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

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Bio

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.

Research Interests

Papers共 184 篇Author StatisticsCo-AuthorSimilar Experts

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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 Lamantea,Daniele Ghezzi,Anna Ardissone,Giovanna Zorzi

Movement disorders clinical practiceno. 6 (2025): 863-866

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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

Sonia Figuccia,Rossella Izzo,Andrea Legati,Alessia Nasca,Paola Goffrini,Daniele Ghezzi,Camilla Ceccatelli Berti

Human molecular genetics（2024）

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Systematic Analysis of NDUFAF6 in Complex I Assembly and Mitochondrial Disease

Andrew Y. Sung,Rachel M. Guerra,Laura H. Steenberge,Charlotte L. Alston,Kei Murayama,Yasushi Okazaki,Masaru Shimura,Holger Prokisch,Daniele Ghezzi,Alessandra Torraco,Rosalba Carrozzo,Agnes Roetig,Robert W. Taylor,James L. Keck,David J. Pagliarini

NATURE METABOLISMno. 6 (2024)

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Biallelic USP14 Variants Cause a Syndromic Neurodevelopmental Disorder

Genetics in Medicinepp.101120-101120, (2024)

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A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood

Giulia Ferrera,Rossella Izzo,Daniele Ghezzi,Lorenzo Nanetti,Eleonora Lamantea,Anna Ardissone

NEUROPEDIATRICS（2024）

Cited2Views0WOSBibtex

Digenic Leigh Syndrome on the Background of the M.11778g>a Leber Hereditary Optic Neuropathy Variant

BRAINno. 6 (2024): 1967-1974

Cited3Views0WOSBibtex

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