V. Carelli

V. Carelli, A. Sadun, F. Ross-Cisneros, 2011, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Myelin, mitochondria, and autoimmunity

V. Carelli, M. Bellan, 2008, Neurology.

Short communication Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis

D. Gambi, A. Urbani, G. Federici, 2008 .

Inhibition of mitochondrial function induces an integrated stress response in oligodendroglia

G. Cortopassi, V. Carelli, A. Wong, 2009, Neurobiology of Disease.

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy

P. Barboni, C. La Morgia, R. Santarelli, 2019, Frontiers in Neuroscience.

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

C. La Morgia, V. Carelli, R. Liguori, 2022, Journal of Neurology.

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

B. Barbiroli, V. Clementi, P. Barboni, 2005, Annals of neurology.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American Journal of Human Genetics.

The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria.

A. Ghelli, V. Carelli, H. Mclennan, 1996, Archives of biochemistry and biophysics.

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy

P. Barboni, M. Carbonelli, C. La Morgia, 2020, Annals of clinical and translational neurology.

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management

N. Newman, P. Yu-Wai-Man, V. Biousse, 2022, The Lancet Neurology.

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

H. Prokisch, C. La Morgia, Leah Fleming, 2022, Brain : a journal of neurology.

Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy

L. Schmetterer, P. Barboni, M. Carbonelli, 2022, Investigative ophthalmology & visual science.

Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

J. Sahel, N. Newman, M. Moster, 2021, International ophthalmology clinics.

Editorial: Hereditary Optic Neuropathies: A New Perspective

C. La Morgia, V. Carelli, R. Karanjia, 2021, Frontiers in Neurology.

Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies

Molly Scannell Bryan, J. Sahel, N. Newman, 2021, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

C. La Morgia, E. Lamantea, V. Carelli, 2021, Frontiers in Neurology.

Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study

J. Sahel, N. Newman, M. Moster, 2021, Eye.

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

P. Barboni, C. La Morgia, V. Carelli, 2016, Brain : a journal of neurology.

197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission – OPA1 and MFN2 molecular mechanisms and therapeutic strategies 26–28 April 2013, Naarden, The Netherlands

P. Chinnery, P. Yu-Wai-Man, V. Carelli, 2014, Neuromuscular Disorders.

Medical Management of Hereditary Optic Neuropathies

P. Barboni, M. Carbonelli, C. La Morgia, 2014, Front. Neurol..

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options.

C. La Morgia, V. Carelli, A. Sadun, 2013, Current opinion in neurology.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

M. Zeviani, G. Savini, P. Barboni, 2013, Brain : a journal of neurology.

C URRENT OPINION Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options

V. Carelli, A. Sadun, C. Morgia, 2013 .

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

V. Carelli, R. Liguori, M. Valentino, 2012, Neurology.

Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy.

J. Sebag, V. Carelli, A. Sadun, 2012, Investigative ophthalmology & visual science.

Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber’s hereditary optic neuropathy

V. Carelli, A. Sadun, A. Berezovsky, 2010, Documenta Ophthalmologica.

Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids

A. Martinuzzi, M. Montopoli, V. Carelli, 2008, Journal of neuroscience research.

Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?

F. Violante, G. Savini, P. Barboni, 2006, Environmental health perspectives.

Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16

B. Barbiroli, P. Barboni, R. Lodi, 2007 .

Leber hereditary optic neuropathy possibly triggered by exposure to tire fire.

J. Keltner, V. Carelli, A. Sadun, 2006, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Leber's hereditary optic neuropathy with childhood onset.

G. Savini, P. Barboni, M. Carbonelli, 2006, Investigative ophthalmology & visual science.

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.

