Margot A Cousin Selected Research

Malignant hyperthermia susceptibility type 1

5/2017

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

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Margot A Cousin Research Topics

Disease

2	Cytopenia 01/2019 - 01/2018
2	Kleefstra Syndrome 03/2017 - 01/2017
2	Loeys-Dietz Syndrome 01/2017 - 01/2017
2	Tobacco Use Disorder (Nicotine Dependence) 12/2015 - 01/2014
1	Infections 01/2022
1	Pneumonia (Pneumonitis) 01/2022
1	Granuloma 01/2022
1	Hemolysis 01/2021
1	Thrombotic Microangiopathies 01/2021
1	Pre-Eclampsia (Preeclampsia) 01/2021
1	Eclampsia 01/2021
1	HELLP Syndrome 01/2021
1	Undiagnosed Diseases 01/2021
1	Autism Spectrum Disorder 01/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020
1	Congenital Bone Marrow Failure Syndromes 01/2019
1	Epilepsy (Aura) 11/2018
1	IgA Deficiency 01/2018
1	Sotos Syndrome 01/2018
1	Fibrosis (Cirrhosis) 01/2018
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2018
1	Bone Marrow Failure Disorders 01/2018
1	Congenital Structural Myopathies (Centronuclear Myopathy) 05/2017
1	Muscular Diseases (Myopathy) 05/2017
1	Minicore Myopathy with External Ophthalmoplegia 05/2017
1	Central Core Myopathy (Central Core Disease) 05/2017
1	Malignant hyperthermia susceptibility type 1 05/2017
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 05/2017
1	Marfan Syndrome (Marfan's Syndrome) 01/2017
1	Neoplasms (Cancer) 01/2017
1	Neurodevelopmental Disorders 01/2017
1	Tremor (Tremors) 12/2016
1	Dystonia (Limb Dystonia) 12/2016
1	Alexander Disease (Alexander's Disease) 01/2016
1	Parkinson Disease (Parkinson's Disease) 12/2015
1	Erectile Dysfunction 12/2015
1	Triploidy 02/2010

Drug/Important Bio-Agent (IBA)

3	Transforming Growth Factor-beta Type II ReceptorIBA 01/2017 - 01/2017
2	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2018
2	Complement System Proteins (Complement)IBA 01/2021 - 02/2010
2	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2017
2	Histones (Histone)IBA 03/2017 - 01/2017
2	Phosphotransferases (Kinase)IBA 01/2017 - 01/2017
2	Pharmaceutical PreparationsIBA 12/2015 - 01/2014
1	Oxidants (Oxidizing Agents)IBA 01/2022
1	EnzymesIBA 01/2021
1	Biological ProductsIBA 01/2021
1	Complement C5 (Complement 5)IBA 01/2021
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	RNA Polymerase IIIIBA 01/2020
1	2,5- dibromo- 2- (beta- naphthyl)indan- 1,3- dioneIBA 01/2019
1	N 30IBA 01/2019
1	CalciumIBA 11/2018
1	CarboxypeptidasesIBA 01/2018
1	Histone MethyltransferasesIBA 01/2018
1	MethyltransferasesIBA 01/2018
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 01/2018
1	Immunoglobulin M (IgM)IBA 01/2018
1	Danazol (Azol)FDA LinkGeneric 01/2018
1	CollagenIBA 01/2018
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 05/2017
1	Phospholipid Transfer ProteinsIBA 12/2016
1	Protein AggregatesIBA 01/2016
1	Dopamine Agonists (Dopamine Agonist)IBA 12/2015
1	Apomorphine FDA Link 12/2015
1	Nicotine FDA Link 12/2015

Therapy/Procedure

3	Precision Medicine 01/2021 - 01/2016
1	Lung Transplantation 01/2018
1	Therapeutics 01/2018
1	Hip Replacement Arthroplasty (Total Hip Replacement) 12/2016