Marlène Rio Selected Research

Marlène Rio Research Topics

Disease

5	Neurodevelopmental Disorders 01/2024 - 01/2017
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 04/2014
4	Brain Diseases (Brain Disorder) 01/2023 - 06/2008
4	Epilepsy (Aura) 10/2022 - 06/2008
4	Intellectual Disability (Idiocy) 01/2018 - 05/2003
3	Microcephaly 10/2021 - 12/2009
2	Seizures (Absence Seizure) 10/2020 - 03/2008
2	Nervous System Diseases (Neurological Disorders) 10/2020 - 08/2011
2	Cardiomyopathies (Cardiomyopathy) 12/2018 - 01/2018
2	Deafness (Deaf Mutism) 12/2018 - 05/2016
2	Lactic Acidosis 12/2018 - 05/2016
2	Atrophy 01/2018 - 12/2014
2	Optic Nerve Diseases (Optic Neuropathy) 01/2017 - 12/2014
2	Coenzyme Q10 Deficiency 10/2013 - 06/2007
2	Marfan Syndrome (Marfan's Syndrome) 12/2009 - 11/2008
2	Loeys-Dietz Syndrome 12/2009 - 11/2008
1	Glut1 Deficiency Syndrome 04/2024
1	Hearing Loss (Hearing Impairment) 11/2023
1	Hypoglycemia (Reactive Hypoglycemia) 11/2023
1	Pontocerebellar Hypoplasia 01/2023
1	Autistic Disorder (Autism) 01/2022
1	Paraplegia (Spastic Paraplegia) 01/2021
1	Mitochondrial encephalopathy 01/2021
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2019
1	Retinal Diseases 01/2019
1	Infections 10/2018
1	Hypercholesterolemia 01/2018
1	Sensorineural Hearing Loss 01/2018
1	CHARGE Syndrome 01/2018
1	Congenital Heart Defects (Congenital Heart Defect) 01/2018
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2018
1	Cataract (Cataracts) 01/2018
1	Ganglion Cysts (Ganglion) 10/2017
1	Muscle Hypotonia (Hypotonia) 05/2016
1	Tuberous Sclerosis (Bourneville's Disease) 03/2016
1	Molybdenum cofactor deficiency 01/2016
1	Cardiomegaly (Heart Hypertrophy) 01/2016
1	Congenital Disorders of Glycosylation 08/2015
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2015
1	Leigh Disease (Leigh's Disease) 12/2014
1	Movement Disorders (Movement Disorder) 10/2013
1	Ataxia (Dyssynergia) 10/2013
1	Malformed Nails (Pachyonychia) 01/2012
1	Gingivitis 01/2012
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2012
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 11/2011

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2024 - 08/2011
5	Mitochondrial DNA (mtDNA)IBA 01/2021 - 04/2014
3	EnzymesIBA 01/2017 - 06/2007
2	Biomarkers (Surrogate Marker)IBA 04/2024 - 10/2023
2	UbiquinoneIBA 10/2013 - 06/2007
2	coenzyme Q10 (CoQ10)IBA 10/2013 - 06/2007
2	Transforming Growth Factor-beta Type II ReceptorIBA 12/2009 - 11/2008
2	Cyclin-Dependent Kinases (cdk Proteins)IBA 10/2008 - 06/2008
1	Lactic Acid (Lactate)FDA LinkGeneric 04/2024
1	ATP dependent 26S protease (26S proteasome)IBA 01/2024
1	ribosomal protein S2IBA 11/2023
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2023
1	GABA-A Receptors (GABA(A) Receptor)IBA 10/2022
1	Aminobutyrates (Aminobutyric Acid)IBA 10/2022
1	NucleotidesIBA 01/2022
1	Interferon Type IIBA 01/2022
1	HMGB1 Protein (HMG1)IBA 10/2021
1	Phenylalanine-tRNA LigaseIBA 01/2021
1	5-methyltetrahydrofolateIBA 10/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 10/2020
1	Folic Acid (Vitamin M)FDA LinkGeneric 10/2020
1	BESIBA 01/2019
1	Peptides (Polypeptides)IBA 01/2019
1	Protein Subunits (Protein Subunit)IBA 01/2019
1	nasIBA 01/2019
1	Protein Isoforms (Isoforms)IBA 12/2018
1	Lysine-tRNA LigaseIBA 12/2018
1	DNA (Deoxyribonucleic Acid)IBA 10/2018
1	Calcium Channels (Calcium Channel)IBA 01/2018
1	Lysine AcetyltransferasesIBA 01/2018
1	DipeptidesIBA 01/2018
1	adducinIBA 01/2018
1	CopperIBA 01/2018
1	Arginine (L-Arginine)FDA Link 01/2018
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018
1	atrophin-1IBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Glutamic Acid (Glutamate)FDA Link 01/2018
1	Carisoprodol (Soma)FDA LinkGeneric 10/2017
1	Casein Kinase II (Casein Kinase 2)IBA 01/2017
1	Transfer RNA (tRNA)IBA 05/2016
1	MethyltransferasesIBA 05/2016
1	Ribonuclease P (RNase P)IBA 05/2016
1	UbiquitinIBA 03/2016
1	Ligases (Synthetase)IBA 03/2016
1	Initiator Codon (Start Codon)IBA 01/2016
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2016
1	Polysaccharides (Glycans)IBA 08/2015
1	Apolipoprotein C-IIIIBA 08/2015
1	Aconitate Hydratase (Aconitase)IBA 12/2014
1	Nonsense Codon (Nonsense Mutation)IBA 01/2012
1	Ribosomal Proteins (Ribosomal Protein)IBA 11/2011
1	Valproic Acid (Depakote)FDA LinkGeneric 07/2010

Therapy/Procedure

2	Therapeutics 10/2013 - 06/2007