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Andrea Legati

Researcher

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

Research Interests

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Professors in Italy Professors in Cell Biology Cell Biology professors in Italy

Articles (20)

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2026

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2026

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2023

Collaborators (16)

Pierre-François Roux

Institut de Recherche en Cancérologie de Montpellier

FRANCE

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Michela Di Nottia

Researcher

Ospedale Pediatrico Bambino Gesù

ITALY

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Enrico Baruffini

Associate Professor

Università degli Studi di Pavia

ITALY

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Daniele Ghezzi

Professor

University of Milan

ITALY

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Cristina Dallabona

University of Parma

ITALY

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Barbara Garavaglia

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Michela Di Michele

Associate professor

Ecole Nationale Supérieure de Chimie de Montpellier

FRANCE

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Camille Péron

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Alexandre David

Team leader and Research Director

INSERM

FRANCE

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Piervito Lopriore

University Hospital of Pisa

ITALY

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Ivano Di Meo

Senior Researcher

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Christophe Hirtz

professor

University of Montpellier

FRANCE

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Luigi Romito

Professor, Adjunct

University of Milan

ITALY

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Laurent LE CAM

INSERM Délégation régionale Languedoc-Roussillon

FRANCE

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Rosalba Carrozzo

Research Assistant, Head of the Cell Biology Section/Biologist

Ospedale Pediatrico Bambino Gesù

ITALY

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martina magistrati

University of Parma

ITALY

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Andrea Legati

Research Interests

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Articles (20)

Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics

Combining short- and long- read sequencing with machine learning to decipher multiple deletions patterns in mitochondrial disorders

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

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

E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report

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

De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases <i>WARS2</i>, <i>NARS2</i>, and <i>RARS2</i> genes associated with mitochondrial diseases

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

Variants in ATP5F1B are associated with dominantly inherited dystonia

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA

Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing

Collaborators (16)

Pierre-François Roux

Michela Di Nottia

Enrico Baruffini

Daniele Ghezzi

Cristina Dallabona

Barbara Garavaglia

Michela Di Michele

Camille Péron

Alexandre David

Piervito Lopriore

Ivano Di Meo

Christophe Hirtz

Luigi Romito

Laurent LE CAM

Rosalba Carrozzo

martina magistrati

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