E. Sutter, P. Barboni, V. Carelli, 2006, Transactions of the American Ophthalmological Society.

Visual Electrophysiologic Findings in Patients From an Extensive Brazilian Family with Leber's Hereditary Optic Neuropathy Visual electrophysiology in LHON

V. Carelli, A. Sadun, A. Berezovsky, 2004, Documenta Ophthalmologica.

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

V. Carelli, A. Sadun, M. Valentino, 2003, American journal of ophthalmology.

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

E. Hoffman, M. Zeviani, P. Barboni, 1996, American journal of medical genetics.

Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy.

G. Plazzi, P. Barboni, P. Cortelli, 1995, Journal of neurology, neurosurgery, and psychiatry.

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

E. Bacchelli, A. Battaglia, E. Maestrini, 2022, Frontiers in Genetics.

Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

M. Dotti, A. Accarino, R. De Giorgio, 2022, International journal of molecular sciences.

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

E. Mignot, F. Poli, G. Plazzi, 2014, Sleep Medicine.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age.

G. Savini, P. Barboni, M. Carbonelli, 2011, Ophthalmology.

High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families

C. La Morgia, P. Cortelli, A. Baruzzi, 2010, Cephalalgia : an international journal of headache.

'Behr syndrome' with OPA1 compound heterozygote mutations.

E. Bertini, R. Carrozzo, P. Barboni, 2015, Brain : a journal of neurology.

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells.

P. Chinnery, J. Enríquez, V. Carelli, 2021, Nature reviews. Genetics.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

J. Tolmie, N. Tommerup, H. Karstensen, 2022, Scientific Reports.

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

M. Zeviani, P. Barboni, P. Chinnery, 2013, Brain : a journal of neurology.

Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

M. Carbonelli, R. Lodi, C. La Morgia, 2022, Frontiers in Genetics.

Expanding and validating the biomarkers for mitochondrial diseases

C. La Morgia, V. Carelli, L. Di Vito, 2020, Journal of Molecular Medicine.

The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy.

P. Barboni, C. La Morgia, V. Carelli, 2017, Investigative Ophthalmology and Visual Science.

Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

V. Carelli, C. Giordano, 2016, Brain : a journal of neurology.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

E. Pegoraro, G. Soraru', A. Torraco, 2016, neurogenetics.

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

V. Tiranti, V. Broccoli, V. Carelli, 2020, Stem cell research.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

G. Cantalupo, T. Pippucci, C. La Morgia, 2020, Human Genetics.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

G. Comi, M. Zeviani, M. Mancuso, 2014, Journal of Neurology.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

T. Pippucci, V. Carelli, B. Mostacci, 2020, Clinical Genetics.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Familial Unverricht‐Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study

A. Pini, V. Carelli, A. Parmeggiani, 1997, Epilepsia.

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.

M. Zeviani, R. Villems, T. Kivisild, 2004, American journal of human genetics.

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.

C. La Morgia, V. Carelli, 2018, Essays in biochemistry.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation?

R. Piperno, C. La Morgia, P. Cortelli, 2014, Chronobiology international.

Catalytic Activities of Mitochondrial ATP Synthase in Patients with Mitochondrial DNA T8993G Mutation in the ATPase 6 Gene Encoding Subunit a *

V. Carelli, A. Baracca, G. Solaini, 2000, The Journal of Biological Chemistry.

Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer’s Disease: A Systematic Review

R. Lodi, M. Mitolo, C. La Morgia, 2018, Dementia and Geriatric Cognitive Disorders.

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up.

P. Barboni, C. La Morgia, V. Parisi, 2019, Ophthalmology.

Mitochondrial dysfunction as a cause of optic neuropathies

V. Carelli, A. Sadun, F. Ross-Cisneros, 2004, Progress in Retinal and Eye Research.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Mitochondrial diseases in adults

C. La Morgia, V. Carelli, M. Valentino, 2020, Journal of internal medicine.

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

E. Bacchelli, E. Maestrini, V. Carelli, 2021, Journal of cellular and molecular medicine.

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report

G. Plazzi, G. Savini, P. Barboni, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

C. La Morgia, E. Pegoraro, L. Bello, 2018, Brain : a journal of neurology.

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy.

