Works matching AU Valentino, Maria Lucia

Results: 49

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z

By:

Capristo, Mariantonietta;
Del Dotto, Valentina;
Tropeano, Concetta Valentina;
Fiorini, Claudio;
Caporali, Leonardo;
La Morgia, Chiara;
Valentino, Maria Lucia;
Montopoli, Monica;
Carelli, Valerio;
Maresca, Alessandra

Publication type:

Article

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z

By:

Capristo, Mariantonietta;
Del Dotto, Valentina;
Tropeano, Concetta Valentina;
Fiorini, Claudio;
Caporali, Leonardo;
La Morgia, Chiara;
Valentino, Maria Lucia;
Montopoli, Monica;
Carelli, Valerio;
Maresca, Alessandra

Publication type:

Article

OPA1-RELATED AUDITORY NEUROPATHY: SITE OF LESION AND OUTCOME OF COCHLEAR IMPLANTATION.

Published in:

Journal of International Advanced Otology, 2015, v. 11, p. 15

By:

Santarelli, Rosamaria;
Scimemi, Pietro;
Cama, Elona;
Valentino, Maria Lucia;
Morgia, Chiara La;
Caporali, Leonardo;
Liguori, Rocco;
Carelli, Valerio

Publication type:

Article

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.

Published in:

2022

By:

Percetti, Marco;
Franco, Giulia;
Monfrini, Edoardo;
Caporali, Leonardo;
Minardi, Raffaella;
La Morgia, Chiara;
Valentino, Maria Lucia;
Liguori, Rocco;
Palmieri, Ilaria;
Ottaviani, Donatella;
Vizziello, Maria;
Ronchi, Dario;
Di Berardino, Federica;
Cocco, Antoniangela;
Macao, Bertil;
Falkenberg, Maria;
Comi, Giacomo Pietro;
Albanese, Alberto;
Giometto, Bruno;
Valente, Enza Maria

Publication type:

journal article

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.

Published in:

2017

By:

Terlizzi, Rossana;
Valentino, Maria Lucia;
Bartoletti‐Stella, Anna;
Columbaro, Marta;
Piras, Silvia;
Stanzani‐Maserati, Michelangelo;
Quadri, Marialuisa;
Breedveld, Guido J.;
Bonifati, Vincenzo;
Martinelli, Paolo;
Parchi, Piero;
Capellari, Sabina;
Bartoletti-Stella, Anna;
Stanzani-Maserati, Michelangelo

Publication type:

Case Study

Brain diffusion-weighted imaging in Friedreich's ataxia.

Published in:

Movement Disorders, 2011, v. 26, n. 4, p. 705, doi. 10.1002/mds.23518

By:

Rizzo, Giovanni;
Tonon, Caterina;
Valentino, Maria Lucia;
Manners, David;
Fortuna, Filippo;
Gellera, Cinzia;
Pini, Antonella;
Ghezzo, Alessandro;
Baruzzi, Agostino;
Testa, Claudia;
Malucelli, Emil;
Barbiroli, Bruno;
Carelli, Valerio;
Lodi, Raffaele

Publication type:

Article

Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis.

Published in:

Cells (2073-4409), 2021, v. 10, n. 5, p. 1146, doi. 10.3390/cells10051146

By:

Lucchini, Matteo;
Maggi, Lorenzo;
Pegoraro, Elena;
Filosto, Massimiliano;
Rodolico, Carmelo;
Antonini, Giovanni;
Garibaldi, Matteo;
Valentino, Maria Lucia;
Siciliano, Gabriele;
Tasca, Giorgio;
De Arcangelis, Valeria;
De Fino, Chiara;
Mirabella, Massimiliano;
Deschenes, Michael

Publication type:

Article

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy.

