Andrea Legati

Affiliations

Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Publications (24)

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Human mutation

Avec: Daniela Verrigni , Michela Di Nottia , Anna Ardissone , Enrico Baruffini , Alessia Nasca , Emanuele Bellacchio , Gigliola Fagiolari , Diego Martinelli , Lucia Fusco , Domenica Battaglia , Giulia Trani , Gianmarco Versienti , Silvia Marchet , Alessandra Torraco , Teresa Rizza , Margherita Verardo , Adele D'Amico , Daria Diodato , Isabella Moroni , Costanza Lamperti , Stefania Petrini , Maurizio Moggio , Paola Goffrini , Daniele Ghezzi , Rosalba Carrozzo , Enrico Bertini

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

Current neurology and neuroscience reports

Avec: A Legati , D Ghezzi

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

Human molecular genetics

Avec: Sonia Figuccia , Rossella Izzo , Alessia Nasca , Paola Goffrini , Daniele Ghezzi , Camilla Ceccatelli Berti

Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered Platform.

Advanced healthcare materials

Avec: Cathleen Hagemann , Carmen Moreno Gonzalez , Ludovica Guetta , Giulia Tyzack , Ciro Chiappini , Rickie Patani , Andrea Serio

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

Cerebellum (London, England)

Avec: Fabiana Colucci , Marcella Neri , Fernanda Fortunato , Alessandra Ferlini , Rosalba Carrozzo , Alessandra Torraco , Eleonora Lamantea , Ginevra Tecilla , Maura Pugliatti , Mariachiara Sensi

Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.

Methods in molecular biology (Clifton, N.J.)

Avec: Daniele Ghezzi , Carlo Viscomi

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.

Stem cell research

Avec: Camille Peron , Andrea Cavaliere , Chiara Fasano , Angelo Iannielli , Manuela Spagnolo , Maria Nicol Colombo , Ambra Rizzo , Francesca L Sciacca , Valerio Carelli , Vania Broccoli , Costanza Lamperti , Valeria Tiranti

CPEO and Mitochondrial Myopathy in a Patient with

Case reports in neurological medicine

Avec: V Montano , C Simoncini , Cassi L Calì , A Legati , G Siciliano , M Mancuso

Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.

Stem cell research

Avec: Camille Peron , Roberta Mauceri , Angelo Iannielli , Andrea Cavaliere , Ambra Rizzo , Francesca L Sciacca , Vania Broccoli , Valeria Tiranti

Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA.

The Journal of molecular diagnostics : JMD

Avec: Nadia Zanetti , Alessia Nasca , Camille Peron , Costanza Lamperti , Eleonora Lamantea , Daniele Ghezzi

Biallelic Variants in

Cells

Avec: Alessia Nasca , Megi Meneri , Melisa Emel Ermert , Chiara Frascarelli , Nadia Zanetti , Manuela Garbellini , Giacomo Pietro Comi , Alessia Catania , Costanza Lamperti , Dario Ronchi , Daniele Ghezzi

De Novo

International journal of molecular sciences

Avec: Beatrice Berti , Daniela Verrigni , Alessia Nasca , Michela Di Nottia , Daniela Leone , Alessandra Torraco , Teresa Rizza , Emanuele Bellacchio , Concetta Palermo , Silvia Marchet , Costanza Lamperti , Antonio Novelli , Eugenio Maria Mercuri , Enrico Silvio Bertini , Marika Pane , Daniele Ghezzi , Rosalba Carrozzo

A likely pathogenic variant in the

Annals of clinical and translational neurology

Avec: Simon Lamquet , Eliana M Ramos , Giovanni Coppola , Dimitri Hemelsoet , Olivier M Vanakker

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Annals of neurology

Avec: Leonardo Caporali , Stefania Magri , Valentina Del Dotto , Francesca Tagliavini , Francesca Balistreri , Alessia Nasca , Chiara La Morgia , Michele Carbonelli , Maria L Valentino , Eleonora Lamantea , Silvia Baratta , Ludger Schöls , Rebecca Schüle , Piero Barboni , Maria L Cascavilla , Alessandra Maresca , Mariantonietta Capristo , Anna Ardissone , Davide Pareyson , Gabriella Cammarata , Lisa Melzi , Massimo Zeviani , Lorenzo Peverelli , Costanza Lamperti , Stefania B Marzoli , Mingyan Fang , Matthis Synofzik , Daniele Ghezzi , Valerio Carelli , Franco Taroni

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Human mutation

Avec: Silvia Marchet , Alessia Nasca , Ivano Di Meo , Manuela Spagnolo , Nadia Zanetti , Eleonora Lamantea , Alessia Catania , Costanza Lamperti , Daniele Ghezzi

Variants in ATP5F1B are associated with dominantly inherited dystonia.

