Publications by authors named "Daniela Piga"

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Association between Pro26Ser and Inclusion Body Myopathy.
Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli, Patrizia Ciscato

Int J Mol Sci· June 2024

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Case report: A novel variant in a patient with nemaline rods and increased glycogen deposition.
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli

Front Neurol· March 2024

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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Dario Ronchi, Manuela Garbellini, Francesca Magri, Francesca Menni, Megi Meneri, Daniela Piga

Eur J Hum Genet· December 2023

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Prominent muscle involvement in a familial form of mitochondrial disease due to a variant.
Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga

Front Genet· November 2023

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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
Simone Scarcella, Laura Dell'Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniela Piga

BMC Neurol· April 2023

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Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Daniela Piga

Int J Mol Sci· March 2023

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A novel mutation associated with mitochondrial DNA depletion syndrome.
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Daniela Piga

Mol Genet Metab Rep· September 2022

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Case Report: Rare Homozygous Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga

Front Genet· May 2022

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CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Eleonora Mauri, Daniela Piga, Serena Pagliarani, Francesca Magri, Arianna Manini

J Neurol Sci· December 2021

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Early Findings in Neonatal Cases of -Related Congenital Myopathies.
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani

Front Neurol· June 2021

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Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Daniela Piga

Front Genet· August 2020

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Novel mutations in DNA2 associated with myopathy and mtDNA instability.
Dario Ronchi, Changwei Liu, Leonardo Caporali, Daniela Piga, Hongzhi Li

Ann Clin Transl Neurol· September 2019

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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.
Daniela Piga, Sabrina Salani, Francesca Magri, Roberta Brusa, Eleonora Mauri

Ther Adv Neurol Disord· May 2019

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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.
Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Daniela Piga

Front Neurol· January 2019

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Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.
Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga

BMC Neurol· December 2018

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Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature.
Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri

Front Neurol· October 2018

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Mitochondrial dysfunction in Parkinsonian mesenchymal stem cells impairs differentiation.
Plamena R Angelova, Mario Barilani, Christopher Lovejoy, Marta Dossena, Mariele Viganò, Daniela Piga

Redox Biol· April 2018

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Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Dario Ronchi, Daniela Piga, Stefano Lamberti, Monica Sciacco, Stefania Corti

Brain· January 2018

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Linezolid-induced lactic acidosis: the thin line between bacterial and mitochondrial ribosomes.
Alessandro Santini, Dario Ronchi, Manuela Garbellini, Daniela Piga, Alessandro Protti

Expert Opin Drug Saf· July 2017

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Developmental transcription factor NFIB is a putative target of oncofetal miRNAs and is associated with tumour aggressiveness in lung adenocarcinoma.
Daiana D Becker-Santos, Kelsie L Thu, John C English, Larissa A Pikor, Victor D Martinez, Daniela Piga

J Pathol· October 2016

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Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Federica Rizzo, Dario Ronchi, Sabrina Salani, Monica Nizzardo, Francesco Fortunato, Daniela Piga

Hum Mol Genet· October 2016

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New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Daniela Piga, Francesca Magri, Dario Ronchi, Stefania Corti, Denise Cassandrini

J Mol Neurosci· July 2016

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Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Lucia Valente, Daniela Piga, Eleonora Lamantea, Franco Carrara, Graziella Uziel

Biochim Biophys Acta· May 2009

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LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Claudia Di Blasi, Daniela Piga, Paolo Brioschi, Isabella Moroni, Antonella Pini

Arch Neurol· October 2005

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