Guy A Rouleau Selected Research

Intellectual Disability (Idiocy)

5/2017	Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
1/2017	FOXP1-related intellectual disability syndrome: a recognisable entity.
1/2015	Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
11/2014	Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model.
11/2013	Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
2/2013	Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
7/2012	Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
6/2009	De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
2/2009	Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
12/2008	Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

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Guy A Rouleau Research Topics

Disease

25	Bipolar Disorder (Manic Depressive Psychosis) 02/2024 - 04/2004
24	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2023 - 10/2004
16	Schizophrenia (Dementia Praecox) 07/2022 - 02/2003
15	Parkinson Disease (Parkinson's Disease) 01/2021 - 09/2011
13	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 10/2003
12	Oculopharyngeal Muscular Dystrophy 04/2019 - 08/2003
10	Intellectual Disability (Idiocy) 05/2017 - 12/2008
9	Restless Legs Syndrome (Restless Legs) 01/2021 - 01/2004
9	Epilepsy (Aura) 05/2017 - 06/2002
9	Autistic Disorder (Autism) 05/2016 - 01/2005
7	Mood Disorders (Mood Disorder) 01/2021 - 12/2011
6	Corpus callosum agenesis neuronopathy 10/2017 - 11/2002
6	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 01/2016 - 09/2008
5	Inflammation (Inflammations) 01/2020 - 03/2006
4	Psychotic Disorders (Schizoaffective Disorder) 12/2023 - 01/2020
4	Movement Disorders (Movement Disorder) 08/2022 - 11/2014
4	Nervous System Diseases (Neurological Disorders) 01/2021 - 09/2012
4	Dementia (Dementias) 01/2020 - 09/2012
4	Pain (Aches) 01/2017 - 09/2007
4	Idiopathic Generalized Epilepsy 01/2015 - 06/2002
4	Migraine with Aura (Familial Hemiplegic Migraine) 10/2012 - 10/2010
4	Juvenile Myoclonic Epilepsy 10/2005 - 06/2002
3	Essential Tremor (Essential Tremors) 08/2022 - 12/2016
3	Genetic Risk Score 07/2022 - 01/2019
3	Ataxia (Dyssynergia) 01/2020 - 09/2012
3	Neurodevelopmental Disorders 10/2019 - 10/2011
3	Hereditary Spastic Paraplegia 01/2019 - 06/2007
3	Autism Spectrum Disorder 01/2018 - 01/2015
3	Neoplasms (Cancer) 01/2017 - 01/2013
3	Frontotemporal Dementia (Semantic Dementia) 06/2013 - 08/2004
3	Angioedema 11/2011 - 10/2005
3	Muscular Dystrophies (Muscular Dystrophy) 02/2010 - 10/2003
3	Cardiovascular Diseases (Cardiovascular Disease) 04/2009 - 09/2005
3	Generalized Epilepsy with Febrile Seizures Plus 10/2005 - 02/2003
2	Gliosis 01/2023 - 09/2011
2	Disease Progression 01/2023 - 01/2013
2	Tremor (Tremors) 08/2022 - 08/2014
2	Synucleinopathies 01/2022 - 01/2017
2	Cognitive Dysfunction 01/2022 - 04/2020
2	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 12/2021 - 10/2019
2	Major Depressive Disorder (Major Depressive Disorders) 12/2021 - 11/2016
2	Mental Disorders (Mental Disorder) 01/2021 - 01/2016
2	Cerebellar Ataxia (Dysmetria) 01/2020 - 06/2015
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2020 - 06/2011
2	Agenesis of Corpus Callosum 10/2019 - 01/2013
2	Alzheimer Disease (Alzheimer's Disease) 02/2018 - 01/2018
2	Neuralgia (Stump Neuralgia) 01/2017 - 03/2016
2	REM Sleep Behavior Disorder 01/2017 - 11/2014
2	Seizures (Absence Seizure) 11/2016 - 06/2002
2	Congenital Pain Insensitivity 03/2016 - 11/2014
2	Sleep Wake Disorders 11/2014 - 07/2011
2	Late Onset Disorders 10/2014 - 04/2005
2	Microcephaly 10/2013 - 01/2013

Drug/Important Bio-Agent (IBA)

46	Proteins (Proteins, Gene)FDA Link 01/2023 - 10/2003
24	LithiumIBA 02/2024 - 04/2004
11	polyalanineIBA 04/2019 - 10/2003
9	DNA (Deoxyribonucleic Acid)IBA 11/2016 - 12/2003
8	Nonsense Codon (Nonsense Mutation)IBA 11/2018 - 11/2010
7	K Cl- CotransportersIBA 10/2017 - 11/2002
6	Biomarkers (Surrogate Marker)IBA 08/2022 - 08/2010
6	Poly(A)-Binding Protein IIIBA 04/2019 - 04/2005
6	UbiquitinIBA 01/2019 - 10/2003
6	Potassium Chloride FDA LinkGeneric 10/2017 - 09/2008
6	Potassium Channels (Potassium Channel)IBA 10/2012 - 09/2005
5	Synapsins (Synapsin I)IBA 11/2016 - 01/2012
5	EnzymesIBA 10/2016 - 09/2005
4	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2023 - 09/2011
4	Glucosylceramidase (Glucocerebrosidase)IBA 10/2016 - 09/2011
4	Messenger RNA (mRNA)IBA 06/2016 - 09/2008
4	Protein Isoforms (Isoforms)IBA 11/2015 - 09/2012
4	Ion Channels (Ion Channel)IBA 08/2015 - 09/2005
4	Immunoglobulin E (IgE)IBA 01/2015 - 06/2002
4	Superoxide Dismutase-1IBA 10/2013 - 12/2007
3	Dopamine (Intropin)FDA LinkGeneric 01/2021 - 03/2008
3	Antipsychotic Agents (Antipsychotics)IBA 01/2020 - 02/2003
3	CalciumIBA 01/2020 - 12/2008
3	RNA (Ribonucleic Acid)IBA 04/2019 - 11/2015
3	gamma-Aminobutyric Acid (GABA)IBA 06/2016 - 06/2002
3	ChloridesIBA 01/2015 - 09/2005
3	IronIBA 01/2013 - 10/2007
3	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 11/2011 - 09/2005
3	3' Untranslated Regions (3' UTR)IBA 01/2011 - 12/2003
3	Nuclear Proteins (Protein, Nuclear)IBA 02/2010 - 04/2005
3	Sodium Channels (Sodium Channel)IBA 10/2005 - 02/2003
2	Amino Acids FDA Link 04/2023 - 05/2016
2	Glutamic Acid (Glutamate)FDA Link 11/2022 - 01/2017
2	polyglutamineIBA 01/2020 - 06/2011
2	SpectrinIBA 01/2020 - 07/2012
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2020 - 01/2019
2	SynucleinsIBA 01/2019 - 11/2014
2	Ligases (Synthetase)IBA 01/2019 - 05/2015
2	Apolipoproteins E (ApoE)IBA 01/2018 - 01/2017
2	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 05/2017 - 11/2016
2	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2017 - 11/2010
2	Chromogranin BIBA 11/2016 - 12/2009
2	Aminobutyrates (Aminobutyric Acid)IBA 06/2016 - 03/2016
2	DNA HelicasesIBA 05/2016 - 01/2013
2	Arginine (L-Arginine)FDA Link 05/2015 - 11/2012
2	Voltage-Gated Sodium ChannelsIBA 11/2014 - 02/2003

Therapy/Procedure

6	Therapeutics 01/2023 - 01/2017