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Charles Schwartz Selected Research

Spermine Synthase

1/2016Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
9/2013A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
10/2009The impact of spermine synthase (SMS) mutations on brain morphology.

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Charles Schwartz Research Topics

Disease

4Snyder Robinson syndrome
01/2016 - 10/2009
3X-Linked Mental Retardation (Mental Retardation, X Linked)
10/2009 - 08/2007
2Intellectual Disability (Idiocy)
01/2017 - 11/2016
1Kabuki syndrome
01/2017
1ATR-X syndrome
01/2017
1Atrial Fibrillation
06/2014
1Ventricular Remodeling
06/2014
1Microcephaly
04/2008
1Epilepsy (Aura)
04/2008
1Angelman Syndrome (Syndrome, Angelman)
04/2008
1Ataxia (Dyssynergia)
04/2008
1Borjeson-Forssman-Lehmann syndrome
12/2004
1Right Ventricular Dysfunction
07/2004
1Cardiogenic Shock
07/2004
1Acquired Immunodeficiency Syndrome (AIDS)
06/2003
1Chronic Disease (Chronic Diseases)
06/2003

Drug/Important Bio-Agent (IBA)

3Spermine SynthaseIBA
01/2016 - 10/2009
2DNA (Deoxyribonucleic Acid)IBA
11/2016 - 04/2008
2Proteins (Proteins, Gene)FDA Link
01/2016 - 08/2007
1O-GlcNAc transferaseIBA
01/2017
1Histone MethyltransferasesIBA
01/2017
1AcetylglucosamineIBA
01/2017
1Amino AcidsFDA Link
01/2017
1ChromatinIBA
01/2017
1Histones (Histone)IBA
01/2017
1SpermineIBA
03/2011
1PolyaminesIBA
03/2011
1SpermidineIBA
03/2011
1Sodium-Hydrogen ExchangersIBA
04/2008
1Transcription Factors (Transcription Factor)IBA
12/2004
1Pharmaceutical PreparationsIBA
06/2003
1Complex MixturesIBA
06/2003

Therapy/Procedure

2Therapeutics
06/2014 - 06/2003
1Thrombolytic Therapy
07/2004
1Palliative Care (Palliative Therapy)
06/2003
1Ambulatory Care (Outpatient Care)
06/2003
1Activities of Daily Living (ADL)
06/2003