Jean-Paul Bonnefont Selected Research

Jean-Paul Bonnefont Research Topics

Disease

3	Cystic Fibrosis (Mucoviscidosis) 01/2009 - 10/2003
2	Intellectual Disability (Idiocy) 11/2021 - 06/2013
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 09/2002
2	Propionic Acidemia 01/2018 - 09/2013
2	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 12/2017 - 02/2014
2	Inborn Urea Cycle Disorders 09/2017 - 01/2017
2	Lysinuric Protein Intolerance 04/2017 - 01/2017
2	Methylmalonic acidemia 09/2013 - 06/2010
2	MELAS Syndrome (Syndrome, MELAS) 05/2013 - 04/2011
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2013 - 04/2011
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2013 - 01/2007
2	Leigh Disease (Leigh's Disease) 01/2011 - 09/2002
1	Schizencephaly 01/2022
1	Polymicrogyria 01/2022
1	Mitochondrial encephalopathy 01/2021
1	Paraplegia (Spastic Paraplegia) 01/2021
1	Hypoventilation 01/2020
1	Epilepsy (Aura) 12/2019
1	Seizures (Absence Seizure) 12/2019
1	Autism Spectrum Disorder 01/2018
1	Congenital Abnormalities (Deformity) 01/2018
1	Hyperammonemia 09/2017
1	Ornithine Carbamoyltransferase Deficiency Disease 09/2017
1	Membranoproliferative Glomerulonephritis (Membranoproliferative Glomerulonephritis, Type II) 04/2017
1	Food Intolerance 01/2017
1	Metabolic Diseases (Metabolic Disease) 01/2017
1	Renal Insufficiency (Renal Failure) 01/2017
1	Lung Diseases (Lung Disease) 01/2017
1	Deafness (Deaf Mutism) 12/2016
1	Multiple Hamartoma Syndrome (Cowden's Disease) 05/2014
1	Diarrhea 03/2014
1	Lactic Acidosis 05/2013
1	Stroke (Strokes) 05/2013
1	Brain Diseases (Brain Disorder) 05/2013
1	Muscular Diseases (Myopathy) 05/2013
1	Optic Nerve Diseases (Optic Neuropathy) 01/2013
1	Retinal Dystrophies 01/2013
1	Rare Diseases (Rare Disease) 01/2013
1	Pulmonary Arterial Hypertension 04/2011
1	Aneuploidy (Aneuploid) 04/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 04/2011
1	Amyloid Neuropathies (Amyloid Neuropathy) 04/2011
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2010
1	Infections 01/2009
1	De Lange Syndrome (Cornelia De Lange Syndrome) 08/2006
1	Inflammation (Inflammations) 01/2006
1	Alpha-ketoglutarate dehydrogenase deficiency 03/2005
1	Nervous System Diseases (Neurological Disorders) 09/2002
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 09/2002

Drug/Important Bio-Agent (IBA)

5	Mitochondrial DNA (mtDNA)IBA 01/2021 - 09/2002
3	Prostaglandins DIBA 05/2014 - 04/2010
2	5' Untranslated Regions (5' UTR)IBA 11/2021 - 08/2006
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 02/2014
1	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2022
1	Phenylalanine-tRNA LigaseIBA 01/2021
1	Quinidine (Chinidin)FDA LinkGeneric 12/2019
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2018
1	Nonsense Codon (Nonsense Mutation)IBA 01/2018
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	hydracrylic acidIBA 01/2018
1	sharpinIBA 12/2017
1	Phosphotransferases (Kinase)IBA 12/2017
1	CreatinineIBA 09/2017
1	CitrullineIBA 09/2017
1	Glutamine (L-Glutamine)FDA Link 09/2017
1	Arginine (L-Arginine)FDA Link 09/2017
1	OrnithineIBA 09/2017
1	Orotic AcidIBA 09/2017
1	Transaminases (Aminotransferases)IBA 09/2017
1	Basic Amino Acid Transport SystemsIBA 04/2017
1	Immunologic Factors (Immunomodulators)IBA 04/2017
1	Amino Acids FDA Link 01/2017
1	DNA (Deoxyribonucleic Acid)IBA 12/2016
1	SodiumIBA 03/2014
1	NF-kappa B (NF-kB)IBA 02/2014
1	Fatty Acids (Saturated Fatty Acids)IBA 09/2013
1	Branched-Chain Amino AcidsIBA 09/2013
1	Ionotropic Glutamate ReceptorsIBA 06/2013
1	alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA 06/2013
1	IonsIBA 01/2013
1	Retinaldehyde (Retinal)IBA 01/2013
1	N 30IBA 04/2011
1	Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA 06/2010
1	Glutathione (Reduced Glutathione)IBA 01/2009
1	TransferasesIBA 01/2009
1	AntioxidantsIBA 01/2009
1	GTP Phosphohydrolases (GTPases)IBA 01/2007
1	Oxidants (Oxidizing Agents)IBA 01/2006
1	Peroxidase (Myeloperoxidase)IBA 01/2006
1	Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)IBA 03/2005
1	ChloridesIBA 10/2003
1	NucleotidesIBA 09/2002

Therapy/Procedure

1	Noninvasive Ventilation 01/2020
1	Therapeutics 12/2019