Brain : a journal of neurology

Avec: Alessia Nasca , Niccolò E Mencacci , Federica Invernizzi , Michael Zech , Ignacio J Keller Sarmiento , Chiara Frascarelli , Bernabe I Bustos , Luigi M Romito , Dimitri Krainc , Juliane Winkelmann , Miryam Carecchio , Nardo Nardocci , Giovanna Zorzi , Holger Prokisch , Steven J Lubbe , Barbara Garavaglia , Daniele Ghezzi

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

Genes

Avec: Federica Invernizzi , Rossella Izzo , Isabel Colangelo , Nadia Zanetti , Barbara Garavaglia , Eleonora Lamantea , Lorenzo Peverelli , Anna Ardissone , Isabella Moroni , Lorenzo Maggi , Silvia Bonanno , Laura Fiori , Daniele Velardo , Francesca Magri , Giacomo P Comi , Dario Ronchi , Daniele Ghezzi , Costanza Lamperti

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

American journal of medical genetics. Part A

Avec: Alessia Catania , Lorenzo Peverelli , Lorenzo Nanetti , Silvia Marchet , Nadia Zanetti , Costanza Lamperti , Daniele Ghezzi

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

EMBO molecular medicine

Avec: Ahmad Alahmad , Alessia Nasca , Juliana Heidler , Kyle Thompson , Monika Oláhová , Eleonora Lamantea , Jana Meisterknecht , Manuela Spagnolo , Langping He , Seham Alameer , Fahad Hakami , Abeer Almehdar , Anna Ardissone , Charlotte L Alston , Robert McFarland , Ilka Wittig , Daniele Ghezzi , Robert W Taylor

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

American journal of human genetics

Avec: Zheng Yie Yap , Stephanie Efthymiou , Simone Seiffert , Karen Vargas Parra , Sukyeong Lee , Alessia Nasca , Reza Maroofian , Isabelle Schrauwen , Manuela Pendziwiat , Sunhee Jung , Elizabeth Bhoj , Pasquale Striano , Kshitij Mankad , Barbara Vona , Sanmati Cuddapah , Anja Wagner , Javeria Raza Alvi , Elham Davoudi-Dehaghani , Mohammad-Sadegh Fallah , Srinitya Gannavarapu , Costanza Lamperti , Bibi Nazia Murtaza , Muhammad Shahid Nadeem , Mujaddad Ur Rehman , Kolsoum Saeidi , Vincenzo Salpietro , Sarah von Spiczak , Abigail Sandoval , Sirous Zeinali , Massimo Zeviani , Adi Reich , Auteur inconnu , Auteur inconnu , Cholsoon Jang , Ingo Helbig , Tahsin Stefan Barakat , Daniele Ghezzi , Suzanne M Leal , Yvonne Weber , Henry Houlden , Wan Hee Yoon

A novel

Molecular genetics and metabolism reports

Avec: L Lenzini , M Carecchio , E Iori , A Legati , E Lamantea , A Avogaro , N Vitturi

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

Annals of clinical and translational neurology

Avec: Chiara Cavestro , Francesca Morra , Marco D'Amato , Alessia Nasca , Arcangela Iuso , Naomi Lubarr , Jennifer L Morrison , Patricia G Wheeler , Clara Serra-Juhé , Benjamín Rodríguez-Santiago , Eulalia Turón-Viñas , Clement Prouteau , Magalie Barth , Susan J Hayflick , Daniele Ghezzi , Valeria Tiranti , Ivano Di Meo

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

Orphanet journal of rare diseases

Avec: Daniele Sala , Silvia Marchet , Lorenzo Nanetti , Caterina Mariotti , Eleonora Lamantea , Daniele Ghezzi , Alessia Catania , Costanza Lamperti

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

Frontiers in genetics

Avec: Chiara Frascarelli , Nadia Zanetti , Alessia Nasca , Rossella Izzo , Costanza Lamperti , Eleonora Lamantea , Daniele Ghezzi

