Valeria Tiranti

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta

Affiliated withFondazione IRCCS Istituto Neurologico Carlo Besta

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 5	2022

Other Publications

Article	Year
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Biochimica et biophysica acta\| PubMed ID: 26968897	2016
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. EMBO molecular medicine\| PubMed ID: 27856618	2017
Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN. Molecular genetics and metabolism\| PubMed ID: 28456385	2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics\| PubMed ID: 28664294	2017
Classification and molecular pathogenesis of NBIA syndromes. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society\| PubMed ID: 29409688	2018
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome. Neurogenetics\| PubMed ID: 29971521	2018
Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition. Pharmaceuticals (Basel, Switzerland)\| PubMed ID: 30744104	2019
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion\| PubMed ID: 30986505	2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet journal of rare diseases\| PubMed ID: 31665043	2019
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). Stem cell research\| PubMed ID: 32771908	2020
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation. Molecular genetics and metabolism reports\| PubMed ID: 32923369	2020
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model. International journal of molecular sciences\| PubMed ID: 33352696	2020
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome. Stem cell research\| PubMed ID: 33434818	2021
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives. Frontiers in neurology\| PubMed ID: 34168607	2021
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs. Stem cell reports\| PubMed ID: 34329598	2021
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation. Neurogenetics\| PubMed ID: 34387792	2021
Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype. Cell death & disease\| PubMed ID: 35217637	2022