Publications by authors named "Daniela Verrigni"

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Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency.
Alessandro Ferretti, Roberta Battini, Olga Gagliardo, Daniela Verrigni, Maria Beatrice Manca

Epilepsia· November 2025

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MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni

Am J Med Genet A· June 2025

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De Novo Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone

Int J Mol Sci· July 2024

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Novel Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.
Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini

Neurol Genet· August 2022

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Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki

Hum Mutat· June 2021

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Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, Teresa Rizza, Enrico Bertini

Genes (Basel)· February 2021

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A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco

Neurobiol Dis· July 2020

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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 Novel Variants.
Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Daniela Verrigni

J Clin Med· March 2020

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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Daniela Verrigni

Hum Mutat· October 2019

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Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca

Hum Mutat· May 2019

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ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Daniela Verrigni

Hum Mol Genet· October 2018

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ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Daniela Verrigni

Hum Mol Genet· August 2018

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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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Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de Los Angeles Avaria, Bernardita Suarez, Daniela Verrigni

Eur J Hum Genet· March 2018

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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Daniela Verrigni

Clin Chim Acta· August 2017

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Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Michela Di Nottia, Arianna Montanari, Daniela Verrigni, Romina Oliva, Alessandra Torraco

Biochim Biophys Acta Mol Basis Dis· April 2017

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Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Alessandra Torraco, Anna Ardissone, Federica Invernizzi, Teresa Rizza, Giuseppe Fiermonte, Daniela Verrigni

J Neurol· January 2017

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A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D'Amico, Teresa Rizza

Eur J Hum Genet· March 2016

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino

J Inherit Metab Dis· March 2016

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LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Cristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Daniela Verrigni

Brain· March 2016

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Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Nunziata Maio, Daniele Ghezzi, Daniela Verrigni, Teresa Rizza, Enrico Bertini

Cell Metab· February 2016

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Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez

Eur J Paediatr Neurol· September 2015

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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Gloria Brea-Calvo, Tobias B Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Daniela Verrigni

Am J Hum Genet· February 2015

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A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
Sara Boenzi, Federica Deodato, Roberta Taurisano, Diego Martinelli, Daniela Verrigni

Clin Chim Acta· November 2014

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Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, Diego Martinelli, Michela Di Nottia, Daniela Verrigni

Mitochondrion· September 2014

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