Réseau de co-auteurs

Daniele Ghezzi 16 collaborations

Alessia Nasca 12 collaborations

Costanza Lamperti 12 collaborations

Eleonora Lamantea 8 collaborations

Nadia Zanetti 6 collaborations

Silvia Marchet 5 collaborations

Anna Ardissone 4 collaborations

Alessia Catania 4 collaborations

Alessandra Torraco 3 collaborations

Rosalba Carrozzo 3 collaborations

A Legati 3 collaborations

Rossella Izzo 3 collaborations

Camille Peron 3 collaborations

Manuela Spagnolo 3 collaborations

Valeria Tiranti 3 collaborations

Chiara Frascarelli 3 collaborations

Lorenzo Peverelli 3 collaborations

Daniela Verrigni 2 collaborations

Michela Di Nottia 2 collaborations

Emanuele Bellacchio 2 collaborations

Teresa Rizza 2 collaborations

Isabella Moroni 2 collaborations

Paola Goffrini 2 collaborations

Andrea Cavaliere 2 collaborations

Angelo Iannielli 2 collaborations

Ambra Rizzo 2 collaborations

Francesca L Sciacca 2 collaborations

Valerio Carelli 2 collaborations

Vania Broccoli 2 collaborations

Dario Ronchi 2 collaborations

Massimo Zeviani 2 collaborations

Ivano Di Meo 2 collaborations

Federica Invernizzi 2 collaborations

Barbara Garavaglia 2 collaborations

Lorenzo Nanetti 2 collaborations

None None 2 collaborations

Enrico Baruffini 1 collaboration

Gigliola Fagiolari 1 collaboration

Diego Martinelli 1 collaboration

Lucia Fusco 1 collaboration

Domenica Battaglia 1 collaboration

Giulia Trani 1 collaboration

Gianmarco Versienti 1 collaboration

Margherita Verardo 1 collaboration

Adele D'Amico 1 collaboration

Daria Diodato 1 collaboration

Stefania Petrini 1 collaboration

Maurizio Moggio 1 collaboration

Enrico Bertini 1 collaboration

D Ghezzi 1 collaboration

Sonia Figuccia 1 collaboration

Camilla Ceccatelli Berti 1 collaboration

Cathleen Hagemann 1 collaboration

Carmen Moreno Gonzalez 1 collaboration

Ludovica Guetta 1 collaboration

Giulia Tyzack 1 collaboration

Ciro Chiappini 1 collaboration

Rickie Patani 1 collaboration

Andrea Serio 1 collaboration

Fabiana Colucci 1 collaboration

Marcella Neri 1 collaboration

Fernanda Fortunato 1 collaboration

Alessandra Ferlini 1 collaboration

Ginevra Tecilla 1 collaboration

Maura Pugliatti 1 collaboration

Mariachiara Sensi 1 collaboration

Carlo Viscomi 1 collaboration

Chiara Fasano 1 collaboration

Maria Nicol Colombo 1 collaboration

V Montano 1 collaboration

C Simoncini 1 collaboration

Cassi L Calì 1 collaboration

G Siciliano 1 collaboration

M Mancuso 1 collaboration

Roberta Mauceri 1 collaboration

Megi Meneri 1 collaboration

Melisa Emel Ermert 1 collaboration

Manuela Garbellini 1 collaboration

Giacomo Pietro Comi 1 collaboration

Beatrice Berti 1 collaboration

Daniela Leone 1 collaboration

Concetta Palermo 1 collaboration

Antonio Novelli 1 collaboration

Eugenio Maria Mercuri 1 collaboration

Enrico Silvio Bertini 1 collaboration

Marika Pane 1 collaboration

Simon Lamquet 1 collaboration

Eliana M Ramos 1 collaboration

Giovanni Coppola 1 collaboration

Dimitri Hemelsoet 1 collaboration

Olivier M Vanakker 1 collaboration

Leonardo Caporali 1 collaboration

Stefania Magri 1 collaboration

Valentina Del Dotto 1 collaboration

Francesca Tagliavini 1 collaboration

Francesca Balistreri 1 collaboration

Chiara La Morgia 1 collaboration

Michele Carbonelli 1 collaboration

Maria L Valentino 1 collaboration

