Works matching AU Bertini, Enrico

Results: 335

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.

Published in:

Drugs in R&D, 2025, v. 25, n. 2, p. 99, doi. 10.1007/s40268-025-00512-x

By:

Bello, Luca;
Riguzzi, Pietro;
Albamonte, Emilio;
Astrea, Guja;
Battini, Roberta;
Barp, Andrea;
Berardinelli, Angela L.;
Bertini, Enrico S.;
Brolatti, Noemi;
Bruno, Claudio;
Corti, Stefania;
D'Amico, Adele;
D'Angelo, Maria Grazia;
Dallavalle, Gianfranco;
Liguori, Rocco;
Maggi, Lorenzo;
Magri, Francesca;
Mancuso, Michelangelo;
Masson, Riccardo;
Mercuri, Eugenio

Publication type:

Article

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.

Published in:

Epileptic Disorders, 2011, v. 13, n. 3, p. 259, doi. 10.1684/epd.2011.0461

By:

Rosa, Gabriella;
Messina, Sonia;
D'Amico, Adele;
Bertini, Enrico;
Pustorino, Giuseppina;
Spanò, Maria;
Tortorella, Gaetano

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

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9

By:

Travaglini, Lorena;
Aiello, Chiara;
Stregapede, Fabrizia;
D’Amico, Adele;
Alesi, Viola;
Ciolfi, Andrea;
Bruselles, Alessandro;
Catteruccia, Michela;
Pizzi, Simone;
Zanni, Ginevra;
Loddo, Sara;
Barresi, Sabina;
Vasco, Gessica;
Tartaglia, Marco;
Bertini, Enrico;
Nicita, Francesco

Publication type:

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

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

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x

By:

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

Publication type:

Article

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

Published in:

2016

By:

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

Publication type:

Erratum

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.

Published in:

Neurogenetics, 2014, v. 15, n. 1, p. 41, doi. 10.1007/s10048-013-0381-x

By:

Arnedo, Tanit;
Aiello, Chiara;
Jeworutzki, Elena;
Dentici, Maria;
Uziel, Graziella;
Simonati, Alessandro;
Pusch, Michael;
Bertini, Enrico;
Estévez, Raúl

Publication type:

Article

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 77, doi. 10.1007/s10048-012-0352-7

By:

Quattrocchi, Carlo;
Zanni, Ginevra;
Napolitano, Antonio;
Longo, Daniela;
Cordelli, Duccio;
Barresi, Sabina;
Randisi, Francesco;
Valente, Enza;
Verdolotti, Tommaso;
Genovese, Elisabetta;
Specchio, Nicola;
Vitiello, Giuseppina;
Spiegel, Ronen;
Bertini, Enrico;
Bernardi, Bruno

Publication type:

Article

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8

By:

Torraco, Alessandra;
Verrigni, Daniela;
Rizza, Teresa;
Meschini, Maria;
Vazquez-Memije, Martha;
Martinelli, Diego;
Bianchi, Marzia;
Piemonte, Fiorella;
Dionisi-Vici, Carlo;
Santorelli, Filippo;
Bertini, Enrico;
Carrozzo, Rosalba

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z

By:

Mancini, Cecilia;
Vaula, Giovanna;
Scalzitti, Laura;
Cavalieri, Simona;
Bertini, Enrico;
Aiello, Chiara;
Lucchini, Cinzia;
Gatti, Richard;
Brussino, Alessandro;
Brusco, Alfredo

Publication type:

Article

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8

By:

Zanni, Ginevra;
Barresi, Sabina;
Travaglini, Lorena;
Bernardini, Laura;
Rizza, Teresa;
Digilio, Maria;
Mercuri, Eugenio;
Cianfarani, Stefano;
Valeriani, Massimiliano;
Ferraris, Alessandro;
Sacco, Letizia;
Novelli, Antonio;
Valente, Enza;
Dallapiccola, Bruno;
Bertini, Enrico

Publication type:

Article

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2

By:

Ferreira, Mariana;
Torraco, Alessandra;
Rizza, Teresa;
Fattori, Fabiana;
Meschini, Maria;
Castana, Cinzia;
Go, Nancy;
Nargang, Frank;
Duarte, Margarida;
Piemonte, Fiorella;
Dionisi-Vici, Carlo;
Videira, Arnaldo;
Vilarinho, Laura;
Santorelli, Filippo;
Carrozzo, Rosalba;
Bertini, Enrico

Publication type:

Article

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y

By:

Cannelli, Natalia;
Cassandrini, Denise;
Bertini, Enrico;
Striano, Pasquale;
Fusco, Lucia;
Gaggero, Roberto;
Specchio, Nicola;
Biancheri, Roberta;
Vigevano, Federico;
Bruno, Claudio;
Simonati, Alessandro;
Zara, Federico;
Santorelli, Filippo M.

