Maria Lucia Valentino Selected Research

Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)

1/2018	Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
1/2017	Incomplete penetrance in mitochondrial optic neuropathies.
2/2014	Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
7/2013	The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
1/2012	Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
9/2011	Idebenone treatment in Leber's hereditary optic neuropathy.
5/2009	Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
4/2009	Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.
1/2008	Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis.
8/2007	Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

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Maria Lucia Valentino Research Topics

Disease

17	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2018 - 06/2002
12	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 10/2008
7	Optic Nerve Diseases (Optic Neuropathy) 01/2017 - 02/2008
7	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 01/2017 - 11/2004
5	Optic Atrophy 01/2020 - 02/2008
4	Mitochondrial Myopathies (Mitochondrial Myopathy) 12/2020 - 02/2008
4	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2018 - 02/2008
4	Deafness (Deaf Mutism) 07/2015 - 02/2008
3	Lactic Acidosis 10/2020 - 05/2009
3	MELAS Syndrome (Syndrome, MELAS) 10/2020 - 05/2009
3	Stroke (Strokes) 10/2020 - 05/2009
3	Atrophy 01/2012 - 03/2006
2	Migraine Disorders (Migraine) 10/2022 - 05/2013
2	Ganglion Cysts (Ganglion) 01/2022 - 09/2014
2	Deglutition Disorders (Dysphagia) 10/2021 - 08/2014
2	Wolfram Syndrome (Syndrome, Wolfram) 06/2020 - 01/2020
2	Muscular Diseases (Myopathy) 01/2019 - 08/2014
2	Parkinsonian Disorders (Parkinsonism) 01/2018 - 07/2015
2	Hearing Loss (Hearing Impairment) 01/2016 - 05/2013
2	Cognitive Dysfunction 07/2015 - 05/2013
2	Cataract (Cataracts) 08/2014 - 05/2009
2	Ataxia (Dyssynergia) 05/2013 - 02/2008
2	Friedreich Ataxia (Friedreich's Ataxia) 05/2009 - 01/2009
2	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 10/2008 - 03/2006
1	Headache (Headaches) 10/2022
1	Myofibrillar Myopathy 12/2021
1	Inclusion Body Myositis 10/2021
1	COVID-19 01/2021
1	Pain (Aches) 12/2020
1	Fatigue 12/2020
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 10/2020
1	Status Epilepticus (Complex Partial Status Epilepticus) 10/2020
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 10/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Macular Degeneration (Age-Related Maculopathy) 01/2020
1	Cytochrome-c Oxidase Deficiency 01/2018
1	Corticobasal Degeneration 01/2017
1	Dementia (Dementias) 07/2015
1	Peripheral Nervous System Diseases (PNS Diseases) 07/2015
1	CADASIL 06/2015
1	VLCAD deficiency 05/2015
1	Kearns-Sayre Syndrome 05/2015
1	Auditory neuropathy 03/2015
1	Mitochondrial encephalopathy 03/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 07/2013
1	Tremor (Tremors) 05/2013
1	Myoclonus (Nocturnal Myoclonus) 05/2013
1	Ophthalmoplegia (External Ophthalmoplegia) 05/2013
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2013
1	Lipoma (Lipomata) 05/2013
1	Muscle Weakness 05/2013
1	Seizures (Absence Seizure) 05/2013
1	Myalgia 05/2013
1	Cardiomyopathies (Cardiomyopathy) 05/2013
1	Brain Diseases (Brain Disorder) 01/2013
1	Dystonia (Limb Dystonia) 05/2009
1	Costeff optic atrophy syndrome 05/2009
1	Hereditary Spastic Paraplegia 05/2009
1	Hereditary Motor And Sensory Neuropathy VI 05/2009
1	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 05/2009

Drug/Important Bio-Agent (IBA)

30	Mitochondrial DNA (mtDNA)IBA 10/2020 - 02/2002
9	Retinaldehyde (Retinal)IBA 01/2022 - 01/2005
4	Adenosine Triphosphate (ATP)IBA 05/2011 - 02/2002
4	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2011 - 11/2004
3	Lactic Acid (Lactate)FDA LinkGeneric 10/2022 - 05/2011
2	Biomarkers (Surrogate Marker)IBA 12/2020 - 10/2020
2	fibroblast growth factor 21IBA 12/2020 - 10/2020
2	Creatine Kinase (Creatine Phosphokinase)IBA 12/2020 - 05/2013
2	CalciumIBA 06/2020 - 01/2020
2	idebenoneIBA 02/2013 - 09/2011
2	Phosphorus (Red Phosphorus)IBA 05/2011 - 01/2011
2	Dynamins (Dynamin)IBA 02/2008 - 11/2004
2	GTP Phosphohydrolases (GTPases)IBA 02/2008 - 11/2004
1	Analgesics (Analgesic Drugs)IBA 10/2022
1	AcidsIBA 10/2022
1	Proteins (Proteins, Gene)FDA Link 12/2021
1	AutoantibodiesIBA 10/2021
1	AntibodiesIBA 10/2021
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2021
1	GlucocorticoidsIBA 01/2021
1	Azithromycin (Zithromax)FDA LinkGeneric 01/2021
1	Low-Molecular-Weight Heparin (Heparin, Low Molecular Weight)IBA 01/2021
1	Transfer RNA (tRNA)IBA 10/2020
1	Growth Differentiation Factor 15IBA 10/2020
1	CeroidIBA 01/2017
1	DNA (Deoxyribonucleic Acid)IBA 01/2017
1	ProgranulinsIBA 01/2017
1	LipofuscinIBA 01/2017
1	Notch ReceptorsIBA 06/2015
1	Cytochromes b (Cytochrome b)IBA 08/2014
1	Estrogens (Estrogen)FDA Link 03/2014
1	Calcium Channels (Calcium Channel)IBA 01/2013
1	Carisoprodol (Soma)FDA LinkGeneric 01/2012
1	Glutamic Acid (Glutamate)FDA Link 05/2009
1	FrataxinIBA 01/2009
1	Thymidine PhosphorylaseIBA 10/2008

Therapy/Procedure

2	Therapeutics 01/2021 - 10/2020
2	Lasers (Laser) 01/2018 - 02/2014
1	Transplantation 01/2020
1	Cochlear Implantation 03/2015