Silvia Baratta 1 collaboration

Ludger Schöls 1 collaboration

Rebecca Schüle 1 collaboration

Piero Barboni 1 collaboration

Maria L Cascavilla 1 collaboration

Alessandra Maresca 1 collaboration

Mariantonietta Capristo 1 collaboration

Davide Pareyson 1 collaboration

Gabriella Cammarata 1 collaboration

Lisa Melzi 1 collaboration

Stefania B Marzoli 1 collaboration

Mingyan Fang 1 collaboration

Matthis Synofzik 1 collaboration

Franco Taroni 1 collaboration

Niccolò E Mencacci 1 collaboration

Michael Zech 1 collaboration

Ignacio J Keller Sarmiento 1 collaboration

Bernabe I Bustos 1 collaboration

Luigi M Romito 1 collaboration

Dimitri Krainc 1 collaboration

Juliane Winkelmann 1 collaboration

Miryam Carecchio 1 collaboration

Nardo Nardocci 1 collaboration

Giovanna Zorzi 1 collaboration

Holger Prokisch 1 collaboration

Steven J Lubbe 1 collaboration

Isabel Colangelo 1 collaboration

Lorenzo Maggi 1 collaboration

Silvia Bonanno 1 collaboration

Laura Fiori 1 collaboration

Daniele Velardo 1 collaboration

Francesca Magri 1 collaboration

Giacomo P Comi 1 collaboration

Ahmad Alahmad 1 collaboration

Juliana Heidler 1 collaboration

Kyle Thompson 1 collaboration

Monika Oláhová 1 collaboration

Jana Meisterknecht 1 collaboration

Langping He 1 collaboration

Seham Alameer 1 collaboration

Fahad Hakami 1 collaboration

Abeer Almehdar 1 collaboration

Charlotte L Alston 1 collaboration

Robert McFarland 1 collaboration

Ilka Wittig 1 collaboration

Robert W Taylor 1 collaboration

Zheng Yie Yap 1 collaboration

Stephanie Efthymiou 1 collaboration

Simone Seiffert 1 collaboration

Karen Vargas Parra 1 collaboration

Sukyeong Lee 1 collaboration

Reza Maroofian 1 collaboration

Isabelle Schrauwen 1 collaboration

Manuela Pendziwiat 1 collaboration

Sunhee Jung 1 collaboration

Elizabeth Bhoj 1 collaboration

Pasquale Striano 1 collaboration

Kshitij Mankad 1 collaboration

Barbara Vona 1 collaboration

Sanmati Cuddapah 1 collaboration

Anja Wagner 1 collaboration

Javeria Raza Alvi 1 collaboration

Elham Davoudi-Dehaghani 1 collaboration

Mohammad-Sadegh Fallah 1 collaboration

Srinitya Gannavarapu 1 collaboration

Bibi Nazia Murtaza 1 collaboration

Muhammad Shahid Nadeem 1 collaboration

Mujaddad Ur Rehman 1 collaboration

Kolsoum Saeidi 1 collaboration

Vincenzo Salpietro 1 collaboration

Sarah von Spiczak 1 collaboration

Abigail Sandoval 1 collaboration

Sirous Zeinali 1 collaboration

Adi Reich 1 collaboration

Cholsoon Jang 1 collaboration

Ingo Helbig 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Suzanne M Leal 1 collaboration

Yvonne Weber 1 collaboration

Henry Houlden 1 collaboration

Wan Hee Yoon 1 collaboration

L Lenzini 1 collaboration

M Carecchio 1 collaboration

E Iori 1 collaboration

E Lamantea 1 collaboration

A Avogaro 1 collaboration

N Vitturi 1 collaboration

Chiara Cavestro 1 collaboration

Francesca Morra 1 collaboration

Marco D'Amato 1 collaboration

Arcangela Iuso 1 collaboration

Naomi Lubarr 1 collaboration

Jennifer L Morrison 1 collaboration

Patricia G Wheeler 1 collaboration

Clara Serra-Juhé 1 collaboration

Benjamín Rodríguez-Santiago 1 collaboration

Eulalia Turón-Viñas 1 collaboration

Clement Prouteau 1 collaboration

Magalie Barth 1 collaboration

Susan J Hayflick 1 collaboration

Daniele Sala 1 collaboration

Caterina Mariotti 1 collaboration