Valerio Carelli Selected Research

Dementia (Dementias)

7/2015	Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
1/2015	DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

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Valerio Carelli Research Topics

Disease

83	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 05/2024 - 01/2002
43	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 05/2002
26	Optic Nerve Diseases (Optic Neuropathy) 05/2024 - 05/2002
21	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 05/2024 - 01/2004
14	Optic Atrophy 01/2022 - 10/2004
11	Neoplasms (Cancer) 01/2022 - 05/2007
8	Ganglion Cysts (Ganglion) 01/2024 - 09/2014
8	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 07/2011
8	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2023 - 02/2008
8	Osteosarcoma (Osteogenic Sarcoma) 01/2021 - 10/2002
8	MELAS Syndrome (Syndrome, MELAS) 01/2021 - 07/2004
6	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2022 - 02/2008
5	Ataxia (Dyssynergia) 04/2024 - 02/2008
5	Blindness (Hysterical Blindness) 01/2023 - 12/2010
5	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022 - 05/2014
5	Stroke (Strokes) 01/2022 - 05/2009
5	Hypoxia (Hypoxemia) 01/2021 - 03/2010
5	Atrophy 01/2021 - 02/2002
4	Parkinson Disease (Parkinson's Disease) 01/2024 - 06/2005
4	Alzheimer Disease (Alzheimer's Disease) 01/2023 - 01/2016
4	Leigh Disease (Leigh's Disease) 01/2022 - 02/2002
4	Lactic Acidosis 01/2022 - 05/2009
4	Friedreich Ataxia (Friedreich's Ataxia) 01/2018 - 01/2009
4	Deafness (Deaf Mutism) 07/2015 - 02/2008
3	Peripheral Nervous System Diseases (PNS Diseases) 05/2024 - 07/2015
3	Cardiomyopathies (Cardiomyopathy) 05/2024 - 05/2013
3	Brain Diseases (Brain Disorder) 05/2024 - 01/2013
3	Cognitive Dysfunction 04/2024 - 05/2013
3	Deglutition Disorders (Dysphagia) 12/2023 - 08/2014
3	Inborn Genetic Diseases (Disease, Hereditary) 02/2023 - 03/2011
3	Migraine Disorders (Migraine) 10/2022 - 08/2010
3	Neuropathy ataxia and retinitis pigmentosa 12/2021 - 02/2002
3	Parkinsonian Disorders (Parkinsonism) 01/2018 - 07/2015
3	Hearing Loss (Hearing Impairment) 01/2016 - 05/2013
2	Disease Progression 05/2024 - 03/2012
2	Cerebellar Ataxia (Dysmetria) 04/2024 - 01/2022
2	Fatigue 01/2023 - 12/2020
2	Inflammation (Inflammations) 01/2023 - 01/2023
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 01/2022 - 05/2013
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2022 - 10/2020
2	Muscle Weakness 01/2022 - 05/2013
2	Narcolepsy 01/2022 - 06/2014
2	Kearns-Sayre Syndrome 12/2021 - 05/2015
2	Diabetic Retinopathy (Retinopathy, Diabetic) 01/2021 - 05/2005
2	Fibrosis (Cirrhosis) 01/2021 - 01/2021
2	Wolfram Syndrome (Syndrome, Wolfram) 06/2020 - 01/2020
2	Hereditary Spastic Paraplegia 06/2020 - 05/2009
2	Seizures (Absence Seizure) 01/2020 - 05/2013
2	Cataplexy 01/2020 - 06/2014
2	Myalgia 04/2019 - 05/2013
2	Muscular Diseases (Myopathy) 01/2019 - 08/2014
2	Nervous System Diseases (Neurological Disorders) 01/2018 - 05/2006
2	Breast Neoplasms (Breast Cancer) 01/2017 - 05/2007
2	Polyneuropathies (Polyneuropathy) 04/2016 - 02/2008
2	Dementia (Dementias) 07/2015 - 01/2015
2	Cerebellar Ataxia, Deafness, and Narcolepsy 01/2015 - 05/2014
2	Cataract (Cataracts) 08/2014 - 05/2009

Drug/Important Bio-Agent (IBA)

101	Mitochondrial DNA (mtDNA)IBA 03/2024 - 01/2002
31	Retinaldehyde (Retinal)IBA 05/2024 - 01/2005
13	Proteins (Proteins, Gene)FDA Link 05/2024 - 08/2006
10	idebenoneIBA 02/2024 - 09/2011
8	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 06/2006
8	melanopsinIBA 01/2023 - 08/2010
7	Biomarkers (Surrogate Marker)IBA 01/2023 - 08/2013
7	Adenosine Triphosphate (ATP)IBA 05/2011 - 02/2002
6	Lactic Acid (Lactate)FDA LinkGeneric 10/2022 - 08/2010
5	AntioxidantsIBA 01/2021 - 03/2005
5	Glutamic Acid (Glutamate)FDA Link 01/2020 - 10/2004
5	Electron Transport Complex I (NADH-CoQ Reductase)IBA 01/2017 - 03/2010
5	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2011 - 01/2004
4	EnzymesIBA 01/2024 - 03/2013
4	Amino Acids FDA Link 10/2023 - 11/2004
3	Thymidine PhosphorylaseIBA 08/2022 - 10/2008
3	RotenoneIBA 02/2022 - 08/2006
3	Glucose (Dextrose)FDA LinkGeneric 01/2017 - 02/2003
3	Reactive Oxygen Species (Oxygen Radicals)IBA 12/2015 - 01/2011
2	LipidsIBA 05/2024 - 01/2021
2	Aconitate Hydratase (Aconitase)IBA 01/2024 - 01/2021
2	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2023 - 01/2023
2	AcidsIBA 10/2022 - 01/2021
2	NADH DehydrogenaseIBA 01/2022 - 11/2004
2	OrexinsIBA 01/2022 - 06/2014
2	Alanine (L-Alanine)FDA Link 01/2021 - 05/2018
2	salicylhydroxamic acid (SHAM)IBA 01/2021 - 12/2020
2	Creatine Kinase (Creatine Phosphokinase)IBA 12/2020 - 05/2013
2	fibroblast growth factor 21IBA 12/2020 - 10/2020
2	CalciumIBA 06/2020 - 01/2020
2	MethyltransferasesIBA 01/2020 - 01/2020
2	Protons (Proton)IBA 01/2017 - 05/2006
2	FrataxinIBA 01/2017 - 01/2009
2	Estrogens (Estrogen)FDA Link 12/2015 - 03/2014
2	NucleotidesIBA 08/2014 - 06/2002
2	MelatoninIBA 06/2014 - 08/2010
2	Leu Transfer RNAIBA 01/2014 - 08/2010
2	Phosphorus (Red Phosphorus)IBA 05/2011 - 01/2011
2	Galactose (Galactopyranose)FDA LinkGeneric 01/2011 - 02/2003

Therapy/Procedure

15	Therapeutics 05/2024 - 02/2011
3	Lasers (Laser) 01/2022 - 02/2014
2	Enteral Nutrition (Feeding, Tube) 12/2023 - 01/2022
2	Intravitreal Injections 01/2021 - 12/2020