Works matching AU Carelli, Valerio
Results: 169
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
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- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
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- Article
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
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- 2016
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- Publication type:
- journal article
Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.
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- Biomolecules (2218-273X), 2021, v. 11, n. 4, p. 496, doi. 10.3390/biom11040496
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- Article
Progression of micro-anatomical, molecular and metabolic changes affecting the liver of patients with TYMP derived mitochondrial disease.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 46
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- Article
Microvascular alterations in idiopathic forms of Chronic Intestinal Pseudo- Obstruction: a morphometric and molecular analysis.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 258
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- Article
Laser micro-anatomical dissection reveals the recovery of mtDNA depletion in the ileum of a Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) patient receiving liver transplant.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 31
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- Article
Cellular and metabolic changes in the liver tissue of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 207
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- 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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- Article
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1918, doi. 10.1002/ajmg.a.62153
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- Article
Myoclonus in mitochondrial disorders.
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- Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
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- 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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- Article
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00411-1
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- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
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- Article
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
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- JAMA Ophthalmology, 2025, v. 143, n. 2, p. 99, doi. 10.1001/jamaophthalmol.2024.5375
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- Article
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
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- Cephalalgia, 2010, v. 30, n. 8, p. 919, doi. 10.1177/0333102409354654
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- 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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- Article
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03421-5
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- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Article
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
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- Human Mutation, 2009, v. 30, n. 3, p. 391, doi. 10.1002/humu.20870
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- 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.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 9, p. 1591, doi. 10.1007/s00417-015-2979-1
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- Article
Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker.
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- Clinical & Experimental Ophthalmology, 2018, v. 46, n. 9, p. 1055, doi. 10.1111/ceo.13326
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- Article
Mitochondrial optic neuropathies: additional facts and concepts - response.
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- Clinical & Experimental Ophthalmology, 2014, v. 42, n. 2, p. 207, doi. 10.1111/ceo.12147
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- Article
Mitochondrial optic neuropathies: our travels from bench to bedside and back again.
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- Clinical & Experimental Ophthalmology, 2013, v. 41, n. 7, p. 702, doi. 10.1111/ceo.12086
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- Article
Methyl carbamates of phosphatidylethanolamines and phosphatidylserines reveal bacterial contamination in mitochondrial lipid extracts of mouse embryonic fibroblasts.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40357-5
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- 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 and metabolic signature of oncocytic transformation implicates HIF1α destabilization.
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- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1019, doi. 10.1093/hmg/ddp566
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- Article
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 4001, doi. 10.1093/hmg/ddn303
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- Article
Medical management of hereditary optic neuropathies.
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- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00141
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- Article
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
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- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
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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
Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy.
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- Ophthalmic Genetics, 2008, v. 29, n. 1, p. 17, doi. 10.1080/13816810701867607
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- Article
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.
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- Audiology Research, 2021, v. 11, n. 4, p. 639, doi. 10.3390/audiolres11040059
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- Article
The glutamate/cystine xCT antiporter antagonizes glutamine metabolism and reduces nutrient flexibility.
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- Nature Communications, 2017, v. 8, n. 4, p. 15074, doi. 10.1038/ncomms15074
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- Article
Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127906
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- Article
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
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- 2016
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- Publication type:
- journal article
Melanopsin retinal ganglion cell loss in Alzheimer disease.
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- 2016
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- Publication type:
- journal 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.
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- Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410
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- 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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- 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
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy.
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- Annals of Neurology, 2002, v. 52, n. 5, p. 534, doi. 10.1002/ana.10354
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- Article
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
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- 2002
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- Publication type:
- journal article
Interaction Between Mitochondrial DNA Variants and Mitochondria/Endoplasmic Reticulum Contact Sites: A Perspective Review.
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- 2020
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- Publication type:
- Literature Review
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.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 11, p. 6914, doi. 10.3390/ijerph19116914
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- Article
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
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- Neurogenetics, 2024, v. 25, n. 3, p. 277, doi. 10.1007/s10048-024-00758-8
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- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
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- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
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- Article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2017
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- Erratum
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2016
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- Publication type:
- Erratum