infantile Epileptic-Dyskinetic Encephalopathy

6/2003Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

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Eberhard Schwinger Research Topics

Disease

3Intellectual Disability (Idiocy)
02/2006 - 06/2003
3Sarcoidosis (Schaumann Disease)
05/2005 - 11/2002
2Cerebellar Ataxia (Dysmetria)
08/2006 - 02/2003
2Spinocerebellar Ataxias (Spinocerebellar Ataxia)
07/2005 - 03/2002
2Ataxia (Dyssynergia)
01/2005 - 05/2004
2Albinism
06/2004 - 02/2004
2Oculocutaneous Albinism (Albinism, Yellow Mutant)
06/2004 - 02/2004
2Movement Disorders (Movement Disorder)
12/2002 - 11/2002
2Myoclonic dystonia
12/2002 - 11/2002
1Parkinson Disease (Parkinson's Disease)
09/2006
1Inborn Genetic Diseases (Disease, Hereditary)
02/2006
1Neurodegenerative Diseases (Neurodegenerative Disease)
07/2005
1Hemophilia A (Haemophilia)
03/2005
1Neurodevelopmental Disorders
12/2004
1Oculocutaneous albinism type 2
02/2004
1Hypopigmentation (Hypomelanosis)
02/2004
1Infantile Spasms (West Syndrome)
06/2003
1Infantile Epileptic-Dyskinetic Encephalopathy
06/2003
1Schizophrenia (Dementia Praecox)
03/2003
1Dementia (Dementias)
02/2003
1Dystonia (Limb Dystonia)
11/2002
1Dystonia musculorum deformans type 1
11/2002
1Parkinsonian Disorders (Parkinsonism)
08/2002
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
05/2002
1Retinal Dystrophies
01/2002
1Retinal Degeneration
01/2002

Drug/Important Bio-Agent (IBA)

2Prostaglandins DIBA
02/2006 - 03/2005
2TATA-Box Binding Protein (TATA-Binding Protein)IBA
07/2005 - 02/2003
2tributyl phosphate (TBP)IBA
07/2005 - 02/2003
2Monophenol Monooxygenase (Tyrosinase)IBA
06/2004 - 02/2004
2Proteins (Proteins, Gene)FDA Link
02/2004 - 06/2003
2Sarcoglycans (beta Sarcoglycan)IBA
12/2002 - 11/2002
1Leucine (L-Leucine)FDA Link
09/2006
1Phosphotransferases (Kinase)IBA
09/2006
1Cysteine (L-Cysteine)FDA Link
08/2006
1protein kinase C gamma (PRKCG)IBA
08/2006
1Iduronidase (alpha-L-Iduronidase)IBA
02/2006
1polyglutamineIBA
07/2005
1Transcription Factors (Transcription Factor)IBA
07/2005
1CC ChemokinesIBA
05/2005
1ButyrophilinsIBA
04/2005
1fibroblast growth factor 14IBA
01/2005
1Cyclin-Dependent Kinases (cdk Proteins)IBA
12/2004
1Amino AcidsFDA Link
12/2004
1Protein Kinases (Protein Kinase)IBA
12/2004
1DNA (Deoxyribonucleic Acid)IBA
06/2004
1Nonsense Codon (Nonsense Mutation)IBA
05/2004
1Melanins (Melanin)IBA
02/2004
1Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA
06/2003
1Biomarkers (Surrogate Marker)IBA
03/2003
1Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA
11/2002
1Dihydroxyphenylalanine (Dopa)IBA
08/2002
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
05/2002
1Ataxin-1IBA
03/2002
1c-Mer Tyrosine KinaseIBA
01/2002