Published in:

Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00501

By:

Santarelli, Rosamaria;
La Morgia, Chiara;
Valentino, Maria Lucia;
Barboni, Piero;
Monteleone, Anna;
Scimemi, Pietro;
Carelli, Valerio

Publication type:

Article

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Published in:

2020

By:

Del Dotto, Valentina;
Ullah, Farid;
Di Meo, Ivano;
Magini, Pamela;
Gusic, Mirjana;
Maresca, Alessandra;
Caporali, Leonardo;
Palombo, Flavia;
Tagliavini, Francesca;
Baugh, Evan Harris;
Macao, Bertil;
Szilagyi, Zsolt;
Peron, Camille;
Gustafson, Margaret A.;
Khan, Kamal;
La Morgia, Chiara;
Barboni, Piero;
Carbonelli, Michele;
Valentino, Maria Lucia;
Liguori, Rocco

Publication type:

journal article

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Published in:

Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514

By:

Del Dotto, Valentina;
Ullah, Farid;
Di Meo, Ivano;
Magini, Pamela;
Gusic, Mirjana;
Maresca, Alessandra;
Caporali, Leonardo;
Palombo, Flavia;
Tagliavini, Francesca;
Baugh, Evan Harris;
Macao, Bertil;
Szilagyi, Zsolt;
Peron, Camille;
Gustafson, Margaret A.;
Khan, Kamal;
La Morgia, Chiara;
Barboni, Piero;
Carbonelli, Michele;
Valentino, Maria Lucia;
Liguori, Rocco

Publication type:

Article

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 631

By:

Maria Lucia Valentino;
Piero Barboni;
Anna Ghelli;
Laura Bucchi;
Chiara Rengo;
Alessandro Achilli;
Antonio Torroni;
Alessandra Lugaresi;
Raffaele Lodi;
Bruno Barbiroli;
MariaTeresa Dotti;
Antonio Federico;
Agostino Baruzzi;
Valerio Carelli

Publication type:

Article

Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 719

By:

Raffaele Lodi;
Caterina Tonon;
Maria Lucia Valentino;
Stefano Iotti;
Valeria Clementi;
Emil Malucelli;
Piero Barboni;
Lora Longanesi;
Simone Schimpf;
Bernd Wissinger;
Agostino Baruzzi;
Bruno Barbiroli;
Valerio Carelli

Publication type:

Article

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

Published in:

2002

By:

Valentino, Maria Lucia;
Avoni, Patrizia;
Barboni, Piero;
Pallotti, Francesco;
Rengo, Chiara;
Torroni, Antonio;
Bellan, Marzio;
Baruzzi, Agostino;
Carelli, Valerio

Publication type:

journal article

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Published in:

2017

By:

Cao, Michelangelo;
Donà, Marta;
Lucia Valentino, Maria;
Semplicini, Claudio;
Maresca, Alessandra;
Cassina, Matteo;
Torraco, Alessandra;
Galletta, Eva;
Manfioli, Valeria;
Sorarù, Gianni;
Carelli, Valerio;
Stramare, Roberto;
Bertini, Enrico;
Carrozzo, Rosalba;
Salviati, Leonardo;
Pegoraro, Elena

Publication type:

Erratum

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61735-3

By:

La Morgia, Chiara;
Maresca, Alessandra;
Amore, Giulia;
Gramegna, Laura Ludovica;
Carbonelli, Michele;
Scimonelli, Emanuela;
Danese, Alberto;
Patergnani, Simone;
Caporali, Leonardo;
Tagliavini, Francesca;
Del Dotto, Valentina;
Capristo, Mariantonietta;
Sadun, Federico;
Barboni, Piero;
Savini, Giacomo;
Evangelisti, Stefania;
Bianchini, Claudio;
Valentino, Maria Lucia;
Liguori, Rocco;
Tonon, Caterina

Publication type:

Article

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5

By:

Nashabat, Marwan;
Nabavizadeh, Nasrinsadat;
Saraçoğlu, Hilal Pırıl;
Sarıbaş, Burak;
Avcı, Şahin;
Börklü, Esra;
Beillard, Emmanuel;
Yılmaz, Elanur;
Uygur, Seyide Ecesu;
Kayhan, Cavit Kerem;
Bosco, Luca;
Eren, Zeynep Bengi;
Steindl, Katharina;
Richter, Manuela Friederike;
Bademci, Guney;
Rauch, Anita;
Fattahi, Zohreh;
Valentino, Maria Lucia;
Connolly, Anne M.;
Bahr, Angela

Publication type:

Article

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 7, p. 1, doi. 10.15252/emmm.202216951

By:

Southwell, Nneka;
Primiano, Guido;
Nadkarni, Viraj;
Attarwala, Nabeel;
Beattie, Emelie;
Miller, Dawson;
Alam, Sumaitaah;
Liparulo, Irene;
Shurubor, Yevgeniya I;
Valentino, Maria Lucia;
Carelli, Valerio;
Servidei, Serenella;
Gross, Steven S;
Manfredi, Giovanni;
Chen, Qiuying;
D'Aurelio, Marilena

Publication type:

Article

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.

