MV
MARIA LUCIA VALENTINO
IRCCS Istituto Delle Scienze Neurologiche di Bologna
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Mitochondrial Function and Pathology · Hereditary Neurological Disorders · Metabolism and Genetic Disorders
0000-0001-5323-0115
Employment
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IRCCS Istituto Delle Scienze Neurologiche di Bologna Dirigente medico2013 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (78)
- An inflammatory myopathy unmasks a case of leprosy in an Italian patient Save
- Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies Save
- Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy Save
- OPA1-related auditory neuropathy: Site of lesion and outcome of cochlear implantation Save
- Redefining phenotypes associated with mitochondrial DNA single deletion Save
- Syndromic parkinsonism and dementia associated with OPA1 missense mutations Save
- A Novel in-Frame 18-bp Microdeletion in MT-CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance Save
- A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck Save
- Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation Save
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy Save
- 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) Save
- Genetic basis of mitochondrial optic neuropathies Save
- Myoclonus in mitochondrial disorders Save
- The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? Save
- A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy Save
- Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency Save
- Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions Save
- Idebenone treatment in patients with OPA1-mutant dominant optic atrophy Save
- Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation Save
- The optic nerve: A "mito-window" on mitochondrial neurodegeneration Save