P. Barboni, V. Carelli, A. Sadun, 2012, Archives of neurology.

Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy

C. Casali, R. De Giorgio, V. Carelli, 2014, PloS one.

Molecular Pathogenesis of Genetic and Inherited Diseases Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

R. De Giorgio, V. Carelli, A. Cossarizza, 2010 .

Nuclear genes in mitochondrial disorders.

Massimo Zeviani, Valerio Carelli, M. Zeviani, 2003, Current opinion in genetics & development.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Disturbed mitochondrial dynamics and neurodegenerative disorders

P. Chinnery, P. Yu-Wai-Man, V. Carelli, 2015, Nature Reviews Neurology.

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

V. Tiranti, V. Broccoli, V. Carelli, 2021, Stem cell reports.

Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.

D. Vigetti, M. Viola, E. Karousou, 2007, The Journal of molecular diagnostics : JMD.

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

C. Zanna, V. Carelli, M. Zaffagnini, 2015, Frontiers in Genetics.

Mitochondrial Retinopathies

M. Zeviani, V. Carelli, 2021, International journal of molecular sciences.

Retina and melanopsin neurons.

C. La Morgia, V. Carelli, A. Sadun, 2021, Handbook of clinical neurology.

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

A. Ghelli, C. Zanna, M. Rugolo, 2020, Human molecular genetics.

Therapeutic Options in Hereditary Optic Neuropathies

P. Barboni, M. Carbonelli, C. La Morgia, 2020, Drugs.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.

C. La Morgia, F. Musiani, C. Zanna, 2018, Biochimica et biophysica acta. Molecular basis of disease.

OPA1: How much do we know to approach therapy?

G. Lenaers, C. Zanna, M. Rugolo, 2018, Pharmacological research.

Incomplete penetrance in mitochondrial optic neuropathies.

C. La Morgia, V. Carelli, M. Valentino, 2017, Mitochondrion.

Optic neuropathies: the tip of the neurodegeneration iceberg

C. La Morgia, V. Carelli, A. Sadun, 2017, Human molecular genetics.

C. La Morgia, R. Santarelli, V. Carelli, 2015, Brain : a journal of neurology.

Genetic Basis of Mitochondrial Optic Neuropathies.

C. La Morgia, C. Zanna, V. Carelli, 2014, Current molecular medicine.

Mitochondrial optic neuropathies: our travels from bench to bedside and back again

C. La Morgia, V. Carelli, A. Sadun, 2013, Clinical & experimental ophthalmology.

The clinical maze of mitochondrial neurology

S. Dimauro, E. Schon, V. Carelli, 2013, Nature Reviews Neurology.

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

C. La Morgia, V. Carelli, M. Valentino, 2013, Molecular and Cellular Neuroscience.

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

P. Barboni, R. Lodi, R. Youle, 2011, Human molecular genetics.

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

M. Zeviani, B. Barbiroli, D. Manners, 2011, Archives of neurology.

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy

M. Zeviani, P. Chinnery, P. Yu-Wai-Man, 2010, Molecular vision.

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

M. Zeviani, G. Savini, P. Barboni, 2010, Ophthalmology.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Genotype–phenotype correlations in mitochondrial optic neuropathies

V. Carelli, A. Sadun, D. Aggarwal, 2009 .

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

P. Barboni, C. La Morgia, V. Carelli, 2009, Biochimica et biophysica acta.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?

V. Carelli, M. Valentino, A. Maresca, 2007, Bioscience reports.

Dominance in mitochondrial disorders

M. Zeviani, V. Carelli, 2005, Journal of Inherited Metabolic Disease.

Chapter 4 Leber's Hereditary Optic Neuropathy

V. Carelli, 2002 .

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Flavia Palombo, Marco Seri, Tommaso Pippucci, 2013, PloS one.

