Patrizia Amati-Bonneau Selected Research

COUP Transcription Factor I

1/2022

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

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Patrizia Amati-Bonneau Research Topics

Disease

13	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 06/2020 - 06/2003
10	Optic Nerve Diseases (Optic Neuropathy) 01/2021 - 02/2008
10	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2021 - 06/2008
8	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 10/2013
5	Optic Atrophy 01/2022 - 02/2008
4	Glaucoma 01/2019 - 10/2004
4	Deafness (Deaf Mutism) 10/2009 - 11/2007
3	Ganglion Cysts (Ganglion) 03/2019 - 02/2015
2	Intellectual Disability (Idiocy) 01/2022 - 01/2018
2	MELAS Syndrome (Syndrome, MELAS) 01/2017 - 06/2012
2	Brain Diseases (Brain Disorder) 01/2016 - 12/2014
2	Atrophy 02/2015 - 12/2014
2	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 02/2008 - 02/2008
2	Ataxia (Dyssynergia) 02/2008 - 02/2008
1	Retinal Degeneration 01/2021
1	Hereditary Spastic Paraplegia 06/2020
1	Spinocerebellar ataxia 28 06/2020
1	Hypopituitarism (Sheehan's Syndrome) 01/2020
1	Nervous System Diseases (Neurological Disorders) 10/2019
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 03/2019
1	Neurologic Manifestations (Neurological Manifestations) 03/2019
1	Visceral myopathy familial external ophthalmoplegia 01/2019
1	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Insulin Resistance 01/2018
1	Exfoliation Syndrome 01/2018
1	Neutropenia 11/2017
1	Congenital Bone Marrow Failure Syndromes 11/2017
1	Stroke (Strokes) 01/2017
1	Drug Resistant Epilepsy 01/2017
1	Late Onset Disorders 10/2013
1	Retinal Dystrophies 01/2013
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2013
1	Rare Diseases (Rare Disease) 01/2013
1	Type 2A Charcot-Marie-Tooth disease 05/2011
1	Peripheral Nervous System Diseases (PNS Diseases) 05/2011
1	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2010
1	Tuberculosis (Tuberculoses) 03/2010
1	Inherited Peripheral Neuropathy 02/2010
1	Type 2K Charcot-Marie-Tooth disease 04/2009
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 04/2009
1	Type 4A Charcot-Marie-Tooth disease 04/2009
1	Cataract (Cataracts) 06/2008
1	Polyneuropathies (Polyneuropathy) 02/2008
1	Ophthalmoplegia (External Ophthalmoplegia) 02/2008
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 02/2008
1	Hearing Loss (Hearing Impairment) 11/2007
1	Sensorineural Hearing Loss 11/2007

Drug/Important Bio-Agent (IBA)

24	Mitochondrial DNA (mtDNA)IBA 01/2021 - 11/2007
7	Dynamins (Dynamin)IBA 10/2019 - 06/2003
7	Proteins (Proteins, Gene)FDA Link 11/2017 - 02/2008
6	GTP Phosphohydrolases (GTPases)IBA 10/2019 - 06/2003
4	Retinaldehyde (Retinal)IBA 08/2021 - 01/2013
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2020 - 07/2012
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 02/2015
3	Amino Acids FDA Link 01/2018 - 11/2016
2	Niacinamide (Nicotinamide)FDA LinkGeneric 01/2021 - 01/2019
2	Taurine FDA Link 01/2021 - 01/2019
2	Aconitate Hydratase (Aconitase)IBA 01/2021 - 12/2014
2	SpermineIBA 01/2019 - 01/2018
2	SpermidineIBA 01/2018 - 11/2016
2	PolyaminesIBA 01/2018 - 01/2018
2	EnzymesIBA 01/2017 - 12/2014
2	DNA (Deoxyribonucleic Acid)IBA 01/2009 - 10/2004
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 02/2008 - 02/2008
1	COUP Transcription Factor IIBA 01/2022
1	m-AAA proteasesIBA 06/2020
1	Hormones (Hormone)IBA 01/2020
1	Thymidine PhosphorylaseIBA 01/2019
1	purineIBA 01/2018
1	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2018
1	Protein Isoforms (Isoforms)IBA 01/2018
1	Guanosine Triphosphate (GTP)IBA 01/2018
1	Signal Recognition ParticleIBA 11/2017
1	DiamondIBA 11/2017
1	Carisoprodol (Soma)FDA LinkGeneric 10/2017
1	Ketone BodiesIBA 01/2017
1	Carnitine (L-Carnitine)FDA LinkGeneric 11/2016
1	PutrescineIBA 11/2016
1	Phosphatidylcholines (Phosphatidylcholine)IBA 11/2016
1	SphingomyelinsIBA 11/2016
1	propionylcarnitineIBA 11/2016
1	Oxidoreductases (Dehydrogenase)IBA 11/2015
1	ubiquinolIBA 11/2015
1	OF 743IBA 10/2013
1	Transfer RNA (tRNA)IBA 10/2013
1	IonsIBA 01/2013
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 06/2012
1	Arginine (L-Arginine)FDA Link 06/2012
1	Membrane Proteins (Integral Membrane Proteins)IBA 05/2011
1	ElementsIBA 10/2010
1	Pharmaceutical PreparationsIBA 03/2010
1	Ethambutol (Myambutol)FDA LinkGeneric 03/2010
1	Leu Transfer RNAIBA 11/2007
1	12S ribosomal RNAIBA 11/2007
1	Ser Transfer RNAIBA 11/2007

Therapy/Procedure

2	Therapeutics 01/2017 - 06/2012
1	Ketogenic Diet 01/2017