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Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
Published in:
Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798
By:
- De Rose, Domenico Umberto;
- Ronci, Sara;
- Caoci, Stefano;
- Maddaloni, Chiara;
- Diodato, Daria;
- Catteruccia, Michela;
- Fattori, Fabiana;
- Bosco, Luca;
- Pro, Stefano;
- Savarese, Immacolata;
- Bersani, Iliana;
- Randi, Franco;
- Trozzi, Marilena;
- Meucci, Duino;
- Calzolari, Flaminia;
- Salvatori, Guglielmo;
- Solinas, Agostina;
- Dotta, Andrea;
- Campi, Francesca
Publication type:
Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Published in:
2017
By:
- Nasca, Alessia;
- Rizza, Teresa;
- Doimo, Mara;
- Legati, Andrea;
- Ciolfi, Andrea;
- Diodato, Daria;
- Calderan, Cristina;
- Carrara, Gianfranco;
- Lamantea, Eleonora;
- Aiello, Chiara;
- Di Nottia, Michela;
- Niceta, Marcello;
- Lamperti, Costanza;
- Ardissone, Anna;
- Bianchi-Marzoli, Stefania;
- Iarossi, Giancarlo;
- Bertini, Enrico;
- Moroni, Isabella;
- Tartaglia, Marco;
- Salviati, Leonardo
Publication type:
journal article
The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
By:
- Martinelli, Diego;
- Diodato, Daria;
- Ponzi, Emanuela;
- Monné, Magnus;
- Boenzi, Sara;
- Bertini, Enrico;
- Fiermonte, Giuseppe;
- Dionisi-Vici, Carlo
Publication type:
Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-159
By:
- Sampaolo, Simone;
- Esposito, Teresa;
- Farina, Olimpia;
- Formicola, Daniela;
- Diodato, Daria;
- Gianfrancesco, Fernando;
- Cipullo, Federica;
- Cremone, Gaetana;
- Cirillo, Mario;
- Viscovo, Luca Del;
- Toscano, Antonio;
- Angelini, Corrado;
- Iorio, Giuseppe Di
Publication type:
Article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-91
By:
- Esposito, Teresa;
- Sampaolo, Simone;
- Limongelli, Giuseppe;
- Varone, Antonio;
- Formicola, Daniela;
- Diodato, Daria;
- Farina, Olimpia;
- Napolitano, Filomena;
- Pacileo, Giuseppe;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe
Publication type:
Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Published in:
2013
By:
- Sampaolo, Simone;
- Esposito, Teresa;
- Farina, Olimpia;
- Formicola, Daniela;
- Diodato, Daria;
- Gianfrancesco, Fernando;
- Cipullo, Federica;
- Cremone, Gaetana;
- Cirillo, Mario;
- Del Viscovo, Luca;
- Toscano, Antonio;
- Angelini, Corrado;
- Di Iorio, Giuseppe
Publication type:
journal article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Published in:
2013
By:
- Esposito, Teresa;
- Sampaolo, Simone;
- Limongelli, Giuseppe;
- Varone, Antonio;
- Formicola, Daniela;
- Diodato, Daria;
- Farina, Olimpia;
- Napolitano, Filomena;
- Pacileo, Giuseppe;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe
Publication type:
journal article
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
Published in:
2016
By:
- Dionisi-Vici, Carlo;
- Diodato, Daria;
- Torre, Giuliano;
- Picca, Stefano;
- Pariante, Rosanna;
- Picardo, Sergio Giuseppe;
- Di Meo, Ivano;
- Rizzo, Cristiano;
- Tiranti, Valeria;
- Zeviani, Massimo;
- De Goyet, Jean De Ville;
- Giuseppe Picardo, Sergio;
- De Ville De Goyet, Jean
Publication type:
journal article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Published in:
2016
By:
- Dallabona, Cristina;
- Abbink, Truus E. M.;
- Carrozzo, Rosalba;
- Torraco, Alessandra;
- Legati, Andrea;
- van Berkel, Carola G. M.;
- Niceta, Marcello;
- Langella, Tiziana;
- Verrigni, Daniela;
- Rizza, Teresa;
- Diodato, Daria;
- Piemonte, Fiorella;
- Lamantea, Eleonora;
- Fang, Mingyan;
- Zhang, Jianguo;
- Martinelli, Diego;
- Bevivino, Elsa;
- Dionisi-Vici, Carlo;
- Vanderver, Adeline;
- Philip, Sunny G.
