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List of works by Valerio Carelli

'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

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

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

scientific article published on 24 February 2011

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

scientific article

A neurodegenerative perspective on mitochondrial optic neuropathies

scientific article

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck

scientific article

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

scientific article published on 20 September 2013

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

scientific article

Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent

scientific article published in December 2003

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

scientific article published on 20 December 2008

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

scientific article published in 2014

Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathy

scientific article

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

scientific article published on 01 December 2020

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

scientific article published on 01 March 1999

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

scientific article

Bioenergetics of mitochondrial diseases associated with mtDNA mutations

scientific article

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

scientific article published in July 2004

Brain diffusion-weighted imaging in Friedreich's ataxia

scientific article published on 02 March 2011

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

scientific article

Ceftriaxone is ineffective in ALS

scientific article published on 01 February 1994

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

scientific article published on 18 January 2018

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

scientific article published in October 1998

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

scientific article published in December 2005

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

scientific article

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

scientific article published in Scientific Reports

Colpocephaly in two siblings: further evidence of a genetic transmission.

scientific article published in April 2000

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

scholarly article

Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study.

scientific article published on April 2005

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

scientific article published on 14 December 2012

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

scientific article published on 12 March 2015

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

scientific article published on 13 September 2010

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

scientific article published in November 2004

Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT.

scientific article

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

scientific article published on 24 October 2013

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

scientific article

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

scientific article published on 19 March 2015

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

scholarly article

Disturbed mitochondrial dynamics and neurodegenerative disorders

scientific article published on 09 December 2014

Dominance in mitochondrial disorders.

scientific article

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

scientific article published on 5 June 2014

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

scientific article

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

scientific article published in 2021

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

article

Expanding and validating the biomarkers for mitochondrial diseases

scientific article published on 26 August 2020

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

scientific article published in August 2003

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

scientific article published on December 2012

First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve.

scientific article published in June 2002

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

scientific article published in October 1994

Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.

scientific article published on 13 June 2013

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion

scientific article

Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?

scientific article published on January 2007

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

scientific article published on 08 January 2014

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

scientific article

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

scientific article

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

scientific article published on 13 April 2015

Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy.

scientific article published on July 2005

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

scientific article published on 03 April 2020

Idebenone treatment in Leber's hereditary optic neuropathy.

scientific article published on 2 August 2011

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

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.

scientific article published on May 2006

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

scientific article

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

scientific article published on 23 February 2005

Keeping in shape the dogma of mitochondrial DNA maternal inheritance

scientific article published on 14 May 2015

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

scientific article published in The Lancet

Leber Hereditary Optic Neuropathy Possibly Triggered by Exposure to Tire Fire

article

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

scientific article published on September 2004

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

scientific article

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

scientific article

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases ⬇️

scientific article published on December 1, 2001

Leber's hereditary optic neuropathy with childhood onset

Leber’s Hereditary Optic Neuropathy

scientific article published on 01 February 2011

Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy

scientific article

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

scientific article

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

scientific article published on 5 June 2015

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

scientific article

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

scientific article published in May 2007

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

scientific article

Medical management of hereditary optic neuropathies

scientific article

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

scientific article

Melanopsin-expressing retinal ganglion cells: implications for human diseases

scientific article

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

scientific article published on 8 February 2013

Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations.

scientific article published on 07 February 2015

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

scientific article published on 19 September 2008

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

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

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

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

scientific article

Mitochondrial DNA: impacting central and peripheral nervous systems

scientific article

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

scientific article published on October 27, 2011

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

scientific article published on 24 May 2006

Mitochondrial diseases in adults

scientific article published on 01 June 2020

Mitochondrial disorders

scientific article published on 01 October 2003

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options

scientific article published on February 2013

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

scientific article

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

scientific article published on June 2007

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

scientific article published on 11 April 2013

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

scientific article

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

scientific article published on May 1995

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

scientific article

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

scientific article published on 17 March 2015

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

scientific article published on 05 June 2022

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

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

scientific article published on 20 May 2020

Myelin, mitochondria, and autoimmunity: What's the connection?

scientific article published on 01 March 2008

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

scientific article

Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography

scientific article

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

scientific article published on 17 February 2022

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

scientific article published on 02 July 2013

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

scientific article published on 28 March 2014

Nuclear genes in mitochondrial disorders.

scientific article

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

scientific article published on 25 October 2010

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

scientific article published in February 2008

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

scientific article published on 24 April 2010

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

scientific article

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

scientific article

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report

scientific article published on 24 March 2004

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

scientific article

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

scientific article published on 9 May 2013

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

scientific article published in February 2004

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss

scientific article published on 6 June 2013

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

scientific article published on 10 March 2017

Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): Possible involvement of mitochondria, light and glutamate

scientific article published on 03 April 2006

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

scientific article

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

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.

scientific article

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

scientific article published on 20 October 2020

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids

scientific article

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

scientific article

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

scientific article published on 01 May 2008

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

scientific article

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

scientific article published on 23 January 2008

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

scientific article

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

scientific article published on October 2002

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

scientific article published on 21 October 2013

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

scientific article

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

scientific article published in January 2005

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

scientific article published in January 2005

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

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

scientific article

Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers

scientific article

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

Secondary post-geniculate involvement in Leber's hereditary optic neuropathy

scientific article

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

scientific article

Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

scientific article published on 21 December 2009

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

Testing Models for Genetic Determination in Migraine

article

The Interaction of Q Analogs, Particularly Hydroxydecyl Benzoquinone (Idebenone), with the Respiratory Complexes of Heart Mitochondria

scientific article published on 01 June 1996

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

scientific article published on 01 June 2022

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

scientific article published in November 2004

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

scientific article

The clinical maze of mitochondrial neurology ⬇️

scientific article published on 09 July 2013

The effects of idebenone on mitochondrial bioenergetics ⬇️

scientific article

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

scientific article published on 22 December 2009

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

scientific article

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

scientific article

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

scientific article published on August 15, 2012

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

scientific article

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

scientific article

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

scientific article

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

scientific article

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

scientific article published on 31 July 2010

Visual system involvement in patients with Friedreich's ataxia

scientific article

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

scientific article

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

scientific article published on 01 February 1996

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