Works by Bertini, Enrico

Results: 333

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6

By:

Saier, Christina;
Sansen, Stefaan;
Berghout, Joanne;
Freyler, Kathrin;
Einhorn, Moshe;
Einhorn, Yaron;
Matalonga, Leslie;
Beltran, Sergi;
Novelli, Antonio;
Selvatici, Rita;
Fortunato, Fernanda;
Montanari, Silvia;
Martinez-Fresno, Maria;
Gumus, Gulcin;
Agolini, Emanuele;
Garnier, Nicolas;
Ferlini, Alessandra;
Bertini, Enrico;
Kirschner, Janbernd

Publication type:

Article

Acute quadriplegic myopathy in a 16-month-old child.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 7, p. 611, doi. 10.1111/j.1460-9592.2005.01491.x

By:

Iodice, Francesca;
Salzano, Marco;
Prosperi, Monica;
D'Amico, Adele;
Lauri, Aldo;
Bertini, Enrico

Publication type:

Article

Protein glutathionylation in cellular compartments: A constitutive redox signal.

Published in:

Redox Report, 2012, v. 17, n. 2, p. 63, doi. 10.1179/1351000212Y.0000000009

By:

Petrini, Stefania;
Passarelli, Chiara;
Pastore, Anna;
Tozzi, Giulia;
Coccetti, Marianna;
Colucci, Manuela;
Bianchi, Marzia;
Carrozzo, Rosalba;
Bertini, Enrico;
Piemonte, Fiorella

Publication type:

Article

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report.

Published in:

Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A146

By:

Frusciante, Roberto;
Capuano, Alessandro;
Travaglini, Lorena;
Zanni, Ginevra;
Vigevano, Federico;
Bertini, Enrico;
Valeriani, Massimiliano

Publication type:

Article

A Survey of Domain Knowledge Elicitation in Applied Machine Learning.

Published in:

Multimodal Technologies & Interaction, 2021, v. 5, n. 12, p. 73, doi. 10.3390/mti5120073

By:

Kerrigan, Daniel;
Hullman, Jessica;
Bertini, Enrico

Publication type:

Article

Caspase-dependent apoptosis in Ribloflavin transporter deficiency iPSCs and derived motor neurons.

Published in:

Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-01812-y

By:

Marioli, Chiara;
Muzzi, Maurizio;
Colasuonno, Fiorella;
Fiorucci, Cristian;
Cicolani, Nicolò;
Petrini, Stefania;
Bertini, Enrico;
Tartaglia, Marco;
Compagnucci, Claudia;
Moreno, Sandra

Publication type:

Article

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Published in:

2018

By:

Garibaldi, Matteo;
Fattori, Fabiana;
Bortolotti, Carlo Augusto;
Brochier, Guy;
Labasse, Clemence;
Verardo, Margherita;
Servian-Morilla, Emilia;
Gibellini, Lara;
Pinti, Marcello;
Di Rocco, Giulia;
Raffa, Salvatore;
Pennisi, Elena Maria;
Bertini, Enrico Silvio;
Paradas, Carmen;
Romero, Norma Beatriz;
Antonini, Giovanni

Publication type:

Letter

All glutathione forms are depleted in blood of obese and type 1 diabetic children.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 3, p. 272, doi. 10.1111/j.1399-5448.2011.00806.x

By:

Pastore, Anna;
Ciampalini, Paolo;
Tozzi, Giulia;
Pecorelli, Lia.;
Passarelli, Chiara;
Bertini, Enrico;
Piemonte, Fiorella

Publication type:

Article

Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00849

By:

Schirinzi, Tommaso;
Romano, Alberto;
Favetta, Martina;
Sancesario, Andrea;
Burattini, Riccardo;
Summa, Susanna;
Della Bella, Gessica;
Castelli, Enrico;
Bertini, Enrico;
Petrarca, Maurizio;
Vasco, Gessica