Publication type:
journal article
Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5951, doi. 10.3390/ijms24065951
By:
- Cavestro, Chiara;
- Diodato, Daria;
- Tiranti, Valeria;
- Di Meo, Ivano
Publication type:
Article
Reply to: "Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?" and "Spinal cord and heart involvement in Kearns Sayre Syndrome: which link?".
Published in:
2021
By:
- Pasquini, Luca;
- Guarnera, Alessia;
- Rossi-Espagnet, Maria Camilla;
- Napolitano, Antonio;
- Diodato, Daria;
- Martinelli, Diego;
- Longo, Daniela
Publication type:
Letter
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
Published in:
2020
By:
- Pasquini, Luca;
- Guarnera, Alessia;
- Rossi-Espagnet, Maria Camilla;
- Napolitano, Antonio;
- Martinelli, Diego;
- Deodato, Federica;
- Diodato, Daria;
- Carrozzo, Rosalba;
- Dionisi-Vici, Carlo;
- Longo, Daniela
Publication type:
Correction Notice
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
Published in:
Neuroradiology, 2020, v. 62, n. 10, p. 1315, doi. 10.1007/s00234-020-02501-0
By:
- Luca, Pasquini;
- Alessia, Guarnera;
- Camilla, Rossi-Espagnet Maria;
- Antonio, Napolitano;
- Diego, Martinelli;
- Federica, Deodato;
- Daria, Diodato;
- Rosalba, Carrozzo;
- Carlo, Dionisi-Vici;
- Daniela, Longo
Publication type:
Article
Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive.
Published in:
2020
By:
- Rossi-Espagnet, Maria Camilla;
- Pro, Stefano;
- Martinelli, Diego;
- Diodato, Daria;
- Napolitano, Antonio;
- Longo, Daniela
Publication type:
Letter
Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study.
Published in:
Neuroradiology, 2020, v. 62, n. 2, p. 241, doi. 10.1007/s00234-019-02302-0
By:
- Rossi-Espagnet, Maria Camilla;
- Lucignani, Martina;
- Pasquini, Luca;
- Napolitano, Antonio;
- Pro, Stefano;
- Romano, Andrea;
- Diodato, Daria;
- Martinelli, Diego;
- Longo, Daniela
Publication type:
Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
By:
- Ticci, Chiara;
- Orsucci, Daniele;
- Ardissone, Anna;
- Bello, Luca;
- Bertini, Enrico;
- Bonato, Irene;
- Bruno, Claudio;
- Carelli, Valerio;
- Diodato, Daria;
- Doccini, Stefano;
- Donati, Maria Alice;
- Dosi, Claudia;
- Filosto, Massimiliano;
- Fiorillo, Chiara;
- La Morgia, Chiara;
- Lamperti, Costanza;
- Marchet, Silvia;
- Martinelli, Diego;
- Minetti, Carlo;
- Moggio, Maurizio
Publication type:
Article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Published in:
Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761
By:
- Ghezzi, Daniele;
- Arzuffi, Paola;
- Zordan, Mauro;
- Da Re, Caterina;
- Lamperti, Costanza;
- Benna, Clara;
- D'Adamo, Pio;
- Diodato, Daria;
- Costa, Rodolfo;
- Mariotti, Caterina;
- Uziel, Graziella;
- Smiderle, Cristina;
- Zeviani, Massimo
Publication type:
Article
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0709-3
By:
- Vona, Barbara;
- Maroofian, Reza;
- Bellacchio, Emanuele;
- Najafi, Maryam;
- Thompson, Kyle;
- Alahmad, Ahmad;
- He, Langping;
- Ahangari, Najmeh;
- Rad, Abolfazl;
- Shahrokhzadeh, Sima;
- Bahena, Paulina;
- Mittag, Falk;
- Traub, Frank;
- Movaffagh, Jebrail;
- Amiri, Nafise;
- Doosti, Mohammad;
- Boostani, Reza;
- Shirzadeh, Ebrahim;
- Haaf, Thomas;
- Diodato, Daria
Publication type:
Article
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
Published in:
2019
By:
- Olivieri, Giorgia;
- Pro, Stefano;
- Diodato, Daria;
- Di Capua, Matteo;
- Longo, Daniela;
- Martinelli, Diego;
- Bertini, Enrico;
- Dionisi-Vici, Carlo
Publication type:
journal article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Published in:
2018
By:
- Repp, Birgit M.;
- Mastantuono, Elisa;
- Alston, Charlotte L.;
- Schiff, Manuel;
- Haack, Tobias B.;
- Rötig, Agnes;
- Ardissone, Anna;
- Lombès, Anne;
- Catarino, Claudia B.;
- Diodato, Daria;
- Schottmann, Gudrun;
- Poulton, Joanna;
- Burlina, Alberto;
- Jonckheere, An;
- Munnich, Arnold;
- Rolinski, Boris;
- Ghezzi, Daniele;
- Rokicki, Dariusz;
- Wellesley, Diana;
- Martinelli, Diego
Publication type:
journal article
Age‐related sensory neuropathy in patients with spinal muscular atrophy type 1.
