Daniele Ghezzi - Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

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职业迁徙

个人简介

Daniele Ghezzi currently works at the Division of Neurogenetics, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta. Daniele does research in Neurology and Genetics and is the head of the Lab of Neurogenetics and mitochondrial disorders. He is an Associate Professor in Medical Genetics at the Universita degli Studi di Milano, Italy, with teaching activities for courses and specialization schools of the Faculty of Medicine.

研究兴趣

论文共 184 篇作者统计合作学者相似作者

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Intrafamilial Variability in WARS2-Related Disorder: A Family Case

Federica Graziola,Federica Rachele Danti, Giorgia Segre, Morgana Fregonese,Rossella Izzo, Eleonora Lamentea,Daniele Ghezzi,Anna Ardissone,Giovanna Zorzi

Movement disorders clinical practice (2025)

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De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Martina Magistrati,Luisa Zupin,Eleonora Lamantea,Enrico Baruffini,Daniele Ghezzi,Andrea Legati,Fulvio Celsi,Flora Maria Murru,Valeria Capaci, Maurizio Pinamonti, Rossana Bussani,Marco Carrozzi,Cristina Dallabona,Massimo Zeviani, Maria Teresa Bonati

International journal of molecular sciencesno. 2 (2025)

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Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA

Marco Barresi, Giulia Dal Santo,Rossella Izzo, Andrea Zauli,Eleonora Lamantea,Leonardo Caporali,Daniele Ghezzi,Andrea Legati

Biotech (Basel (Switzerland))no. 1 (2025)

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E4F1 Coordinates Pyruvate Metabolism and the Activity of the Elongator Complex to Ensure Translation Fidelity During Brain Development

Michela Di Michele,Aurore Attina, Pierre-Francois Roux,Imene Tabet,Sophie Laguesse, Javier Florido, Morane Houdeville,Armelle Choquet, Betty Encislai,Giuseppe Arena,Carlo De Blasio,Olivia Wendling, Francois-Xavier Frenois,Laura Papon, Lucille Stuani,Maryse Fuentes,Celine Jahannault Talignani, Melanie Rousseau,Justine Guegan, Yoan Buscail,Pierrick Dupre,Henri-Alexandre Michaud,Genevieve Rodier,Floriant Bellvert,Hanna Kulyk,Carole Ferraro Peyret, Hugo Mathieu,Pierre Close,Francesca Rapino,Cedric Chaveroux,Nelly Pirot, Lucie Rubio,Adeline Torro,Tania Sorg,Fabrice Ango,Christophe Hirtz,Vincent Compan,Elise Lebigot,Andrea Legati,Daniele Ghezzi,Laurent Nguyen,Alexandre David,Claude Sardet,Matthieu Lacroix,Laurent Le Cam

NATURE COMMUNICATIONSno. 1 (2025)

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An Inherited Mtdna Rearrangement, Mimicking a Single Large-Scale Deletion, Associated with MIDD and a Primary Cardiological Phenotype

Piervito Lopriore,Andrea Legati, Christiane Michaela Neuhofer, Annalisa Lo Gerfo, Robert Kopajtich, Marco Barresi, Giulia Cecchi, Martin Pavlov, Rossella Izzo, Vincenzo Montano, Maria Adelaide Caligo, Riccardo Berutti,Michelangelo Mancuso,Holger Prokisch,Daniele Ghezzi

Mitochondrion (2025): 102037-102037

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Investigation in Yeast of Novel Variants in Mitochondrial Aminoacyl-Trna Synthetases WARS2, NARS2, and RARS2 Genes Associated with Mitochondrial Diseases