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria.

S. Rampelli, Stephanie L. Schnorr, S. Turroni, 2018, Cell reports.

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors

Giovanni Romeo, Giuseppe Gasparre, Anna Ghelli, 2007, Proceedings of the National Academy of Sciences.

Exploring Metabolic Adaptations to the Acidic Microenvironment of Osteosarcoma Cells Unveils Sphingosine 1-Phosphate as a Valuable Therapeutic Target

S. Avnet, N. Baldini, A. Armirotti, 2021, Cancers.

Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.

J. Sahel, M. Neuenhahn, N. Newman, 2021, Ophthalmology.

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

J. Sahel, N. Newman, M. Moster, 2020, Science Translational Medicine.

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

R. Lodi, M. Contin, C. Casali, 2016, Annals of neurology.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

R. Schüle, R. Lodi, Yaping Yang, 2015, Nature Genetics.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

A. Torroni, P. Barboni, M. Carbonelli, 2018, PLoS genetics.

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population

G. Cerroni, E. Bonanni, S. Sorbi, 2021, GeroScience.

Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation.

Prashant Mishra, V. Carelli, D. Chan, 2014, Cell metabolism.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

G. Cantalupo, T. Pippucci, C. La Morgia, 2020, Human Genetics.

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

G. Comi, M. Zeviani, M. Mancuso, 2013, Neurology.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.

P. Lollini, V. Giorgio, A. Porcelli, 2014, Human molecular genetics.

Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells

M. Attimonelli, P. Lollini, V. Giorgio, 2013, Cancer & metabolism.

A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.

Giovanni Romeo, Giuseppe Gasparre, Anna Ghelli, 2011, Cancer research.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

H. Smeets, M. Zeviani, P. Chinnery, 2007, Molecular vision.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

E. Pegoraro, G. Soraru', A. Torraco, 2016, neurogenetics.

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

G. Plazzi, C. La Morgia, F. Pizza, 2019, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

R. Carrozzo, P. Cortelli, A. Martinuzzi, 1995, Biochemical and biophysical research communications.

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

L. Fasano, L. Pisani, R. Lodi, 2020, Journal of Neurology.

Mitochondrial DNA and OXPHOS Disorders

M. Zeviani, V. Carelli, 2004 .

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

S. Züchner, R. Schüle, L. Schöls, 2014, Brain : a journal of neurology.

Results A family with severe early-onset ‘ optic atrophy plus ’ syndrome and asymptomatic parents

S. Züchner, R. Schüle, L. Schöls, 2014 .

Exploring metabolic reprogramming in melanoma via acquired resistance to the oxidative phosphorylation inhibitor phenformin

A. Ciarrocchi, V. Carelli, A. Maresca, 2020, Melanoma research.

Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease

G. Rizzo, C. La Morgia, V. Carelli, 2017, Movement disorders : official journal of the Movement Disorder Society.

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

D. Manners, R. Lodi, C. La Morgia, 2021, Annals of clinical and translational neurology.

The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication

Stefan J. Siira, C. Gustafsson, J. Griffith, 2021, Science Advances.

Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?

I. Dascola, E. Granieri, A. Brandes, 2014, Neuro-oncology practice.

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia.

R. Villems, E. Metspalu, A. Torroni, 2012, American journal of human genetics.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

New treatments for mitochondrial disease—no time to drop our standards

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Eduardo Ruiz-Pesini, Cristina Ugalde, Jan A Smeitink, 2008, Human molecular genetics.

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

Stefan J. Siira, C. La Morgia, M. Falkenberg, 2022, Nucleic acids research.

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.

E. Bonora, Christine Betts, V. Eusebi, 2013, Human pathology.

Muscle pain in mitochondrial diseases: a picture from the Italian network

G. Comi, M. Mancuso, A. Padovani, 2019, Journal of Neurology.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

Acute rhabdomyolysis induced by tonic–clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

N. Bresolin, G. Comi, R. Michelucci, 2013, Journal of Neurology.

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts.