Published in:
Muscle & Nerve, 2021, v. 64, n. 5, p. 599, doi. 10.1002/mus.27389
By:
- Pro, Stefano;
- Tozzi, Alberto Eugenio;
- D'Amico, Adele;
- Catteruccia, Michela;
- Cherchi, Claudio;
- De Luca, Massimiliano;
- Nicita, Francesco;
- Diodato, Daria;
- Cutrera, Renato;
- Bertini, Enrico;
- Valeriani, Massimiliano
Publication type:
Article
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0798-7
By:
- Begliuomini, Chiara;
- Magli, Giorgio;
- Di Rocco, Maja;
- Santorelli, Filippo M.;
- Cassandrini, Denise;
- Nesti, Claudia;
- Deodato, Federica;
- Diodato, Daria;
- Casellato, Susanna;
- Simula, Delia M.;
- Dessì, Veronica;
- Eusebi, Anna;
- Carta, Alessandra;
- Sotgiu, Stefano
Publication type:
Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Published in:
2021
By:
- Ardissone, Anna;
- Bruno, Claudio;
- Diodato, Daria;
- Donati, Alice;
- Ghezzi, Daniele;
- Lamantea, Eleonora;
- Lamperti, Costanza;
- Mancuso, Michelangelo;
- Martinelli, Diego;
- Primiano, Guido;
- Procopio, Elena;
- Rubegni, Anna;
- Santorelli, Filippo;
- Schiaffino, Maria Cristina;
- Servidei, Serenella;
- Tubili, Flavia;
- Bertini, Enrico;
- Moroni, Isabella
Publication type:
journal article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Published in:
Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
By:
- Sinibaldi, Lorenzo;
- Garone, Giacomo;
- Mandarino, Alessandra;
- Iarossi, Giancarlo;
- Chioma, Laura;
- Dentici, Maria Lisa;
- Merla, Giuseppe;
- Agolini, Emanuele;
- Micalizzi, Alessia;
- Mancini, Cecilia;
- Niceta, Marcello;
- Macchiaiolo, Marina;
- Diodato, Daria;
- Onesimo, Roberta;
- Blandino, Rita;
- Delogu, Angelica Bibiana;
- De Rosa, Gabriella;
- Trevisan, Valentina;
- Iademarco, Mariella;
- Zampino, Giuseppe
Publication type:
Article
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Published in:
Annals of Neurology, 2023, v. 94, n. 4, p. 696, doi. 10.1002/ana.26716
By:
- McCormick, Elizabeth M.;
- Keller, Kierstin;
- Taylor, Julie P.;
- Coffey, Alison J.;
- Shen, Lishuang;
- Krotoski, Danuta;
- Harding, Brian;
- Alves, César Augusto Pinheiro Ferreira;
- Ardissone, Anna;
- Bai, Renkui;
- de Barcelos, Isabella Peixoto;
- Bertini, Enrico;
- Bluske, Krista;
- Christodoulou, John;
- Clause, Amanda R.;
- Copeland, William C.;
- Diaz, George A.;
- Diodato, Daria;
- Dulik, Matthew C.;
- Enns, Greg
Publication type:
Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Published in:
Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
By:
- Torraco, Alessandra;
- Ardissone, Anna;
- Invernizzi, Federica;
- Rizza, Teresa;
- Fiermonte, Giuseppe;
- Niceta, Marcello;
- Zanetti, Nadia;
- Martinelli, Diego;
- Vozza, Angelo;
- Verrigni, Daniela;
- Nottia, Michela;
- Lamantea, Eleonora;
- Diodato, Daria;
- Tartaglia, Marco;
- Dionisi-Vici, Carlo;
- Moroni, Isabella;
- Farina, Laura;
- Bertini, Enrico;
- Ghezzi, Daniele;
- Carrozzo, Rosalba
Publication type:
Article
An international classification of inherited metabolic disorders (ICIMD).
