Magalie Barth Selected Research

Biomarkers (Surrogate Marker)

12/2015

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

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Magalie Barth Research Topics

Disease

4	Mitochondrial Diseases (Mitochondrial Disease) 04/2022 - 01/2017
2	Nervous System Diseases (Neurological Disorders) 12/2021 - 01/2021
2	Seizures (Absence Seizure) 07/2021 - 01/2021
2	Rhabdomyolysis 01/2021 - 11/2012
2	Epilepsy (Aura) 01/2021 - 01/2019
2	Phenylketonurias (Phenylketonuria) 01/2020 - 12/2015
2	MELAS Syndrome (Syndrome, MELAS) 01/2017 - 06/2012
1	Cardiomyopathies (Cardiomyopathy) 04/2022
1	Cataract and cardiomyopathy 04/2022
1	Barth Syndrome 04/2022
1	Movement Disorders (Movement Disorder) 01/2022
1	Metabolic Diseases (Metabolic Disease) 01/2022
1	Dyskinesias (Dyskinesia) 01/2022
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2021
1	Infantile Spasms (West Syndrome) 01/2021
1	Spasm (Spasms) 01/2021
1	Cardiac Arrhythmias (Arrythmia) 01/2021
1	Pyridoxine-dependent epilepsy 01/2021
1	Retinal Degeneration 01/2021
1	Optic Nerve Diseases (Optic Neuropathy) 01/2021
1	Starvation 01/2021
1	Ciliopathies 10/2020
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2018
1	Drug Resistant Epilepsy 01/2017
1	Stroke (Strokes) 01/2017
1	Glutathione synthetase deficiency 01/2016
1	Gastroenteritis 01/2016
1	Hemolysis 01/2016
1	Spastic ataxia Charlevoix-Saguenay type 12/2015
1	Neoplasms (Cancer) 04/2013
1	2-Hydroxyglutaricaciduria 04/2013
1	Myalgia 11/2012
1	Ethylmalonic encephalopathy 12/2010
1	Congenital Structural Myopathies (Centronuclear Myopathy) 06/2010
1	Methylmalonic acidemia 06/2010

Drug/Important Bio-Agent (IBA)

4	Mitochondrial DNA (mtDNA)IBA 01/2022 - 06/2012
3	Proteins (Proteins, Gene)FDA Link 10/2020 - 06/2010
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 01/2021
2	LipidsIBA 12/2021 - 01/2021
2	Ether (Diethyl Ether)IBA 12/2021 - 01/2021
1	Cardiolipins (Cardiolipin)IBA 04/2022
1	Phospholipids (Phosphatides)FDA LinkGeneric 04/2022
1	Caffeine (No Doz)FDA LinkGeneric 01/2022
1	Lamotrigine (Lamictal)FDA LinkGeneric 07/2021
1	Topiramate (Topamax)FDA LinkGeneric 07/2021
1	Anticonvulsants (Antiepileptic Drugs)IBA 07/2021
1	Valproic Acid (Depakote)FDA LinkGeneric 07/2021
1	Levetiracetam (Keppra)FDA LinkGeneric 07/2021
1	Aconitate Hydratase (Aconitase)IBA 01/2021
1	VitaminsIBA 01/2021
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 01/2021
1	Oxidoreductases (Dehydrogenase)IBA 01/2021
1	Phosphates (Orthophosphate)IBA 01/2021
1	Amino Acids FDA Link 01/2020
1	Sodium Channel BlockersIBA 01/2019
1	Pyridinolcarbamate (P23)IBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2017
1	Ketone BodiesIBA 01/2017
1	Glutathione Synthase (Glutathione Synthetase)IBA 01/2016
1	Pyrrolidonecarboxylic Acid (Pyroglutamic Acid)IBA 01/2016
1	EnzymesIBA 01/2016
1	AcidsIBA 01/2016
1	Acetaminophen (Paracetamol)FDA LinkGeneric 01/2016
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 12/2015
1	Coenzymes (Enzyme Cofactors)IBA 12/2015
1	sapropterin (tetrahydrobiopterin)FDA Link 12/2015
1	Biomarkers (Surrogate Marker)IBA 12/2015
1	alpha-hydroxyglutarateIBA 04/2013
1	citrate-binding transport proteinIBA 04/2013
1	N 30IBA 11/2012
1	Arginine (L-Arginine)FDA Link 06/2012
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 06/2012
1	DioxygenasesIBA 12/2010
1	Hydrogen Sulfide (Sulfide, Hydrogen)IBA 12/2010
1	Complementary DNA (cDNA)IBA 06/2010
1	amphiphysinIBA 06/2010
1	Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA 06/2010
1	Dynamin IIIBA 06/2010

Therapy/Procedure

2	Therapeutics 01/2017 - 06/2012
1	Critical Care (Surgical Intensive Care) 01/2021
1	Ketogenic Diet 01/2017
1	Ligation 12/2015