Publication type:

Article

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1

By:

Combes, Patricia;
Bonnet-Dupeyron, Marie-Noelle;
Gauthier-Barichard, Fernande;
Schiffmann, Raphael;
Bertini, Enrico;
Rodriguez, Diana;
Armour, John;
Boespflug-Tanguy, Odile;
Vaurs-Barrière, Catherine

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

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777

By:

Saoura, Makenzie;
Powell, Christopher A.;
Kopajtich, Robert;
Alahmad, Ahmad;
AL‐Balool, Haya H.;
Albash, Buthaina;
Alfadhel, Majid;
Alston, Charlotte L.;
Bertini, Enrico;
Bonnen, Penelope E.;
Bratkovic, Drago;
Carrozzo, Rosalba;
Donati, Maria A.;
Di Nottia, Michela;
Ghezzi, Daniele;
Goldstein, Amy;
Haan, Eric;
Horvath, Rita;
Hughes, Joanne;
Invernizzi, Federica

Publication type:

Article

Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398

By:

Bruni, Francesco;
Di Meo, Ivano;
Bellacchio, Emanuele;
Webb, Bryn D.;
McFarland, Robert;
Chrzanowska‐Lightowlers, Zofia M. A.;
He, Langping;
Skorupa, Ewa;
Moroni, Isabella;
Ardissone, Anna;
Walczak, Anna;
Tyynismaa, Henna;
Isohanni, Pirjo;
Mandel, Hanna;
Prokisch, Holger;
Haack, Tobias;
Bonnen, Penelope E.;
Enrico, Bertini;
Pronicka, Ewa;
Ghezzi, Daniele

Publication type:

Article

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Published in:

Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860

By:

Zanni, Ginevra;
Kalscheuer, Vera M.;
Friedrich, Andreas;
Barresi, Sabina;
Alfieri, Paolo;
Di Capua, Matteo;
Haas, Stefan A.;
Piccini, Giorgia;
Karl, Thomas;
Klauck, Sabine M.;
Bellacchio, Emanuele;
Emma, Francesco;
Cappa, Marco;
Bertini, Enrico;
Breitenbach‐Koller, Lore

Publication type:

Article

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.

Published in:

Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554

By:

Marttila, Minttu;
Lehtokari, Vilma‐Lotta;
Marston, Steven;
Nyman, Tuula A.;
Barnerias, Christine;
Beggs, Alan H.;
Bertini, Enrico;
Ceyhan‐Birsoy, Özge;
Cintas, Pascal;
Gerard, Marion;
Gilbert‐Dussardier, Brigitte;
Hogue, Jacob S.;
Longman, Cheryl;
Eymard, Bruno;
Frydman, Moshe;
Kang, Peter B.;
Klinge, Lars;
Kolski, Hanna;
Lochmüller, Hans;
Magy, Laurent

Publication type:

Article

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. E2294, doi. 10.1002/humu.21567

By:

Pirozzi, Filomena;
Di Raimo, Francesca Romana;
Zanni, Ginevra;
Bertini, Enrico;
Billuart, Pierre;
Tartaglione, Tommaso;
Tabolacci, Elisabetta;
Brancaccio, Andrea;
Neri, Giovanni;
Chiurazzi, Pietro

Publication type:

Article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1319, doi. 10.1002/humu.21239

By:

Iannicelli, Miriam;
Brancati, Francesco;
Mougou-Zerelli, Soumaya;
Mazzotta, Annalisa;
Thomas, Sophie;
Elkhartoufi, Nadia;
Travaglini, Lorena;
Gomes, Céline;
Luigi Ardissino, Gian;
Bertini, Enrico;
Boltshauser, Eugen;
Castorina, Pierangela;
D'Arrigo, Stefano;
Fischetto, Rita;
Leroy, Brigitte;
Loget, Philippe;
Bonnière, Maryse;
Starck, Lena;
Tantau, Julia;
Gentilin, Barbara

Publication type:

Article

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022

By:

Martoni, Elena;
Urciuolo, Anna;
Sabatelli, Patrizia;
Fabris, Marina;
Bovolenta, Matteo;
Neri, Marcella;
Grumati, Paolo;
D'Amico, Adele;
Pane, Marika;
Mercuri, Eugenio;
Bertini, Enrico;
Merlini, Luciano;
Bonaldo, Paolo;
Ferlini, Alessandra;
Gualandi, Francesca

Publication type:

Article

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975

By:

Aiello, Chiara;
Terracciano, Alessandra;
Simonati, Alessandro;
Discepoli, Giancarlo;
Cannelli, Natalia;
Claps, Dianela;
Crow, Yanick J.;
Bianchi, Marzia;
Kitzmuller, Claudia;
Longo, Daniela;
Tavoni, Antonietta;
Franzoni, Emilio;
Tessa, Alessandra;
Veneselli, Edwige;
Boldrini, Renata;
Filocamo, Mirella;
Williams, Ruth E.;
Bertini, Enrico S.;
Biancheri, Roberta;
Carrozzo, Rosalba

Publication type:

Article

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924

By:

Brancati, Francesco;
Iannicelli, Miriam;
Travaglini, Lorena;
Mazzotta, Annalisa;
Bertini, Enrico;
Boltshauser, Eugen;
D'Arrigo, Stefano;
Emma, Francesco;
Fazzi, Elisa;
Gallizzi, Romina;
Gentile, Mattia;
Loncarevic, Damir;
Mejaski-Bosnjak, Vlatka;
Pantaleoni, Chiara;
Rigoli, Luciana;
Salpietro, Carmelo D.;
Signorini, Sabrina;
Stringini, Gilda Rita;
Verloes, Alain;
Zabloka, Dominika