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 164, doi. 10.1002/jimd.12348
By:
- Ferreira, Carlos R.;
- Rahman, Shamima;
- Keller, Markus;
- Zschocke, Johannes;
- Abdenur, Jose;
- Ali, Houda;
- Artuch, Rafael;
- Ballabio, Andrea;
- Barshop, Bruce;
- Baumgartner, Matthias;
- Bertini, Enrico Silvio;
- Blau, Nenad;
- Carelli, Valerio;
- Carroll, Christopher;
- Chinnery, Patrick F.;
- Christodoulou, John;
- Cornejo, Veronica;
- Darin, Niklas;
- Derks, Terry;
- Diodato, Daria
Publication type:
Article
Early neurodevelopmental characterization in children with cobalamin C/defect.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 367, doi. 10.1002/jimd.12171
By:
- Ricci, Daniela;
- Martinelli, Diego;
- Ferrantini, Gloria;
- Lucibello, Simona;
- Gambardella, MLuigia;
- Olivieri, Giorgia;
- Chieffo, Daniela;
- Battaglia, Domenica;
- Diodato, Daria;
- Iarossi, Giancarlo;
- Donati, Alice M.;
- Dionisi‐Vici, Carlo;
- Battini, Roberta;
- Mercuri, Eugenio M.
Publication type:
Article
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041
By:
- Huemer, Martina;
- Diodato, Daria;
- Martinelli, Diego;
- Olivieri, Giorgia;
- Blom, Henk;
- Gleich, Florian;
- Kölker, Stefan;
- Kožich, Viktor;
- Morris, Andrew A.;
- Seifert, Burkhardt;
- Froese, D. Sean;
- Baumgartner, Matthias R.;
- Dionisi‐Vici, Carlo;
- Martin, Carlos Alcalde;
- Baethmann, Martina;
- Ballhausen, Diana;
- Blasco‐Alonso, Javier;
- Boy, Nikolas;
- Bueno, Maria;
- Burgos Peláez, Rosa
Publication type:
Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
By:
- Huemer, Martina;
- Diodato, Daria;
- Schwahn, Bernd;
- Schiff, Manuel;
- Bandeira, Anabela;
- Benoist, Jean-Francois;
- Burlina, Alberto;
- Cerone, Roberto;
- Couce, Maria;
- Garcia-Cazorla, Angeles;
- Marca, Giancarlo;
- Pasquini, Elisabetta;
- Vilarinho, Laura;
- Weisfeld-Adams, James;
- Kožich, Viktor;
- Blom, Henk;
- Baumgartner, Matthias;
- Dionisi-Vici, Carlo
Publication type:
Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
By:
- Zheng, Wen-Qiang;
- Pedersen, Signe Vandal;
- Thompson, Kyle;
- Bellacchio, Emanuele;
- French, Courtney E;
- Munro, Benjamin;
- Pearson, Toni S;
- Vogt, Julie;
- Diodato, Daria;
- Diemer, Tue;
- Ernst, Anja;
- Horvath, Rita;
- Chitre, Manali;
- Ek, Jakob;
- Wibrand, Flemming;
- Grange, Dorothy K;
- Raymond, Lucy;
- Zhou, Xiao-Long;
- Taylor, Robert W;
- Ostergaard, Elsebet
Publication type:
Article
Biomarkers for mitochondrial energy metabolism diseases.