Published in:

EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399

By:

Pippucci, Tommaso;
Maresca, Alessandra;
Magini, Pamela;
Cenacchi, Giovanna;
Donadio, Vincenzo;
Palombo, Flavia;
Papa, Valentina;
Incensi, Alex;
Gasparre, Giuseppe;
Valentino, Maria Lucia;
Preziuso, Carmela;
Pisano, Annalinda;
Ragno, Michele;
Liguori, Rocco;
Giordano, Carla;
Tonon, Caterina;
Lodi, Raffaele;
Parmeggiani, Antonia;
Carelli, Valerio;
Seri, Marco

Publication type:

Article

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Published in:

FEBS Letters, 2007, v. 581, n. 18, p. 3410, doi. 10.1016/j.febslet.2007.06.042

By:

Valentino, Maria Lucia;
Martı´, Ramon;
Tadesse, Saba;
López, Luis Carlos;
Manes, Jose L.;
Lyzak, Judy;
Hahn, Angelika;
Carelli, Valerio;
Hirano, Michio

Publication type:

Article

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30143-z

By:

Trifunov, Selena;
Pyle, Angela;
Valentino, Maria Lucia;
Liguori, Rocco;
Yu-Wai-Man, Patrick;
Burté, Florence;
Duff , Jennifer;
Kleinle, Stephanie;
Diebold, Isabel;
Rugolo, Michela;
Horvath, Rita;
Carelli, Valerio

Publication type:

Article

The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1322067

By:

Vacchiano, Veria;
Palombo, Flavia;
Ormanbekova, Danara;
Fiorini, Claudio;
Fiorentino, Alessia;
Caporali, Leonardo;
Mastrangelo, Andrea;
Valentino, Maria Lucia;
Capellari, Sabina;
Liguori, Rocco;
Carelli, Valerio

Publication type:

Article

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.

Published in:

Acta Myologica, 2021, v. 40, n. 4, p. 177, doi. 10.36185/2532-1900-061

By:

Scarpini, Gaia;
Lucia Valentino, Maria;
Giannotta, Melania;
Ragni, Luca;
Torella, Annalaura;
Columbaro, Marta;
Nigro, Vincenzo;
Pini, Antonella

Publication type:

Article

Expanding and validating the biomarkers for mitochondrial diseases.

Published in:

Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1467, doi. 10.1007/s00109-020-01967-y

By:

Maresca, Alessandra;
Del Dotto, Valentina;
Romagnoli, Martina;
La Morgia, Chiara;
Di Vito, Lidia;
Capristo, Mariantonietta;
Valentino, Maria Lucia;
Carelli, Valerio

Publication type:

Article

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.

Published in:

Nucleic Acids Research, 2022, v. 50, n. 15, p. 8749, doi. 10.1093/nar/gkac661

By:

Misic, Jelena;
Milenkovic, Dusanka;
Al-Behadili, Ali;
Xie, Xie;
Jiang, Min;
Jiang, Shan;
Filograna, Roberta;
Koolmeister, Camilla;
Siira, Stefan J;
Jenninger, Louise;
Filipovska, Aleksandra;
Clausen, Anders R;
Caporali, Leonardo;
Valentino, Maria Lucia;
La Morgia, Chiara;
Carelli, Valerio;
Nicholls, Thomas J;
Wredenberg, Anna;
Falkenberg, Maria;
Larsson, Nils-Göran

Publication type:

Article

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. e67, doi. 10.1093/brain/awad080

By:

Fiorini, Claudio;
Ormanbekova, Danara;
Palombo, Flavia;
Carbonelli, Michele;
Amore, Giulia;
Romagnoli, Martina;
d'Agati, Pietro;
Valentino, Maria Lucia;
Barboni, Piero;
Cascavilla, Maria Lucia;
Negri, Annamaria De;
Sadun, Federico;
Carta, Arturo;
Testa, Francesco;
Petruzzella, Vittoria;
Guerriero, Silvana;
Marzoli, Stefania Bianchi;
Carelli, Valerio;
Morgia, Chiara La;
Caporali, Leonardo

Publication type:

Article

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Published in:

2018

By:

Caporali, Leonardo;
Bello, Luca;
Tagliavini, Francesca;
Morgia, Chiara La;
Maresca, Alessandra;
Di Vito, Lidia;
Liguori, Rocco;
Valentino, Maria Lucia;
Cecchin, Diego;
Pegoraro, Elena;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Letter

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Published in:

2016

By:

Santarelli, Rosamaria;
Cama, Elona;
Scimemi, Pietro;
La Morgia, Chiara;
Caporali, Leonardo;
Valentino, Maria Lucia;
Liguori, Rocco;
Carelli, Valerio

Publication type:

Letter

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Published in:

2016

By:

Carelli, Valerio;
d'Adamo, Pio;
Valentino, Maria Lucia;
Morgia, Chiara La;
Ross-Cisneros, Fred N.;
Caporali, Leonardo;
Maresca, Alessandra;
Polosa, Paola Loguercio;
Barboni, Piero;
De Negri, Annamaria;
Sadun, Federico;
Karanjia, Rustum;
Salomao, Solange R.;
Berezovsky, Adriana;
Chicani, Filipe;
Moraes, Milton;
Filho, Milton Moraes;
Belfort Jr., Rubens;
Sadun, Alfredo A.;
Yu-Wai-Man, Patrick

Publication type:

commentary

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Published in:

2015

By:

Santarelli, Rosamaria;
Rossi, Roberta;
Scimemi, Pietro;
Cama, Elona;
Valentino, Maria Lucia;
La Morgia, Chiara;
Caporali, Leonardo;
Liguori, Rocco;
Magnavita, Vincenzo;
Monteleone, Anna;
Biscaro, Ariella;
Arslan, Edoardo;
Carelli, Valerio

Publication type:

journal article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Published in:

2014

By:

Giordano, Carla;
Iommarini, Luisa;
Giordano, Luca;
Maresca, Alessandra;
Pisano, Annalinda;
Valentino, Maria Lucia;
Caporali, Leonardo;
Liguori, Rocco;
Deceglie, Stefania;
Roberti, Marina;
Fanelli, Francesca;
Fracasso, Flavio;
Ross-Cisneros, Fred N;
D'Adamo, Pio;
Hudson, Gavin;
Pyle, Angela;
Yu-Wai-Man, Patrick;
Chinnery, Patrick F;
Zeviani, Massimo;
Salomao, Solange R

Publication type:

journal article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343

By:

Giordano, Carla;
Iommarini, Luisa;
Giordano, Luca;
Maresca, Alessandra;
Pisano, Annalinda;
Valentino, Maria Lucia;
Caporali, Leonardo;
Liguori, Rocco;
Deceglie, Stefania;
Roberti, Marina;
Fanelli, Francesca;
Fracasso, Flavio;
Ross-Cisneros, Fred N.;
D’Adamo, Pio;
Hudson, Gavin;
Pyle, Angela;
Yu-Wai-Man, Patrick;
Chinnery, Patrick F.;
Zeviani, Massimo;
Salomao, Solange R.

Publication type:

Article

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e231, doi. 10.1093/brain/aws280

By:

Barboni, Piero;
Valentino, Maria Lucia;
La Morgia, Chiara;
Carbonelli, Michele;
Savini, Giacomo;
De Negri, Annamaria;
Simonelli, Francesca;
Sadun, Federico;
Caporali, Leonardo;
Maresca, Alessandra;
Liguori, Rocco;
Baruzzi, Agostino;
Zeviani, Massimo;
Carelli, Valerio

Publication type:

Article

Idebenone Treatment In Leber's Hereditary Optic Neuropathy.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. e188, doi. 10.1093/brain/awr180

By:

Carelli, Valerio;
La Morgia, Chiara;
Valentino, Maria Lucia;
Rizzo, Giovanni;
Carbonelli, Michele;
De Negri, Anna Maria;
Sadun, Federico;
Carta, Arturo;
Guerriero, Silvana;
Simonelli, Francesca;
Sadun, Alfredo Arrigo;
Aggarwal, Divya;
Liguori, Rocco;
Avoni, Patrizia;
Baruzzi, Agostino;
Zeviani, Massimo;
Montagna, Pasquale;
Barboni, Piero

Publication type:

Article

Visual system involvement in patients with Friedreichs ataxia.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 116, doi. 10.1093/brain/awn269

By:

