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Enrico Baruffini on Muck Rack

Enrico Baruffini

As seen in: Nature, Frontiers, MDPI
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Articles

Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation

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By Alexandru Ionut Gilea, Leonardo Salviati, Enrico Baruffini, Mara Doimo, Valentina Fumini, Elena Tacchetto
| Nature Verified
Abstract Routine use of next-generation sequencing has shown that most common phenotypes are genetically heterogeneous and that in many cases, mutations in the same gene may cause markedly different phenotypes. Furthermore, complex clinical presentations are often due to multiple coexisting genetic defects.
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De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

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By Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini
| MDPI
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
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Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment - Cell Death & Disease Original

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By Giovanni Risato, Carlo Viscomi, Andrea Rasola, Luisa Valle, Enrico Baruffini, Francesco Argenton, Raquel Brañas Casas, Tiziana Lodi
| Nature Verified
Abstract The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity.
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