Published in:
Essays in Biochemistry, 2018, v. 62, n. 3, p. 443, doi. 10.1042/EBC20170111
By:
- Boenzi, Sara;
- Diodato, Daria
Publication type:
Article
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Published in:
Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
By:
- Torraco, Alessandra;
- Maroofian, Reza;
- Rötig, Agnès;
- Bertini, Enrico;
- Ghezzi, Daniele;
- Carrozzo, Rosalba;
- Diodato, Daria
Publication type:
Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
By:
- Verrigni, Daniela;
- Di Nottia, Michela;
- Ardissone, Anna;
- Baruffini, Enrico;
- Nasca, Alessia;
- Legati, Andrea;
- Bellacchio, Emanuele;
- Fagiolari, Gigliola;
- Martinelli, Diego;
- Fusco, Lucia;
- Battaglia, Domenica;
- Trani, Giulia;
- Versienti, Gianmarco;
- Marchet, Silvia;
- Torraco, Alessandra;
- Rizza, Teresa;
- Verardo, Margherita;
- D'Amico, Adele;
- Diodato, Daria;
- Moroni, Isabella
Publication type:
Article
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.
Published in:
Human Mutation, 2014, v. 35, n. 8, p. 983, doi. 10.1002/humu.22590
By:
- Diodato, Daria;
- Melchionda, Laura;
- Haack, Tobias B.;
- Dallabona, Cristina;
- Baruffini, Enrico;
- Donnini, Claudia;
- Granata, Tiziana;
- Ragona, Francesca;
- Balestri, Paolo;
- Margollicci, Maria;
- Lamantea, Eleonora;
- Nasca, Alessia;
- Powell, Christopher A.;
- Minczuk, Michal;
- Strom, Tim M.;
- Meitinger, Thomas;
- Prokisch, Holger;
- Lamperti, Costanza;
- Zeviani, Massimo;
- Ghezzi, Daniele
Publication type:
Article
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.
Published in:
Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01359-7
By:
- Ghirardo, Sergio;
- Sabatini, Letizia;
- Onofri, Alessandro;
- Testa, Maria Beatrice Chiarini;
- Paglietti, Maria Giovanna;
- Diodato, Daria;
- Travaglini, Lorena;
- Stregapede, Fabrizia;
- Ciofi degli Atti, Marta Luisa;
- Cherchi, Claudio;
- Cutrera, Renato
Publication type:
Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Published in:
Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
By:
- Ticci, Chiara;
- Sicca, Federico;
- Ardissone, Anna;
- Bertini, Enrico;
- Carelli, Valerio;
- Diodato, Daria;
- Di Vito, Lidia;
- Filosto, Massimiliano;
- La Morgia, Chiara;
- Lamperti, Costanza;
- Martinelli, Diego;
- Moroni, Isabella;
- Musumeci, Olimpia;
- Orsucci, Daniele;
- Pancheri, Elia;
- Peverelli, Lorenzo;
- Primiano, Guido;
- Rubegni, Anna;
- Servidei, Serenella;
- Siciliano, Gabriele
Publication type:
Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
By:
- Di Nottia, Michela;
- Rizza, Teresa;
- Baruffini, Enrico;
- Nesti, Claudia;
- Torraco, Alessandra;
- Diodato, Daria;
- Martinelli, Diego;
- Canto, Flavio Dal;
- Gilea, Alexandru Ionut;
- Zoccola, Martina;
- Siri, Barbara;
- Dionisi-Vici, Carlo;
- Bertini, Enrico;
- Santorelli, Filippo Maria;
- Goffrini, Paola;
- Carrozzo, Rosalba
Publication type:
Article
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Published in:
International Journal of Cell Biology, 2014, p. 1, doi. 10.1155/2014/787956
By:
- Diodato, Daria;
- Ghezzi, Daniele;
- Tiranti, Valeria
Publication type:
Article
Common variants in the regulative regions ofGRIA1 and GRIA3 receptor genes are associatedwith migraine susceptibility.
Published in:
BMC Medical Genetics, 2010, v. 11, p. 103, doi. 10.1186/1471-2350-11-103
By:
- Formicola, Daniela;
- Aloia, Andrea;
- Sampaolo, Simone;
- Farina, Olimpia;
- Diodato, Daria;
- Griffiths, Lyn R.;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe;
- Esposito, Teresa
Publication type:
Article

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