Works matching AU Valentino, Maria Lucia
Results: 49
A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596
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- Publication type:
- Article
OPA1-RELATED AUDITORY NEUROPATHY: SITE OF LESION AND OUTCOME OF COCHLEAR IMPLANTATION.
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- Journal of International Advanced Otology, 2015, v. 11, p. 15
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- Publication type:
- Article
Brain diffusion-weighted imaging in Friedreich's ataxia.
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- Movement Disorders, 2011, v. 26, n. 4, p. 705, doi. 10.1002/mds.23518
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- Publication type:
- Article
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61735-3
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- Publication type:
- Article
Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy.
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- Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00501
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- Publication type:
- Article
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
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- Acta Myologica, 2021, v. 40, n. 4, p. 177, doi. 10.36185/2532-1900-061
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- Publication type:
- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Publication type:
- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Publication type:
- Article
Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis.
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- Cells (2073-4409), 2021, v. 10, n. 5, p. 1146, doi. 10.3390/cells10051146
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- Publication type:
- Article
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
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- Article
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1322067
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- Article
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
- Published in:
- 2015
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- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA 1 missense mutations.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410
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- Publication type:
- Article
Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 719
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- Publication type:
- Article
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 631
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- Publication type:
- Article
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
- Published in:
- 2002
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- Publication type:
- journal article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
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- 2017
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- Publication type:
- Erratum
The relevance of migraine in the clinical spectrum of mitochondrial disorders.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08206-z
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- Publication type:
- Article
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
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- FEBS Letters, 2007, v. 581, n. 18, p. 3410, doi. 10.1016/j.febslet.2007.06.042
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- Publication type:
- Article
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. e67, doi. 10.1093/brain/awad080
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- Article
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
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- 2018
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- Publication type:
- Letter
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
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- 2016
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- Publication type:
- Letter
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy.
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- PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007210
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- Publication type:
- Article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
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- 2020
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- Publication type:
- journal article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
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- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514
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- Publication type:
- Article
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30143-z
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- Publication type:
- Article
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
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- Publication type:
- Article
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
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- EMBO Molecular Medicine, 2023, v. 15, n. 7, p. 1, doi. 10.15252/emmm.202216951
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- Publication type:
- Article
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
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- Nucleic Acids Research, 2022, v. 50, n. 15, p. 8749, doi. 10.1093/nar/gkac661
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- Publication type:
- Article
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 1116, doi. 10.3390/ijms26031116
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- Publication type:
- Article
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
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- 2020
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- Publication type:
- Correction Notice
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399
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- Publication type:
- Article
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
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- 2022
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- Publication type:
- journal article
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.
- Published in:
- 2017
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- Publication type:
- Case Study
Expanding and validating the biomarkers for mitochondrial diseases.
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- Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1467, doi. 10.1007/s00109-020-01967-y
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- Publication type:
- Article
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 704, doi. 10.1002/acn3.51259
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- Publication type:
- Article
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1893, doi. 10.1002/acn3.50888
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- Publication type:
- Article
A Novel Null Homozygous Mutation Confirms<i>CACNA2D2</i> as a Gene Mutated in Epileptic Encephalopathy.
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- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082154
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- Publication type:
- Article
Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050230
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- Publication type:
- Article
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242
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- Publication type:
- Article
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
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- 2016
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- Publication type:
- commentary
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
- Published in:
- 2015
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- Publication type:
- journal article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
- Published in:
- 2014
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- Publication type:
- journal article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
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- Publication type:
- Article
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e231, doi. 10.1093/brain/aws280
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- Publication type:
- Article
Idebenone Treatment In Leber's Hereditary Optic Neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. e188, doi. 10.1093/brain/awr180
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- Publication type:
- Article
Visual system involvement in patients with Friedreichs ataxia.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 116, doi. 10.1093/brain/awn269
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- Publication type:
- Article
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 338, doi. 10.1093/brain/awm298
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- Publication type:
- Article
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 352, doi. 10.1093/brain/awm335
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- Publication type:
- Article