G. Cortopassi, K. Majamaa, A. Martinuzzi, 2006, Mitochondrion.

Idebenone treatment in Leber's hereditary optic neuropathy.

Giovanni Rizzo, Agostino Baruzzi, Massimo Zeviani, 2011, Brain : a journal of neurology.

Keeping in Shape the Dogma of Mitochondrial DNA Maternal Inheritance

V. Carelli, 2015, PLoS genetics.

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

V. Carelli, D. Chan, 2014, Neuron.

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

G. Rizzo, A. Torroni, P. Barboni, 2013, Biochimica et biophysica acta.

Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phases

G. Savini, P. Barboni, M. Carbonelli, 2008, Graefe's Archive for Clinical and Experimental Ophthalmology.

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

C. La Morgia, A. Ghelli, V. Carelli, 2015, Cell Death and Disease.

Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always.

C. La Morgia, A. Ghelli, V. Carelli, 2017, Mitochondrion.

Melanopsin-expressing retinal ganglion cells: implications for human diseases

V. Carelli, A. Sadun, F. Ross-Cisneros, 2011, Vision Research.

SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION

F. Boaretto, A. Martinuzzi, M. Muglia, 2010, Neurology.

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber’s hereditary optic neuropathy

P. Barboni, C. La Morgia, V. Parisi, 2015, Graefe's Archive for Clinical and Experimental Ophthalmology.

New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy

F. Musiani, A. Ghelli, V. Carelli, 2022, Molecules.

The glutamate/cystine xCT antiporter antagonizes glutamine metabolism and reduces nutrient flexibility

Prashant Mishra, Mohit M. Jain, V. Carelli, 2017, Nature Communications.

Mitochondrial optic neuropathies: additional facts and concepts – response

C. La Morgia, V. Carelli, A. Sadun, 2014, Clinical & experimental ophthalmology.

Brain functional MRI responses to blue light stimulation in Leber's Hereditary Optic Neuropathy.

G. Vandewalle, D. Manners, P. Barboni, 2021, Biochemical pharmacology.

Melanopsin retinal ganglion cell-driven contribution to visual and cognitive brain responses in LHON

G. Vandewalle, D. Manners, P. Barboni, 2020, bioRxiv.

The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells.

D. Hood, P. Barboni, C. La Morgia, 2013, Investigative ophthalmology & visual science.

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

G. Savini, P. Barboni, M. Carbonelli, 2020, Scientific Reports.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy

G. Plazzi, D. Manners, R. Lodi, 2018, American Journal of Neuroradiology.

Optic Nerve Histopathology in a Case of Wolfram Syndrome Demonstrates a Mitochondrial Pattern of Axonal Loss

N. Miller, T. Albini, V. Carelli, 2012 .

The relevance of migraine in the clinical spectrum of mitochondrial disorders

M. Zeviani, E. Pegoraro, L. Bello, 2022, Scientific Reports.

Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.

N. Newman, P. Yu-Wai-Man, V. Carelli, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation

Shriji N. Patel, J. Sahel, M. Neuenhahn, 2022, Ophthalmology and Therapy.

Study design and baseline characteristics for the reflect gene therapy trial ofm.11778g>A/ND4-LHON

J. Sahel, N. Newman, M. Moster, 2022, BMJ Open Ophthalmology.

Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates

David J. Calkins, J. Sahel, N. Newman, 2021, Molecular therapy. Methods & clinical development.

Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

J. Sahel, N. Newman, M. Moster, 2021, Frontiers in Neurology.

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study

J. Sahel, N. Newman, M. Moster, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy.

G. Savini, P. Barboni, P. Cortelli, 2005, Ophthalmology.

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

V. Carelli, V. Leuzzi, P. Pezzi, 1998, Pediatric neurology.

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

V. Carelli, R. Wibom, A. Wredenberg, 2021, Frontiers in Neurology.

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Patrick F Chinnery, Massimo Zeviani, Rubens Belfort, 2007, American journal of human genetics.

Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.

M. Beal, V. Carelli, Yevgeniya I. Shurubor, 2018, Cell metabolism.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium*

A. Schapira, A. Martinuzzi, A. Porcelli, 2003, The Journal of Biological Chemistry.

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity

Anna Ghelli, Stefano Mattioli, Valerio Carelli, 2009, PloS one.

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy

A. Torroni, P. Barboni, C. Rengo, 2002, Annals of neurology.

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

R. Lodi, C. Casali, C. Tonon, 2016, Neurological Sciences.

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

J. Sahel, N. Newman, P. Subramanian, 2022, Brain : a journal of neurology.

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

P. Win, V. Carelli, A. Sadun, 2000, Transactions of the American Ophthalmological Society.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus

A. Torroni, P. Barboni, R. Lodi, 2008, Neurology.

Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON).

A. Ghelli, V. Carelli, G. Lenaz, 1997, Molecular aspects of medicine.

Low Brain Intracellular Free Magnesium in Mitochondrial Cytopathies

R. Lodi, P. Cortelli, P. Martinelli, 1999, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

E. Schon, W. Hauswirth, A. Martinuzzi, 2002, Annals of neurology.

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

V. Carelli, A. Sadun, F. Sadun, 2002, Transactions of the American Ophthalmological Society.

Mitochondrial complex I and cell death: a semi-automatic shotgun model

D. González-Halphen, A. Ghelli, V. Carelli, 2011, Cell Death and Disease.

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

B. Barbiroli, A. Torroni, P. Barboni, 2005, Annals of neurology.

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

M. Sharpley, D. Wallace, V. Carelli, 2012, Proceedings of the National Academy of Sciences.

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

D. Manners, G. Rizzo, P. Barboni, 2015, American Journal of Neuroradiology.

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives

V. Tiranti, V. Broccoli, V. Carelli, 2021, Frontiers in Neurology.

ADULT BRAIN Diffusion Tensor ImagingMapping of BrainWhiteMatter Pathology inMitochondrial Optic Neuropathies

D. Manners, G. Rizzo, P. Barboni, 2015 .

The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

B. Barbiroli, A. Torroni, P. Barboni, 2005, Journal of Medical Genetics.

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

G. Comi, M. Contin, V. Carelli, 2020, Frontiers in Genetics.

HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency.

M. Contin, R. De Giorgio, V. Carelli, 2014, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

G. Plazzi, V. Carelli, R. Liguori, 2006, Gastroenterology.

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

B. Barbiroli, A. Torroni, P. Barboni, 2004 .

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases

A. Torroni, A. Achilli, A. Olivieri, 2018, Neurobiology of Disease.

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Mitochondrion.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

G. Comi, M. Zeviani, M. Mancuso, 2012, Neuromuscular Disorders.

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Massimo Zeviani, Rubens Belfort, Barbara Simionati, 2006, American journal of human genetics.

Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

A. Ghelli, V. Carelli, G. Lenaz, 1999, Annals of neurology.

A Novel in‐Frame 18‐bp Microdeletion in MT‐CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance

G. Rizzo, A. Torroni, P. Barboni, 2014, Human mutation.

Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels

A. Martinuzzi, A. Porcelli, A. Ghelli, 2009 .

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

M. Zeviani, A. Pini, A. Baruzzi, 2002, Archives of neurology.

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

V. Carelli, A. Baracca, G. Sgarbi, 2006, The Biochemical journal.

Cells Bearing Mutations Causing Leber's Hereditary Optic Neuropathy Are Sensitized to Fas-induced Apoptosis*

A. Schapira, G. Cortopassi, A. Martinuzzi, 2002, The Journal of Biological Chemistry.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

M. Zeviani, H. Mandel, R. Lodi, 2020, Journal of inherited metabolic disease.

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.

