Publications by authors named "Alessia Catania"

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Gender Is the Main Predictor of Wearing-Off and Dyskinesia in Levodopa-Naïve Patients with Parkinson's Disease.
Maria Teresa Pellecchia, Marina Picillo, Maria Claudia Russillo, Marianna Amboni, Gennarina Arabia, Alessia Catania

Mov Disord Clin Pract· November 2025

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Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.
Alessia Catania, Silvia Marchet, Krisztina Einvag, Eleonora Lamantea, Ettore Salsano

Mol Genet Metab· November 2025

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A De Novo Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.
Alessia Nasca, Alessia Catania, Andrea Legati, Rossella Izzo, Carola D'onofrio

Biomolecules· August 2025

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PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.
Silvia Marchet, Alessia Catania, Anna Ardissone, Vincenzo Montano, Krisztina Einvag

Clin Ther· May 2025

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Multifocal vitelliform lesions associated with mitochondrial retinopathy.
Maurizio Battaglia Parodi, Alessio Antropoli, Lorenzo Bianco, Alessandro Arrigo, Sebastiano Del Fabbro, Alessia Catania

Am J Ophthalmol Case Rep· December 2024

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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Alessia Catania

Orphanet J Rare Dis· May 2024

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Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Alessia Catania

Cell Rep Med· February 2024

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Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Celeste Panteghini, Chiara Reale, Isabel Colangelo, Marta Suerz, Alessia Catania

Parkinsonism Relat Disord· December 2023

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Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
Mirko Baglivo, Alessia Nasca, Eleonora Lamantea, Stefano Vinci, Manuela Spagnolo, Alessia Catania

Int J Mol Sci· August 2023

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Rauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, Ralf A Husain, Alessia Catania

Am J Hum Genet· September 2022

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Biallelic Variants in Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Alessia Catania

Cells· March 2022

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The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Veria Vacchiano, Leonardo Caporali, Chiara La Morgia, Michele Carbonelli, Giulia Amore, Alessia Catania

Mitochondrion· September 2021

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Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A Bindoff

Biomedicines· July 2021

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Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata

Front Neurol· June 2021

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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Silvia Marchet, Andrea Legati, Alessia Nasca, Ivano Di Meo, Manuela Spagnolo, Alessia Catania

Hum Mutat· October 2020

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Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S Kremer, Marina Paviolo

Orphanet J Rare Dis· October 2019

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DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
Alessia Catania, Lorenzo Peverelli, Silvia Tabano, Daniele Ghezzi, Costanza Lamperti

Neurol Sci· September 2019

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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet

Am J Med Genet A· May 2019

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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
Alessia Catania, Anna Ardissone, Daniela Verrigni, Andrea Legati, Aurelio Reyes

J Hum Genet· May 2018

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Roles of neutrophil gelatinase-associated lipocalin (NGAL) in human cancer.
Saverio Candido, Roberta Maestro, Jerry Polesel, Alessia Catania, Francesca Maira

Oncotarget· March 2014

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Insight into the role of microRNAs in brain tumors (review).
Alessia Catania, Francesca Maira, Evangelia Skarmoutsou, Fabio D'Amico, Roger Abounader

Int J Oncol· March 2012

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Molecular targeted therapy in melanoma: a way to reverse resistance to conventional drugs.
Francesca Maira, Alessia Catania, Saverio Candido, Alessia Erika Russo, James A McCubrey

Curr Drug Deliv· January 2012

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microRNA-34a is tumor suppressive in brain tumors and glioma stem cells.
Fadila Guessous, Ying Zhang, Alex Kofman, Alessia Catania, Yunqing Li

Cell Cycle· March 2010

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