Joseph D Buxbaum Selected Research

Telomeric 22q13 Monosomy Syndrome

11/2020	Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats.
1/2020	Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
1/2018	Shank3-deficient rats exhibit degraded cortical responses to sound.
12/2015	Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
1/2015	Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.
1/2014	A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.
4/2013	Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay.
5/2012	Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice.

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Joseph D Buxbaum Research Topics

Disease

24	Alzheimer Disease (Alzheimer's Disease) 01/2020 - 02/2003
21	Autistic Disorder (Autism) 10/2021 - 04/2004
12	Schizophrenia (Dementia Praecox) 01/2022 - 10/2002
9	Autism Spectrum Disorder 10/2021 - 04/2008
9	Intellectual Disability (Idiocy) 01/2021 - 06/2007
8	Neurodevelopmental Disorders 01/2022 - 01/2017
8	Telomeric 22q13 Monosomy Syndrome 11/2020 - 05/2012
8	Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder) 01/2020 - 10/2009
4	Dementia (Dementias) 01/2020 - 03/2009
3	Mental Disorders (Mental Disorder) 01/2022 - 01/2006
3	Wounds and Injuries (Trauma) 01/2018 - 09/2014
3	Epilepsy (Aura) 01/2017 - 02/2011
3	Neuroblastoma 02/2016 - 08/2004
2	Nervous System Diseases (Neurological Disorders) 01/2017 - 02/2016
2	Brain Diseases (Brain Disorder) 01/2017 - 02/2016
2	Parkinsonian Disorders (Parkinsonism) 12/2013 - 09/2013
2	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 12/2011 - 11/2009
2	Hypercholesterolemia 08/2007 - 04/2002
2	Cognitive Dysfunction 06/2007 - 10/2003
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Birth Weight (Birth Weights) 01/2019
1	Geographic Atrophy 01/2018
1	Blindness (Hysterical Blindness) 01/2018
1	Macular Degeneration (Age-Related Maculopathy) 01/2018
1	Bipolar Disorder (Manic Depressive Psychosis) 01/2017
1	Endotoxemia 07/2014
1	Septic Shock (Toxic Shock Syndrome) 07/2014
1	Sepsis (Septicemia) 07/2014
1	Fragile X Syndrome (Martin Bell Syndrome) 05/2014
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2013
1	Seizures (Absence Seizure) 12/2013
1	Tremor (Tremors) 12/2013

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2003
9	Apolipoproteins E (ApoE)IBA 01/2020 - 11/2004
7	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2013
6	GlucocorticoidsIBA 01/2020 - 10/2009
5	DNA (Deoxyribonucleic Acid)IBA 12/2020 - 01/2006
5	Biological ProductsIBA 10/2020 - 10/2011
4	ApolipoproteinsIBA 09/2014 - 01/2010
4	Kv Channel-Interacting Proteins (Calsenilin)IBA 12/2011 - 10/2004
4	Messenger RNA (mRNA)IBA 12/2010 - 04/2005
4	Amyloid beta-PeptidesIBA 03/2009 - 02/2003
3	LipidsIBA 09/2019 - 04/2012
3	Amyloid (Amyloid Fibrils)IBA 01/2019 - 03/2009
3	RNA (Ribonucleic Acid)IBA 01/2018 - 02/2016
3	Insulin (Novolin)FDA Link 01/2015 - 04/2013
3	PresenilinsIBA 12/2011 - 10/2004
3	aspartate-glutamate carrierIBA 05/2010 - 04/2004
2	Glutamate Receptors (Glutamate Receptor)IBA 01/2022 - 01/2019
2	SandIBA 01/2021 - 06/2017
2	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2021 - 01/2017
2	Transcription Factors (Transcription Factor)IBA 01/2021 - 08/2006
2	CytokinesIBA 01/2019 - 01/2018
2	Carrier Proteins (Binding Protein)IBA 01/2019 - 04/2005
2	Glucocorticoid Receptors (Glucocorticoid Receptor)IBA 09/2014 - 10/2009
2	EnzymesIBA 12/2013 - 12/2006
2	Glutamic Acid (Glutamate)FDA Link 04/2013 - 01/2011
2	Carnitine (L-Carnitine)FDA LinkGeneric 05/2012 - 03/2012
2	Amyloid Precursor Protein Secretases (beta-Secretase)IBA 12/2011 - 08/2004
2	Dopamine (Intropin)FDA LinkGeneric 01/2011 - 02/2010
2	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2011 - 10/2009
1	Sp4 Transcription FactorIBA 01/2022
1	NucleotidesIBA 10/2021
1	Apolipoprotein E4IBA 01/2020
1	Apolipoprotein E2IBA 01/2020
1	Guanosine Diphosphate (GDP)IBA 01/2020
1	Unithiol (DMPS)IBA 01/2019
1	postsynaptic density proteinsIBA 01/2019
1	Dexamethasone (Maxidex)FDA LinkGeneric 01/2019
1	Hormones (Hormone)IBA 01/2019
1	alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA 01/2019
1	Adenosine Triphosphate (ATP)IBA 12/2018
1	ProteomeIBA 12/2018
1	Neurotransmitter Agents (Neurotransmitter)IBA 12/2018
1	diazonaphthalenedisulfonic acid (NDS)IBA 01/2018
1	Retroelements (Retrotransposon)IBA 01/2018
1	InterferonsIBA 01/2018
1	InflammasomesIBA 01/2018
1	Mitogen-Activated Protein KinasesIBA 01/2018
1	Retinaldehyde (Retinal)IBA 01/2018
1	ElementsIBA 01/2018
1	Interferon Type IIBA 01/2018
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 02/2016
1	3' Untranslated Regions (3' UTR)IBA 02/2016
1	ras ProteinsIBA 07/2015
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 06/2015
1	Threonine (L-Threonine)FDA Link 02/2015
1	Alanine (L-Alanine)FDA Link 02/2015
1	ChromatinIBA 11/2014
1	EndotoxinsIBA 07/2014
1	P-2 (P 2)IBA 05/2014
1	Sodium Channels (Sodium Channel)IBA 03/2014
1	Tryptophan (L-Tryptophan)FDA Link 12/2013
1	Pharmaceutical PreparationsIBA 12/2013
1	Nonsense Codon (Nonsense Mutation)IBA 12/2013
1	KynurenineIBA 12/2013
1	Phosphatidylinositols (Phosphatidylinositol)IBA 09/2013

Therapy/Procedure

4	Therapeutics 01/2022 - 10/2002
2	Precision Medicine 01/2022 - 01/2021
1	Drug Therapy (Chemotherapy) 01/2018