List of works - Maria Lucia Valentino

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

scientific article published on 24 February 2011

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

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

scientific article

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

scientific article

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

scientific article published on 20 December 2008

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

scientific article

Brain diffusion-weighted imaging in Friedreich's ataxia

scientific article published on 02 March 2011

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

scientific article published on 18 January 2018

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

scientific article

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

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

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

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

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

article

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

scientific article published in August 2003

Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family

scientific article published in April 2002

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

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

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

Infusion of platelets transiently reduces nucleoside overload in MNGIE

scientific article published on 13 September 2006

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

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

scientific article published in Journal of Biological Chemistry

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

scientific article

Mitochondrial diseases in adults

scientific article published on 01 June 2020

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

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

scientific article

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

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

scientific article published in May 2013

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

scientific article published on October 2002

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

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

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

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

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

scientific article published in November 2004

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

scientific article

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

scientific article published on August 15, 2012

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

scientific article

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

scientific article published in July 2005

Visual system involvement in patients with Friedreich's ataxia

scientific article

List of works by Maria Lucia Valentino

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

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

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

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

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

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

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

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

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

Brain diffusion-weighted imaging in Friedreich's ataxia

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

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

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

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

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

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

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

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

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

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

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

Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family

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

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

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

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

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

Idebenone treatment in Leber's hereditary optic neuropathy.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Infusion of platelets transiently reduces nucleoside overload in MNGIE

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

Leber's hereditary optic neuropathy with childhood onset

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

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

Mitochondrial diseases in adults

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

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

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

Myoclonus in mitochondrial disorders

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

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

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

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

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report

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

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

Redefining phenotypes associated with mitochondrial DNA single deletion

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

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

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

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

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

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

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

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

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

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

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

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

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

Visual system involvement in patients with Friedreich's ataxia