A. Schapira, G. Cortopassi, M. Savontaus, 2005, Brain : a journal of neurology.

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

A. Torroni, R. Lodi, A. Olivieri, 2014, BMC Neurology.

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

V. Sheffield, E. Stone, S. Daiger, 2008, Ophthalmic genetics.

Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors

M. Sobrinho-Simões, G. Tallini, V. Carelli, 2021, The journal of pathology. Clinical research.

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy.

G. Savini, P. Barboni, C. La Morgia, 2017, Mitochondrion.

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient

P. Barboni, V. Carelli, R. Liguori, 1998, Journal of the Neurological Sciences.

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy.

A. Torroni, P. Barboni, D. Wallace, 1996, American journal of human genetics.

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

P. Barboni, M. Carbonelli, C. La Morgia, 2019, Neurology: Genetics.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.

P. Barboni, C. La Morgia, A. Arrigo, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

G. Comi, S. Corti, V. Carelli, 2022, Frontiers in Genetics.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.

A. Torroni, C. Rengo, A. Martinuzzi, 2002, Biochimica et biophysica acta.

Testing Models for Genetic Determination in Migraine

C. Scapoli, P. Cortelli, V. Carelli, 1993, Cephalalgia : an international journal of headache.

Consensus on guidelines for idebenone administration in Leber's hereditary optic neuropathy (LHON)

V. Carelli, 2016 .

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)

W. Feuer, G. Shaw, V. Carelli, 2008, Molecular vision.

Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber's hereditary optic neuropathy

V. Carelli, D. Ventura, M. Gualtieri, 2008, Visual Neuroscience.

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.

V. Carelli, A. Sadun, D. Ventura, 2007, Investigative ophthalmology & visual science.

Colour vision defects in asymptomatic carriers of the Leber’s hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study

V. Carelli, A. Sadun, A. D. de Negri, 2006, British Journal of Ophthalmology.

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

V. Carelli, A. Sadun, D. Ventura, 2005, Investigative ophthalmology & visual science.

Brain and skeletal muscle bioenergetic failure in familial hypobetalipoproteinaemia.

P. Zaniol, B. Barbiroli, R. Lodi, 1997, Journal of neurology, neurosurgery, and psychiatry.

Visual system involvement in patients with Friedreich's ataxia.

D. Manners, G. Rizzo, G. Savini, 2009, Brain : a journal of neurology.

X‐inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients

N. Howell, E. Pegoraro, A. Vettori, 2003, American journal of medical genetics. Part A.

Lack of association between mitochondrial tRNALeu(UUR) point mutation and cluster headache

P. Barboni, P. Cortelli, V. Carelli, 1995, The Lancet.

Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies

M. Carbonelli, C. La Morgia, V. Carelli, 2017, Front. Neurol..

Retinal Ganglion Cells and Circadian Rhythms in Alzheimer’s Disease, Parkinson’s Disease, and Beyond

C. La Morgia, V. Carelli, A. Sadun, 2017, Front. Neurol..

BRAIN Efﬁcient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

M. Zeviani, P. Barboni, P. Chinnery, 2014 .

Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy.

G. Savini, P. Barboni, C. La Morgia, 2013, Investigative ophthalmology & visual science.

Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.

G. Savini, P. Barboni, M. Carbonelli, 2009, Investigative ophthalmology & visual science.

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

C. La Morgia, P. Avoni, V. Carelli, 2021, Annals of clinical and translational neurology.

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

C. La Morgia, R. Santarelli, V. Carelli, 2021, Audiology research.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

P. Yu-Wai-Man, R. Horvath, M. Rugolo, 2018, Scientific Reports.

Bilateral Visual Improvement with Unilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON)

J. Sahel, N. Newman, M. Moster, 2020 .

Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.