Publication type:

Article

Consensus Statement on Standard of Care for Congenital Myopathies.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 363, doi. 10.1177/0883073812436605

By:

Wang, Ching H.;
Dowling, James J.;
North, Kathryn;
Schroth, Mary K.;
Sejersen, Thomas;
Shapiro, Frederic;
Bellini, Jonathan;
Weiss, Hali;
Guillet, Marc;
Amburgey, Kimberly;
Apkon, Susan;
Bertini, Enrico;
Bonnemann, Carsten;
Clarke, Nigel;
Connolly, Anne M.;
Estournet-Mathiaud, Brigitte;
Fitzgerald, Dominic;
Florence, Julaine M.;
Gee, Richard;
Gurgel-Giannetti, Juliana

Publication type:

Article

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 12, p. 1559, doi. 10.1177/0883073810381924

By:

Wang, Ching H.;
Bonnemann, Carsten G.;
Rutkowski, Anne;
Sejersen, Thomas;
Bellini, Jonathan;
Battista, Vanessa;
Florence, Julaine M.;
Schara, Ulrike;
Schuler, Pamela M.;
Wahbi, Karim;
Aloysius, Annie;
Bash, Robert O.;
Béroud, Christophe;
Bertini, Enrico;
Bushby, Kate;
Cohn, Ronald D.;
Connolly, Anne M.;
Deconinck, Nicolas;
Desguerre, Isabelle;
Eagle, Michelle

Publication type:

Article

Consensus Statement for Standard of Care in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1027, doi. 10.1177/0883073807305788

By:

Wang, Ching H.;
Finkel, Richard S.;
Bertini, Enrico S.;
Schroth, Mary;
Simonds, Anita;
Wong, Brenda;
Aloysius, Annie;
Morrison, Leslie;
Main, Marion;
Crawford, Thomas O.;
Trela, Anthony

Publication type:

Article

Role of Gabapentin in Spinal Muscular Atrophy: Results of a Multicenter, Randomized Italiam Study.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 8, p. 537, doi. 10.1177/08830738030180080501

By:

Merlini, Luciano;
Solari, Alessandra;
Vita, Giuseppe;
Bertini, Enrico;
Minetti, Carlo;
Mongini, Tiziana;
Mazzoni, Elena;
Angelini, Corrado;
Morandi, Lucia

Publication type:

Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Published in:

2017

By:

Pennisi, Elena Maria;
Arca, Marcello;
Bertini, Enrico;
Bruno, Claudio;
Cassandrini, Denise;
D'amico, Adele;
Garibaldi, Matteo;
Gragnani, Francesca;
Maggi, Lorenzo;
Massa, Roberto;
Missaglia, Sara;
Morandi, Lucia;
Musumeci, Olimpia;
Pegoraro, Elena;
Rastelli, Emanuele;
Santorelli, Filippo Maria;
Tasca, Elisabetta;
Tavian, Daniela;
Toscano, Antonio;
Angelini, Corrado

Publication type:

journal 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

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y

By:

Fecarotta, Simona;
Romano, Alfonso;
Casa, Roberto Della;
Giudice, Ennio Del;
Bruschini, Diana;
Mansi, Giuseppina;
Bembi, Bruno;
Dardis, Andrea;
Fiumara, Agata;
Rocco, Maja Di;
Uziel, Graziella;
Ardissone, Anna;
Roccatello, Dario;
Alpa, Mirella;
Bertini, Enrico;
D'Amico, Adele;
Dionisi-Vici, Carlo;
Deodato, Federica;
Caviglia, Stefania;
Federico, Antonio

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

Type I Interferon Signature in NOTCH1‐Related Leukoencephalopathy.