Filippo Fortuna;
Piero Barboni;
Rocco Liguori;
Maria Lucia Valentino;
Giacomo Savini;
Cinzia Gellera;
Caterina Mariotti;
Giovanni Rizzo;
Caterina Tonon;
David Manners;
Raffaele Lodi;
Alfredo A Sadun;
Valerio Carelli

Publication type:

Article

OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 338, doi. 10.1093/brain/awm298

By:

Patrizia Amati-Bonneau;
Maria Lucia Valentino;
Pascal Reynier;
Maria Esther Gallardo;
Belén Bornstein;
Anne Boissière;
Yolanda Campos;
Henry Rivera;
Jesús González de la Aleja;
Rosanna Carroccia;
Luisa Iommarini;
Pierre Labauge;
Dominique Figarella-Branger;
Pascale Marcorelles;
Alain Furby;
Katell Beauvais;
Franck Letournel;
Rocco Liguori;
Chiara La Morgia;
Pasquale Montagna

Publication type:

Article

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 352, doi. 10.1093/brain/awm335

By:

Claudia Zanna;
Anna Ghelli;
Anna Maria Porcelli;
Mariusz Karbowski;
Richard J. Youle;
Simone Schimpf;
Bernd Wissinger;
Marcello Pinti;
Andrea Cossarizza;
Sara Vidoni;
Maria Lucia Valentino;
Michela Rugolo;
Valerio Carelli

Publication type:

Article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Published in:

2015

By:

Carelli, Valerio;
Musumeci, Olimpia;
Caporali, Leonardo;
Zanna, Claudia;
La Morgia, Chiara;
Del Dotto, Valentina;
Porcelli, Anna Maria;
Rugolo, Michela;
Valentino, Maria Lucia;
Iommarini, Luisa;
Maresca, Alessandra;
Barboni, Piero;
Carbonelli, Michele;
Trombetta, Costantino;
Valente, Enza Maria;
Patergnani, Simone;
Giorgi, Carlotta;
Pinton, Paolo;
Rizzo, Giovanni;
Tonon, Caterina

Publication type:

journal article

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations.

Published in:

Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410

By:

Carelli, Valerio;
Musumeci, Olimpia;
Caporali, Leonardo;
Zanna, Claudia;
La Morgia, Chiara;
Del Dotto, Valentina;
Porcelli, Anna Maria;
Rugolo, Michela;
Valentino, Maria Lucia;
Iommarini, Luisa;
Maresca, Alessandra;
Barboni, Piero;
Carbonelli, Michele;
Trombetta, Costantino;
Valente, Enza Maria;
Patergnani, Simone;
Giorgi, Carlotta;
Pinton, Paolo;
Rizzo, Giovanni;
Tonon, Caterina

Publication type:

Article

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 704, doi. 10.1002/acn3.51259

By:

Licchetta, Laura;
Ferri, Lorenzo;
La Morgia, Chiara;
Zenesini, Corrado;
Caporali, Leonardo;
Lucia Valentino, Maria;
Minardi, Raffaella;
Fulitano, Daniela;
Di Vito, Lidia;
Mostacci, Barbara;
Alvisi, Lara;
Avoni, Patrizia;
Liguori, Rocco;
Tinuper, Paolo;
Bisulli, Francesca;
Carelli, Valerio

Publication type:

Article

Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1893, doi. 10.1002/acn3.50888

By:

Ronchi, Dario;
Liu, Changwei;
Caporali, Leonardo;
Piga, Daniela;
Li, Hongzhi;
Tagliavini, Francesca;
Valentino, Maria Lucia;
Ferrò, Maria Teresa;
Bini, Paola;
Zheng, Li;
Carelli, Valerio;
Shen, Binghui;
Comi, Giacomo Pietro

Publication type:

Article

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Published in:

2020

By:

La Morgia, Chiara;
Maresca, Alessandra;
Amore, Giulia;
Gramegna, Laura Ludovica;
Carbonelli, Michele;
Scimonelli, Emanuela;
Danese, Alberto;
Patergnani, Simone;
Caporali, Leonardo;
Tagliavini, Francesca;
Del Dotto, Valentina;
Capristo, Mariantonietta;
Sadun, Federico;
Barboni, Piero;
Savini, Giacomo;
Evangelisti, Stefania;
Bianchini, Claudio;
Valentino, Maria Lucia;
Liguori, Rocco;
Tonon, Caterina

Publication type:

Correction Notice

A Novel Null Homozygous Mutation ConfirmsCACNA2D2 as a Gene Mutated in Epileptic Encephalopathy.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082154