G. Savini, P. Barboni, M. Carbonelli, 2013, Brain : a journal of neurology.

Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology

M. Carbonelli, C. La Morgia, V. Carelli, 2018, Front. Neurol..

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.

G. Cantalupo, P. Barboni, D. Milea, 2010, Brain : a journal of neurology.

A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

V. Carelli, F. Pisani, M. Capristo, 2021, American journal of medical genetics. Part A.

Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights.

P. Barboni, M. Carbonelli, C. La Morgia, 2022, American journal of ophthalmology.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Journal of Neurology.

Chromatic Pupillometry Findings in Alzheimer’s Disease

G. Cantalupo, M. Carbonelli, C. La Morgia, 2020, Frontiers in Neuroscience.

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

M. Montopoli, A. Ghelli, V. Carelli, 2015, Human molecular genetics.

Estrogens Ameliorate Mitochondrial Dysfunction in Leber Hereditary Optic Neuropathy

M. Montopoli, A. Ghelli, V. Carelli, 2010 .

S12.40 Response to metabolic stress in cybrids obtained from patients with Leber's hereditary optic neuropathy

A. Martinuzzi, L. Caparrotta, M. Montopoli, 2008 .

ATP depletion and caspase independent death of cybrids bearing Leber's Hereditary Optic neuropathy MTDNA mutations incubated in galactose medium. A model for endonuclease G-mediated apoptosis

A. Porcelli, A. Ghelli, C. Zanna, 2004 .

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

M. Zeviani, P. Chinnery, P. Yu-Wai-Man, 2011, Mitochondrion.

Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy.

V. Carelli, A. Sadun, F. Ross-Cisneros, 2012, Investigative ophthalmology & visual science.

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

C. La Morgia, V. Carelli, R. Liguori, 2022, Journal of Neurology.

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.

M. Contin, M. Dotti, R. De Giorgio, 2017, Mitochondrion.

Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease

G. Vandewalle, P. Avanzini, P. Barboni, 2023, Annals of clinical and translational neurology.

Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON)

T. Braun, E. Stone, S. Daiger, 2005 .

Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy

D. Manners, M. Carbonelli, R. Lodi, 2022, International Journal of Environmental Research and Public Health.

Capturing the pattern of transition from carrier to affected in Leber's hereditary optic neuropathy.

P. Barboni, M. Carbonelli, C. La Morgia, 2022, American journal of ophthalmology.

Colpocephaly in two siblings: further evidence of a genetic transmission

V. Carelli, P. Montagna, P. Tinuper, 2000, Developmental medicine and child neurology.

The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies.

P. Barboni, M. Carbonelli, C. La Morgia, 2022, American journal of ophthalmology-glaucoma.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

M. Mancuso, C. La Morgia, G. Siciliano, 2020, neurogenetics.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

R. Lodi, T. Pippucci, C. Tonon, 2015, EMBO molecular medicine.

Reactive Oxygen Species in Mitochondrial Optic Neuropathies: Comment.

V. Carelli, A. Sadun, F. Ross-Cisneros, 2015, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

E. Bertini, M. Tarnopolsky, G. Enns, 2023, Neurology.

Erratum: A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck (PLoS ONE (2014) 9:5 (e96663) DOI: 10.1371/journal.pone.0096663)

S. Dimauro, A. Baruzzi, V. Carelli, 2014 .

Management of ophthalmologic manifestations of mitochondrial diseases

N. Newman, P. Yu-Wai-Man, V. Carelli, 2017, Genetics in Medicine.

Choroidal vascularity index in hereditary optic neuropathies

P. Barboni, V. Carelli, E. Borrelli, 2023, Eye.

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

C. La Morgia, R. Santarelli, V. Carelli, 2016, Brain : a journal of neurology.

MITOCHONDRIAL DISORDERS

M. Zeviani, V. Carelli, 2007 .