Published in:

Annals of Neurology, 2023, v. 93, n. 5, p. 1041, doi. 10.1002/ana.26631

By:

Nicita, Francesco;
Travaglini, Lorena;
Matteo, Valentina;
Aiello, Chiara;
Longo, Daniela;
Insalaco, Antonella;
Bertini, Enrico;
Prencipe, Giusi

Publication type:

Article

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Published in:

Annals of Neurology, 2022, v. 92, n. 1, p. 138, doi. 10.1002/ana.26359

By:

Deisseroth, Cole A.;
Lerma, Vanesa C.;
Magyar, Christina L.;
Pfliger, Jessica Mae;
Nayak, Aarushi;
Bliss, Nathan D.;
LeMaire, Ashley W.;
Narayanan, Vinodh;
Balak, Christopher;
Zanni, Ginevra;
Valente, Enza Maria;
Bertini, Enrico;
Benke, Paul J.;
Wangler, Michael F.;
Chao, Hsiao‐Tuan

Publication type:

Article

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Published in:

2020

By:

Traschütz, Andreas;
Schirinzi, Tommaso;
Laugwitz, Lucia;
Murray, Nathan H.;
Bingman, Craig A.;
Reich, Selina;
Kern, Jan;
Heinzmann, Anna;
Vasco, Gessica;
Bertini, Enrico;
Zanni, Ginevra;
Durr, Alexandra;
Magri, Stefania;
Taroni, Franco;
Malandrini, Alessandro;
Baets, Jonathan;
Jonghe, Peter;
Ridder, Willem;
Bereau, Matthieu;
Demuth, Stephanie

Publication type:

journal article

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

Published in:

2019

By:

Pane, Marika;
Coratti, Giorgia;
Sansone, Valeria A.;
Messina, Sonia;
Bruno, Claudio;
Catteruccia, Michela;
Sframeli, Maria;
Albamonte, Emilio;
Pedemonte, Marina;
D'Amico, Adele;
Bravetti, Chiara;
Berti, Beatrice;
Brigati, Giorgia;
Tacchetti, Paola;
Salmin, Francesca;
de Sanctis, Roberto;
Lucibello, Simona;
Piastra, Marco;
Genovese, Orazio;
Bertini, Enrico

Publication type:

journal article

Hypomyelinating leukodystrophies: Translational research progress and prospects.

Published in:

Annals of Neurology, 2014, v. 76, n. 1, p. 5, doi. 10.1002/ana.24194

By:

Pouwels, Petra J. W.;
Vanderver, Adeline;
Bernard, Genevieve;
Wolf, Nicole I.;
Dreha‐Kulczewksi, Steffi F.;
Deoni, Sean C. L.;
Bertini, Enrico;
Kohlschütter, Alfried;
Richardson, William;
ffrench‐Constant, Charles;
Köhler, Wolfgang;
Rowitch, David;
Barkovich, A. James

Publication type:

Article

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Published in:

Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632

By:

Barone, Rita;
Aiello, Chiara;
Race, Valérie;
Morava, Eva;
Foulquier, Francois;
Riemersma, Moniek;
Passarelli, Chiara;
Concolino, Daniela;
Carella, Massimo;
Santorelli, Filippo;
Vleugels, Wendy;
Mercuri, Eugenio;
Garozzo, Domenico;
Sturiale, Luisa;
Messina, Sonia;
Jaeken, Jaak;
Fiumara, Agata;
Wevers, Ron A.;
Bertini, Enrico;
Matthijs, Gert

Publication type:

Article

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

Published in:

Annals of Neurology, 2012, v. 71, n. 1, p. 146, doi. 10.1002/ana.22295

By:

Combes, Patricia;
Kammoun, Nadège;
Monnier, Aurélie;
Gonthier-Guéret, Céline;
Giraud, Geneviève;
Bertini, Enrico;
Chahnez, Triki;
Fakhfakh, Faiza;
Boespflug-Tanguy, Odile;
Vaurs-Barrière, Catherine

Publication type:

Article

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 6, p. e91, doi. 10.1111/epi.13772

By:

Trivisano, Marina;
Lucchi, Chiara;
Rustichelli, Cecilia;
Terracciano, Alessandra;
Cusmai, Raffaella;
Ubertini, Grazia Maria;
Giannone, Germana;
Bertini, Enrico Silvio;
Vigevano, Federico;
Gecz, Jozef;
Biagini, Giuseppe;
Specchio, Nicola

Publication type:

Article

PCDH19-related epilepsy in two mosaic male patients.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 3, p. e51, doi. 10.1111/epi.13295

By:

Terracciano, Alessandra;
Trivisano, Marina;
Cusmai, Raffaella;
De Palma, Luca;
Fusco, Lucia;
Compagnucci, Claudia;
Bertini, Enrico;
Vigevano, Federico;
Specchio, Nicola

Publication type:

Article

Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. e53, doi. 10.1111/epi.12967

By:

Trivisano, Marina;
Terracciano, Alessandra;
Milano, Teresa;
Cappelletti, Simona;
Pietrafusa, Nicola;
Bertini, Enrico Silvio;
Vigevano, Federico;
Specchio, Nicola

Publication type:

Article

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. 692, doi. 10.1111/epi.12977

By:

Rubboli, Guido;
Veggiotti, Pierangelo;
Pini, Antonella;
Berardinelli, Angela;
Cantalupo, Gaetano;
Bertini, Enrico;
Tiziano, Francesco Danilo;
D'Amico, Adele;
Piazza, Elena;
Abiusi, Emanuela;
Fiori, Stefania;
Pasini, Elena;
Darra, Francesca;
Gobbi, Giuseppe;
Michelucci, Roberto

Publication type:

Article

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Published in:

Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1251, doi. 10.1111/j.1528-1167.2011.03063.x

By:

Specchio, Nicola;
Marini, Carla;
Terracciano, Alessandra;
Mei, Davide;
Trivisano, Marina;
Sicca, Federico;
Fusco, Lucia;
Cusmai, Raffaella;
Darra, Francesca;
Bernardina, Bernardo Dalla;
Bertini, Enrico;
Guerrini, Renzo;
Vigevano, Federico

Publication type:

Article

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x

By:

Mancardi, Maria Margherita;
Striano, Pasquale;
Gennaro, Elena;
Madia, Francesca;
Paravidino, Roberta;
Scapolan, Sara;
dalla Bernardina, Bernardo;
Bertini, Enrico;
Bianchi, Amedeo;
Capovilla, Giuseppe;
Darra, Francesca;
Elia, Maurizio;
Freri, Elena;
Gobbi, Giuseppe;
Granata, Tiziana;
Guerrini, Renzo;
Pantaleoni, Chiara;
Parmeggiani, Antonia;
Romeo, Antonino;
Santucci, Margherita

Publication type:

Article

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

Published in:

BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9

By:

Schoenmakers, Daphne H.;
Leferink, Prisca S.;
Vanderver, Adeline;
Bonkowsky, Joshua L.;
Krägeloh-Mann, Ingeborg;
Bernard, Geneviève;
Bertini, Enrico;
Fatemi, Ali;
Fogel, Brent L.;
Wolf, Nicole I.;
Skwirut, Donna;
Buck, Allyson;
Holberg, Brett;
Saunier-Vivar, Elise F.;
Rauner, Robert;
Dekker, Hanka;
van Bokhoven, Pieter;
Stellingwerff, Menno D.;
Berkhof, Johannes;
van der Knaap, Marjo S.

Publication type:

Article

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.

