Valerio Carelli
Università degli Studi di Bologna
H-index: 101
Europe-Italy
Top articles of Valerio Carelli
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy | Journal of Medical Genetics | Claudio Fiorini Andrea Degiorgi Maria Lucia Cascavilla Concetta Valentina Tropeano Chiara La Morgia | 2024/1/1 |
Assessing Clinically Relevant Recovery of Visual Acuity Over Time in Patients with Leber Hereditary Optic Neuropathy Treated with Idebenone: Results from the LEROS Study (S40. 001) | Nancy Newman Patrick Yu-Wai-Man Valerio Carelli Xavier Llòria Thomas Klopstock | 2024/4/14 | |
The yin and the yang of molecular decompensation in LHON | Acta Ophthalmologica | Valerio Carelli | 2024/1 |
The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs | Journal of American Association for Pediatric Ophthalmology and Strabismus | Mung Yan Lin Raymond P Najjar Zhiqun Tang Daniela Cioplean Mihaela Dragomir | 2024/2/1 |
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m. 14484 T> C and m. 10680G> A | Stem Cell Research | Camille Peron Andrea Cavaliere Chiara Fasano Angelo Iannielli Manuela Spagnolo | 2024/6/1 |
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | NPJ Genomic Medicine | Marta Viggiano Fabiola Ceroni Paola Visconti Annio Posar Maria Cristina Scaduto | 2024/3/22 |
New insights into idebenone therapy in relation to NQO1 | Acta Ophthalmologica | Chiara La Morgia Serena Jasmine Aleo Valentina Del Dotto Martina Romagnoli Claudio Fiorini | 2024/1 |
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson’s Disease Patients: A Case-Control Instrumental Evaluation | Journal of Parkinson's Disease | Giulia Giannini Raffaella Minardi Giorgio Barletta Ilaria Cani Annagrazia Cecere | 2024/2/1 |
Does Deep Brain Stimulation worsen cognitive decline in GBA-Parkinson Disease patients? A longitudinal study of the Italian PARKNET cohort | Parkinsonism & Related Disorders | M AVENALI CA Artusi R Cilia G Giannini G Cuconato | 2024/5/1 |
Optic nerve head dimension as biomarker in Leber hereditary optic neuropathy | Acta Ophthalmologica | Marco Battista Michele Carbonelli Catarina P Coutinho Jonathan Oakley Maria Lucia Cascavilla | 2024/1 |
Application of a deep learning system to detect papilledema on nonmydriatic ocular fundus photographs in an emergency department | American Journal of Ophthalmology | Valérie Biousse Raymond P Najjar Zhiqun Tang Mung Yan Lin David W Wright | 2024/5/1 |
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial | Cell Reports Medicine | Patrick Yu-Wai-Man Valerio Carelli Nancy J Newman Magda Joana Silva Aki Linden | 2024/2/29 |
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients | American Journal of Ophthalmology | Giulia Amore Martina Romagnoli Michele Carbonelli Maria Lucia Cascavilla Anna Maria De Negri | 2024/1/24 |
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep | Molecular Genetics & Genomic Medicine | Laura Licchetta Lucia Di Giorgi Margherita Santucci Lisa Taruffi Carlotta Stipa | 2024/1 |
Two more families supporting the existence of monogenic spinocerebellar ataxia 48 | Neurogenetics | Flavia Palombo Alessandro Vaisfeld Valentina Concetta Tropeano Danara Ormanbekova Isabelle Bacchi | 2024/4/16 |
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy | The American Journal of Human Genetics | Melanie Brugger Antonella Lauri Yan Zhen Laura L Gramegna Benedikt Zott | 2024/2/21 |
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer’s disease and other neurodegenerative disorders: a review | Martina Romagnoli Giulia Amore Pietro Avanzini Valerio Carelli Chiara La Morgia | 2024/1/8 | |
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population | Genetics in Medicine Open | Teresa Campbell Jesse Slone Hallie Metzger Wensheng Liu Stephanie Sacharow | 2024/1/1 |
Treatment Options for Acute/Subacute Patients with m. 11778G> A MT-ND4 Leber Hereditary Optic Neuropathy: A Meta-analysis (P10-10.006) | Nancy Newman Patrick Yu-Wai-Man Valerio Carelli Valerie Biousse Catherine Vignal-Clermont | 2024/4/14 | |
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy | Cell Reports Medicine | Serena Jasmine Aleo Valentina Del Dotto Martina Romagnoli Claudio Fiorini Giada Capirossi | 2024/2/20 |
