Annabelle Chaussenot Selected Research

Cardiomyopathies (Cardiomyopathy)

12/2019

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

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Annabelle Chaussenot Research Topics

Disease

6	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 10/2013
2	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2021 - 06/2012
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2017
2	Muscular Diseases (Myopathy) 01/2021 - 01/2017
1	Central Nervous System Cavernous Hemangioma 05/2024
1	Cerebellar Ataxia (Dysmetria) 11/2023
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2022
1	Deafness (Deaf Mutism) 12/2022
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 12/2022
1	Ataxia (Dyssynergia) 05/2021
1	Malignant Hyperthermia 01/2021
1	Central Core Myopathy (Central Core Disease) 01/2021
1	Cardiomyopathies (Cardiomyopathy) 12/2019
1	Xanthomatosis (Xanthoma) 08/2019
1	Cerebrotendinous Xanthomatosis 08/2019
1	Brain Diseases (Brain Disorder) 01/2017
1	Drug Resistant Epilepsy 01/2017
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2017
1	Coenzyme Q10 Deficiency 01/2016
1	Motor Neuron Disease (Primary Lateral Sclerosis) 12/2014
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 08/2014
1	Frontotemporal Dementia (Semantic Dementia) 08/2014
1	Late Onset Disorders 10/2013
1	Type 2A Charcot-Marie-Tooth disease 01/2012
1	Optic Atrophy 01/2012
1	Heart Failure 05/2011
1	Propionic Acidemia 05/2011

Drug/Important Bio-Agent (IBA)

9	Mitochondrial DNA (mtDNA)IBA 11/2023 - 01/2012
3	Proteins (Proteins, Gene)FDA Link 05/2021 - 01/2012
2	coenzyme Q10 (CoQ10)IBA 01/2016 - 05/2011
1	Complementary DNA (cDNA)IBA 05/2024
1	asparaginyl-tRNA synthetaseIBA 12/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2021
1	oligomycin sensitivity-conferring protein (complex V)IBA 12/2019
1	Cholic AcidIBA 08/2019
1	Bile Acids and Salts (Bile Acids)IBA 08/2019
1	EnzymesIBA 01/2017
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2017
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2017
1	O(4)-methylthymidine triphosphateIBA 12/2016
1	Codon (Codons)IBA 12/2014
1	Transfer RNA (tRNA)IBA 10/2013
1	OF 743IBA 10/2013
1	Dynamin IIIBA 06/2012
1	GTP Phosphohydrolases (GTPases)IBA 06/2012
1	UbiquinoneIBA 05/2011