By:

Pippucci, Tommaso;
Parmeggiani, Antonia;
Palombo, Flavia;
Maresca, Alessandra;
Angius, Andrea;
Crisponi, Laura;
Cucca, Francesco;
Liguori, Rocco;
Valentino, Maria Lucia;
Seri, Marco;
Carelli, Valerio

Publication type:

Article

Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050230

By:

Rizzo, Giovanni;
Tozer, Kevin R.;
Tonon, Caterina;
Manners, David;
Testa, Claudia;
Malucelli, Emil;
Valentino, Maria Lucia;
La Morgia, Chiara;
Barboni, Piero;
Randhawa, Ruvdeep S.;
Ross-Cisneros, Fred N.;
Sadun, Alfredo A.;
Carelli, Valerio;
Lodi, Raffaele

Publication type:

Article

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242

By:

Achilli, Alessandro;
Iommarini, Luisa;
Olivieri, Anna;
Pala, Maria;
Kashani, Baharak Hooshiar;
Reynier, Pascal;
Morgia, Chiara La;
Valentino, Maria Lucia;
Liguori, Rocco;
Pizza, Fabio;
Barboni, Piero;
Sadun, Federico;
De Negri, Anna Maria;
Zeviani, Massimo;
Dollfus, Helene;
Moulignier, Antoine;
Ducos, Ghislaine;
Orssaud, Christophe;
Bonneau, Dominique;
Procaccio, Vincent

Publication type:

Article

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 1116, doi. 10.3390/ijms26031116

By:

Tropeano, Concetta Valentina;
La Morgia, Chiara;
Achilli, Alessandro;
Iommarini, Luisa;
Tioli, Gaia;
Caporali, Leonardo;
Olivieri, Anna;
Valentino, Maria Lucia;
Liguori, Rocco;
Barboni, Piero;
Martinuzzi, Andrea;
Tonon, Caterina;
Lodi, Raffaele;
Torroni, Antonio;
Carelli, Valerio;
Ghelli, Anna Maria

Publication type:

Article

The relevance of migraine in the clinical spectrum of mitochondrial disorders.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08206-z

By:

Terrin, Alberto;
Bello, Luca;
Valentino, Maria Lucia;
Caporali, Leonardo;
Sorarù, Gianni;
Carelli, Valerio;
Maggioni, Ferdinando;
Zeviani, Massimo;
Pegoraro, Elena

Publication type:

Article

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy.

Published in:

PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007210

By:

Caporali, Leonardo;
Iommarini, Luisa;
La Morgia, Chiara;
Olivieri, Anna;
Achilli, Alessandro;
Maresca, Alessandra;
Valentino, Maria Lucia;
Capristo, Mariantonietta;
Tagliavini, Francesca;
Del Dotto, Valentina;
Zanna, Claudia;
Liguori, Rocco;
Barboni, Piero;
Carbonelli, Michele;
Cocetta, Veronica;
Montopoli, Monica;
Martinuzzi, Andrea;
Cenacchi, Giovanna;
De Michele, Giuseppe;
Testa, Francesco

Publication type:

Article

A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596

By:

Carossa, Valeria;
Ghelli, Anna;
Tropeano, Concetta Valentina;
Valentino, Maria Lucia;
Iommarini, Luisa;
Maresca, Alessandra;
Caporali, Leonardo;
La Morgia, Chiara;
Liguori, Rocco;
Barboni, Piero;
Carbonelli, Michele;
Rizzo, Giovanni;
Tonon, Caterina;
Lodi, Raffaele;
Martinuzzi, Andrea;
Nardo, Vera;
Rugolo, Michela;
Ferretti, Luca;
Gandini, Francesca;
Pala, Maria

Publication type:

Article

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071

By:

Carelli, Valerio;
Schimpf, Simone;
Fuhrmann, Nico;
Valentino, Maria Lucia;
Zanna, Claudia;
Iommarini, Luisa;
Papke, Monika;
Schaich, Simone;
Tippmann, Sabine;
Baumann, Britta;
Barboni, Piero;
Longanesi, Lora;
Rugolo, Michela;
Ghelli, Anna;
Alavi, Marcel V.;
Youle, Richard J.;
Bucchi, Laura;
Carroccia, Rosanna;
Giannoccaro, Maria Pia;
Tonon, Caterina

Publication type:

Article