Published in:

Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4

By:

Nurchis, Mario Cesare;
Altamura, Gerardo;
Riccardi, Maria Teresa;
Radio, Francesca Clementina;
Chillemi, Giovanni;
Bertini, Enrico Silvio;
Garlasco, Jacopo;
Tartaglia, Marco;
Dallapiccola, Bruno;
Damiani, Gianfranco

Publication type:

Article

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12805

By:

Neugebauer, Julia;
Reinson, Karit;
Bellusci, Marcello;
Park, Julien H.;
Hikmat, Omar;
Bertini, Enrico;
Schiff, Manuel;
Ardissone, Anna;
Darin, Niklas;
Darling, Alejandra;
Diodato, Daria;
Diogo, Luisa;
Kristensen, Erle;
Kieć‐Wilk, Beata;
Macário, Maria Carmo;
Martinelli, Diego;
Messina, Martina;
O'Callaghan, Mar;
Ortigoza‐Escobar, Juan Darío;
Paiva Coelho, Margarida

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

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022

By:

Sharkia, Rajech;
Wierenga, Klaas J.;
Kessel, Amit;
Azem, Abdussalam;
Bertini, Enrico;
Carrozzo, Rosalba;
Torraco, Alessandra;
Goffrini, Paola;
Ceccatelli Berti, Camilla;
McCormick, M. Eileen;
Plecko, Barbara;
Klein, Andrea;
Abela, Lucia;
Hengel, Holger;
Schöls, Ludger;
Shalev, Stavit;
Khayat, Morad;
Mahajnah, Muhammad;
Spiegel, Ronen

Publication type:

Article

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5

By:

Koene, Saskia;
van Bon, Lara;
Bertini, Enrico;
Jimenez‐Moreno, Cecilia;
van der Giessen, Lianne;
de Groot, Imelda;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Wood, Michelle;
Zeman, Jiri;
Janssen, Anjo;
Smeitink, Jan

Publication type:

Article

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5

By:

Koene, Saskia;
van Bon, Lara;
Bertini, Enrico;
Jimenez-Moreno, Cecilia;
van der Giessen, Lianne;
de Groot, Imelda;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Wood, Michelle;
Zeman, Jiri;
Janssen, Anjo;
Smeitink, Jan

Publication type:

Article

TMEM70 deficiency: long-term outcome of 48 patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8

By:

Magner, Martin;
Dvorakova, Veronika;
Tesarova, Marketa;
Mazurova, Stella;
Hansikova, Hana;
Zahorec, Martin;
Brennerova, Katarina;
Bzduch, Vladimir;
Spiegel, Ronen;
Horovitz, Yoseph;
Mandel, Hanna;
Eminoğlu, Fatma;
Mayr, Johannes;
Koch, Johannes;
Martinelli, Diego;
Bertini, Enrico;
Konstantopoulou, Vassiliki;
Smet, Joél;
Rahman, Shamima;
Broomfield, Alexander

Publication type:

Article

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Published in:

2015

By:

Magner, Martin;
Dvorakova, Veronika;
Tesarova, Marketa;
Mazurova, Stella;
Hansikova, Hana;
Zahorec, Martin;
Brennerova, Katarina;
Bzduch, Vladimir;
Spiegel, Ronen;
Horovitz, Yoseph;
Mandel, Hanna;
Eminoğlu, Fatma;
Mayr, Johannes;
Koch, Johannes;
Martinelli, Diego;
Bertini, Enrico;
Konstantopoulou, Vassiliki;
Smet, Joél;
Rahman, Shamima;
Broomfield, Alexander

Publication type:

Erratum

Glutathione metabolism in cobalamin deficiency type C (cblC).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 125, doi. 10.1007/s10545-013-9605-3

By:

Pastore, Anna;
Martinelli, Diego;
Piemonte, Fiorella;
Tozzi, Giulia;
Boenzi, Sara;
Giovamberardino, Gianna;
Petrillo, Sara;
Bertini, Enrico;
Dionisi-Vici, Carlo

Publication type:

Article

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1225, doi. 10.1007/s10545-011-9376-7

By:

Biancheri, Roberta;
Bruno, Claudio;
Cassandrini, Denise;
Bertini, Enrico;
Santorelli, Filippo;
Rossi, Andrea

Publication type:

Article

Mitochondrial dysfunction in central nervous system white matter disorders.

