Michel Koenig Selected Research

Coenzyme Q10 Deficiency

10/2013	Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
3/2008	ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

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Michel Koenig Research Topics

Disease

14	Ataxia (Dyssynergia) 05/2021 - 09/2003
11	Cerebellar Ataxia (Dysmetria) 01/2021 - 03/2008
8	Friedreich Ataxia (Friedreich's Ataxia) 01/2023 - 06/2002
6	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2016 - 06/2002
5	Shock 10/2023 - 07/2006
5	autosomal recessive 1 Spinocerebellar ataxia 12/2020 - 03/2004
4	Ataxia Telangiectasia (Louis Bar Syndrome) 12/2020 - 01/2005
3	Intellectual Disability (Idiocy) 01/2023 - 08/2010
3	Epilepsy (Aura) 01/2023 - 08/2010
3	Muscular Diseases (Myopathy) 01/2021 - 01/2018
3	Apraxias (Dyspraxia) 01/2018 - 03/2004
3	Atrophy 01/2013 - 03/2004
3	Cardiomyopathies (Cardiomyopathy) 02/2005 - 01/2003
2	Cystic Fibrosis (Mucoviscidosis) 01/2021 - 01/2020
2	Disease Progression 01/2020 - 06/2002
2	Fibrosis (Cirrhosis) 01/2020 - 01/2003
2	Movement Disorders (Movement Disorder) 10/2018 - 10/2013
2	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2018 - 01/2013
2	Coenzyme Q10 Deficiency 10/2013 - 03/2008
1	Neoplasms (Cancer) 01/2023
1	Fragile X Tremor Ataxia Syndrome 01/2023
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2023
1	Nasal Polyps (Nasal Polyp) 01/2021
1	Optic Nerve Diseases (Optic Neuropathy) 01/2021
1	Nemaline Myopathies (Nemaline Myopathy) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Medulloblastoma 01/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Minicore Myopathy with External Ophthalmoplegia 01/2020
1	Headache (Headaches) 01/2020
1	Neurologic Manifestations (Neurological Manifestations) 01/2020
1	Seizures (Absence Seizure) 01/2020
1	Hypoalbuminemia 01/2018
1	Muscular Dystrophies (Muscular Dystrophy) 01/2018
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2017
1	Spastic ataxia Charlevoix-Saguenay type 12/2015
1	recessive Spastic paraplegia type 5A 03/2015
1	Chromosomal Instability (Chromosome Stability) 09/2014
1	Tonic-Clonic Epilepsy (Epilepsy, Tonic Clonic) 02/2014
1	Ataxia Telangiectasia Like Disorder 01/2013
1	Karak Syndrome 01/2013
1	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile) 01/2013
1	Inflammation (Inflammations) 09/2010
1	Long Term Adverse Effects 09/2010
1	Pain (Aches) 09/2010
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 04/2009
1	Parkinsonian Disorders (Parkinsonism) 01/2009
1	Tremor (Tremors) 01/2009
1	Peripheral Nervous System Diseases (PNS Diseases) 07/2008

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 05/2021 - 04/2009
8	IronIBA 12/2016 - 01/2003
6	Biomarkers (Surrogate Marker)IBA 01/2023 - 12/2015
6	alpha-Fetoproteins (alpha-Fetoprotein)IBA 01/2021 - 03/2004
6	FrataxinIBA 05/2016 - 06/2002
4	coenzyme Q10 (CoQ10)IBA 01/2020 - 03/2008
4	DNA (Deoxyribonucleic Acid)IBA 10/2018 - 09/2003
4	Mitochondrial Proteins (Mitochondrial Protein)IBA 08/2009 - 06/2002
3	EnzymesIBA 01/2021 - 05/2004
3	ConnectinIBA 11/2020 - 01/2018
2	DiamondIBA 10/2023 - 04/2007
2	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2021 - 01/2016
2	Fetal Proteins (Fetoprotein)IBA 01/2018 - 09/2014
2	Immunoglobulins (Immunoglobulin)IBA 09/2014 - 01/2005
2	UbiquinoneIBA 10/2013 - 03/2008
2	SulfurIBA 08/2009 - 07/2009
2	AntioxidantsIBA 02/2005 - 05/2004
1	Antisense OligonucleotidesIBA 01/2023
1	SpectrinIBA 01/2023
1	polyglutamineIBA 01/2023
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2021
1	LipidsIBA 01/2021
1	MicroRNAs (MicroRNA)IBA 01/2021
1	Troponin T (Troponin T1)IBA 01/2021
1	Messenger RNA (mRNA)IBA 01/2020
1	Abatacept (Orencia)FDA Link 01/2020
1	GadoliniumIBA 01/2020
1	Myosins (Myosin)IBA 01/2020
1	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 01/2020
1	SolutionsIBA 10/2018
1	Serum AlbuminIBA 01/2018
1	nebulinIBA 01/2018
1	DystrophinIBA 01/2017
1	N-ethylcarbaminomethyl-L-isoleucine (A 145)IBA 07/2016
1	Adenosine Triphosphate (ATP)IBA 05/2016
1	Fatty Acids (Saturated Fatty Acids)IBA 03/2015
1	A 19IBA 02/2014
1	Vitamin E FDA LinkGeneric 01/2013
1	Chloride Channels (Chloride Channel)IBA 12/2010
1	CalciumIBA 12/2010
1	EndocannabinoidsIBA 09/2010
1	Nuclear Proteins (Protein, Nuclear)IBA 08/2010
1	DiglyceridesIBA 08/2010
1	Levodopa (L Dopa)FDA LinkGeneric 01/2009
1	Phosphotransferases (Kinase)IBA 03/2008
1	Lactic Acid (Lactate)FDA LinkGeneric 03/2008

Therapy/Procedure

4	Lasers (Laser) 09/2021 - 07/2006
3	Therapeutics 01/2023 - 10/2013
1	Precision Medicine 01/2021
1	Ligation 01/2019
1	Aftercare (After-Treatment) 08/2010