C. La Morgia

发表

Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.

Raymond P. Najjar, N. Newman, J. Jonas, 2020, The New England journal of medicine.

Epilepsy in coeliac disease: not just a matter of calcifications

I. Naldi, C. La Morgia, F. Bisulli, 2011, Neurological Sciences.

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

E. Mignot, G. Plazzi, C. La Morgia, 2020, Human molecular genetics.

A neurodegenerative perspective on mitochondrial optic neuropathies

P. Barboni, M. Votruba, C. La Morgia, 2016, Acta Neuropathologica.

Melanopsin retinal ganglion cell loss in Alzheimer disease

P. Avanzini, G. Cantalupo, P. Barboni, 2015, Annals of neurology.

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

M. Zeviani, G. Rizzo, G. Savini, 2014, American journal of ophthalmology.

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients

C. La Morgia, P. Martinelli, S. Capellari, 2011, Neurological Sciences.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

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

Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences.

G. Cerroni, E. Bonanni, S. Sorbi, 2020, Journal of Alzheimer's disease : JAD.

Leber’s hereditary optic neuropathy: new quinone therapies change the paradigm

C. La Morgia, V. Carelli, A. Sadun, 2012 .

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

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

Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache

R. Agati, C. La Morgia, P. Cortelli, 2018, Front. Neurol..

A 15-year epileptogenic period after perinatal brain injury.

G. Cantalupo, C. La Morgia, E. Pavlidis, 2017, Functional neurology.

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

E. Mignot, G. Plazzi, D. Inzitari, 2014, Brain : a journal of neurology.

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy

G. Savini, P. Barboni, M. Carbonelli, 2015, British Journal of Ophthalmology.

Mitochondrial Optic Neuropathies

C. La Morgia, P. Yu-Wai-Man, V. Carelli, 2019, Diagnosis and Management of Mitochondrial Disorders.

Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker

P. Barboni, C. La Morgia, V. Parisi, 2018, Clinical & experimental ophthalmology.

Changes in Choroidal Thickness follow the RNFL Changes in Leber’s Hereditary Optic Neuropathy

G. Rizzo, G. Savini, P. Barboni, 2016, Scientific Reports.

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements

J. Sebag, G. Savini, P. Barboni, 2015, PloS one.

Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study

R. Agati, C. La Morgia, P. Cortelli, 2019, Front. Neurol..

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

N. Newman, C. Orssaud, P. Barboni, 2017, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy

V. Tiranti, C. Tacchetti, C. La Morgia, 2022, Cell reports.

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

M. Zeviani, G. Rizzo, P. Barboni, 2015, Annals of neurology.

Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer’s disease

C. La Morgia, M. Harrington, A. Sadun, 2019, PloS one.

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

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

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular medicine.

The role of mtDNA haplogroups on metabolic features in narcolepsy type 1

G. Plazzi, A. Torroni, C. La Morgia, 2022, Mitochondrion.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder

G. Plazzi, M. Carbonelli, M. Tinazzi, 2021, Movement disorders : official journal of the Movement Disorder Society.

A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome

C. La Morgia, F. Cirignotta, S. Mondini, 2015, BMJ Case Reports.

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

D. Manners, G. Rizzo, P. Barboni, 2012, PloS one.

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia

C. La Morgia, V. Carelli, R. Liguori, 2022, Neurology. Genetics.

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

G. Comi, A. Albanese, E. Valente, 2022, Movement disorders : official journal of the Movement Disorder Society.

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.

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.

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.

Editorial: Hereditary Optic Neuropathies: A New Perspective

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

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.

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.

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.

Leber's hereditary optic neuropathy with childhood onset.

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

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.

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.

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

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

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

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

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

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

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 diseases in adults

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

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.

Retina and melanopsin neurons.

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

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.

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

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

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.

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.

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

David J. Calkins, J. Sahel, N. Newman, 2020, Science Translational Medicine.

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.

Retinal imaging in Alzheimer's and neurodegenerative diseases

P. Snyder, M. Carrillo, H. Snyder, 2020, Alzheimer's & dementia : the journal of the Alzheimer's Association.

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

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

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

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

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.

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

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

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.

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.

Augmentation of restless legs syndrome with long‐term tramadol treatment

G. Plazzi, C. La Morgia, R. Vetrugno, 2007, Movement disorders : official journal of the Movement Disorder Society.

Idebenone treatment in Leber's hereditary optic neuropathy.

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

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.

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.

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.

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.

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.

Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study

P. Barboni, M. Carbonelli, C. La Morgia, 2022, Scientific Reports.

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.

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.

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.

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

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

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

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

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.

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.

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.

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

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

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.

The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis

Jacqueline Palace, P. Subramanian, T. Schmitz-Hübsch, 2023, Frontiers in Neurology.

“Agrypnia excitata” in a case of sporadic Creutzfeldt–Jakob disease VV2

R. Lodi, C. La Morgia, C. Tonon, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

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..

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.

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.

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

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

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

G. Rizzo, G. Savini, P. Barboni, 2013, European 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.

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.

Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers?

Simone Baiardi, Chiara La Morgia, Lucia Sciamanna, 2018, Accident; analysis and prevention.

The search for Parkinson disease biomarkers

Jamie L. Adams, C. La Morgia, 2018, Neurology.

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.

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

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

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.

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.

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.

P027. Idiopathic intracranial hypertension without papilledema in refractory chronic daily headache

C. La Morgia, P. Cortelli, L. Cirillo, 2015, The Journal of Headache and Pain.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular Medicine.

Idebenone treatment in Leber's hereditary optic neuropathy.

M. Zeviani, G. Rizzo, P. Barboni, 2011, Brain : a journal of neurology.

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

P. Barboni, M. Carbonelli, C. La Morgia, 2023, Journal of medical genetics.

Middle-aged Woman With Bilateral Macular Atrophy, Hearing Loss, and Headache.

C. La Morgia, G. Querques, E. Borrelli, 2021, JAMA ophthalmology.

Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers?

C. La Morgia, F. Cirignotta, S. Mondini, 2018, Accident; analysis and prevention.

M. Mascalchi, C. La Morgia, R. Vetrugno, 2010, Sleep Medicine.

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy

G. Savini, P. Barboni, M. Carbonelli, 2015, British Journal of Ophthalmology.

Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

P. Barboni, C. La Morgia, V. Carelli, 2017, Ophthalmology.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

R. Carrozzo, T. Arzberger, C. La Morgia, 2024, American journal of human genetics.

OP-BRAI140070 1..13

E. Mignot, G. Plazzi, D. Inzitari, 2014 .

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

G. Plazzi, P. Barboni, R. Lodi, 2014, Brain : a journal of neurology.

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

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

AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients.

P. Barboni, M. Carbonelli, C. La Morgia, 2024, American journal of ophthalmology.

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

P. Barboni, M. Carbonelli, C. La Morgia, 2024, Cell reports. Medicine.