Published in:

Glia (0894-1491), 2014, v. 62, n. 11, p. 1878, doi. 10.1002/glia.22670

By:

Morató, Laia;
Bertini, Enrico;
Verrigni, Daniela;
Ardissone, Anna;
Ruiz, Montse;
Ferrer, Isidre;
Uziel, Graziella;
Pujol, Aurora

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 variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293

By:

Nuovo, Sara;
Baglioni, Valentina;
De Mori, Roberta;
Tardivo, Silvia;
Caputi, Caterina;
Ginevrino, Monia;
Micalizzi, Alessia;
Masuelli, Laura;
Federici, Giulia;
Casella, Antonella;
Lorefice, Elisa;
Anello, Danila;
Tolve, Manuela;
Farini, Donatella;
Bertini, Enrico;
Zanni, Ginevra;
Travaglini, Lorena;
Vasco, Gessica;
Sette, Claudio;
Carducci, Carla

Publication type:

Article

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195

By:

Torraco, Alessandra;
Nasca, Alessia;
Verrigni, Daniela;
Pennisi, Alessandra;
Zaki, Maha S.;
Olivieri, Giorgia;
Assouline, Zahra;
Martinelli, Diego;
Maroofian, Reza;
Rizza, Teresa;
Di Nottia, Michela;
Invernizzi, Federica;
Lamantea, Eleonora;
Longo, Daniela;
Houlden, Henry;
Prokisch, Holger;
Rötig, Agnès;
Dionisi‐Vici, Carlo;
Bertini, Enrico;
Ghezzi, Daniele

Publication type:

Article

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Published in:

Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333

By:

Nuovo, Sara;
Fuiano, Laura;
Micalizzi, Alessia;
Battini, Roberta;
Bertini, Enrico;
Borgatti, Renato;
Caridi, Gianluca;
D'Arrigo, Stefano;
Fazzi, Elisa;
Fischetto, Rita;
Ghiggeri, Gian Marco;
Giordano, Lucio;
Leuzzi, Vincenzo;
Romaniello, Romina;
Signorini, Sabrina;
Stringini, Gilda;
Zanni, Ginevra;
Romani, Marta;
Valente, Enza Maria;
Emma, Francesco

Publication type:

Article

Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.

Published in:

Minerva Pediatrics, 2023, v. 75, n. 1, p. 117, doi. 10.23736/S2724-5276.21.05969-3

By:

BABAN, Anwar;
CICENIA, Marianna;
TRAVAGLINI, Lorena;
CALÌ, Federica;
VASCO, Gessica;
FRANCALANCI, Paola;
NOVELLI, Antonio;
ADORISIO, Rachele;
AMODEO, Antonio;
DALLAPICCOLA, Bruno;
BERTINI, Enrico;
DRAGO, Fabrizio

Publication type:

Article

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211

By:

Wolfe, Amy;
Stimpson, Georgia;
Ramsey, Danielle;
Coratti, Giorgia;
Dunaway Young, Sally;
Mayhew, Anna;
Pane, Marika;
Rohwer, Annemarie;
Muni Lofra, Robert;
Duong, Tina;
O'Reilly, Emer;
Milev, Evelin;
Civitello, Matthew;
Sansone, Valeria A.;
D'Amico, Adele;
Bertini, Enrico;
Messina, Sonia;
Bruno, Claudio;
Albamonte, Emilio;
Mazzone, Elena

Publication type:

Article

New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement.

Published in:

Biomedicines, 2022, v. 10, n. 6, p. 1329, doi. 10.3390/biomedicines10061329

By:

Colasuonno, Fiorella;
Marioli, Chiara;
Tartaglia, Marco;
Bertini, Enrico;
Compagnucci, Claudia;
Moreno, Sandra

Publication type:

Article