Publication type:

Article

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

Published in:

Human Mutation, 2006, v. 27, n. 5, p. 453, doi. 10.1002/humu.20313

By:

van Reeuwijk, Jeroen;
Maugenre, Svetlana;
van den Elzen, Christa;
Verrips, Aad;
Bertini, Enrico;
Muntoni, Francesco;
Merlini, Luciano;
Scheffer, Hans;
Brunner, Han G.;
Guicheney, Pascale;
van Bokhoven, Hans

Publication type:

Article

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9407

By:

Montagna, Giorgia;
Teijido, Oscar;
Eymard-Pierre, Eleonore;
Muraki, Koutarou;
Cohen, Bruce;
Loizzo, Annalivia;
Grosso, Pietro;
Tedeschi, Gioacchino;
Palacín, Manuel;
Boespflug-Tanguy, Odile;
Bertini, Enrico;
Santorelli, Filippo M.;
Estévez, Raúl

Publication type:

Article

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V

By:

Giannotti, Aldo;
Tessa, Alessandra;
Patrono, Clarice;
Florio, Lucia De;
Velardo, Margherita;
Dionisi-Vici, Carlo;
Bertini, Enrico;
Santorelli, Filippo M.

Publication type:

Article

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 750, doi. 10.3390/jcm8050750

By:

Garau, Jessica;
Cavallera, Vanessa;
Valente, Marialuisa;
Tonduti, Davide;
Sproviero, Daisy;
Zucca, Susanna;
Battaglia, Domenica;
Battini, Roberta;
Bertini, Enrico;
Cappanera, Silvia;
Chiapparini, Luisa;
Crasà, Camilla;
Crichiutti, Giovanni;
Giustina, Elvio Dalla;
D'Arrigo, Stefano;
Giorgis, Valentina De;
Simone, Micaela De;
Galli, Jessica;
Piana, Roberta La;
Messana, Tullio

Publication type:

Article

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 819, doi. 10.1002/acn3.51980

By:

Nardecchia, Francesca;
Carrozzo, Rosalba;
Innocenti, Alice;
Torraco, Alessandra;
Zaccaria, Valerio;
Rizza, Teresa;
Pisani, Francesco;
Bertini, Enrico;
Leuzzi, Vincenzo

Publication type:

Article

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 1972, doi. 10.1002/acn3.51884

By:

Strauss, Kevin A.;
Carson, Vincent J.;
Bolettieri, Emilienne;
Everett, Mariah;
Bollinger, Ashton;
Bowser, Lauren E.;
Beiler, Keturah;
Young, Millie;
Edvardson, Simon;
Fraenkel, Nitay;
D'Amico, Adele;
Bertini, Enrico;
Lingappa, Lokesh;
Chowdhury, Devyani;
Lowes, Linda P.;
Iammarino, Megan;
Alfano, Lindsay N.;
Brigatti, Karlla W.

Publication type:

Article

Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046

By:

Bello, Luca;
D'Angelo, Grazia;
Villa, Matteo;
Fusto, Aurora;
Vianello, Sara;
Merlo, Beatrice;
Sabbatini, Daniele;
Barp, Andrea;
Gandossini, Sandra;
Magri, Francesca;
Comi, Giacomo P.;
Pedemonte, Marina;
Tacchetti, Paola;
Lanzillotta, Valentina;
Trucco, Federica;
D'Amico, Adele;
Bertini, Enrico;
Astrea, Guja;
Politano, Luisa;
Masson, Riccardo

Publication type:

Article

Genome sequencing in persistently unsolved white matter disorders.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957

By:

Helman, Guy;
Lajoie, Bryan R.;
Crawford, Joanna;
Takanohashi, Asako;
Walkiewicz, Marzena;
Dolzhenko, Egor;
Gross, Andrew M.;
Gainullin, Vladimir G.;
Bent, Stephen J.;
Jenkinson, Emma M.;
Ferdinandusse, Sacha;
Waterham, Hans R.;
Dorboz, Imen;
Bertini, Enrico;
Miyake, Noriko;
Wolf, Nicole I.;
Abbink, Truus E. M.;
Kirwin, Susan M.;
Tan, Christina M.;
Hobson, Grace M.

Publication type:

Article

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960

By:

Mendes, Marisa I.;
Green, Lydia M. C.;
Bertini, Enrico;
Tonduti, Davide;
Aiello, Chiara;
Smith, Desiree;
Salsano, Ettore;
Beerepoot, Shanice;
Hertecant, Jozef;
Spiczak, Sarah;
Livingston, John H.;
Emrick, Lisa;
Fraser, Jamie;
Russell, Laura;
Bernard, Genevieve;
Magri, Stefania;
Di Bella, Daniela;
Taroni, Franco;
Koenig, Mary K.;
Moroni, Isabella

Publication type:

Article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203

By:

Kevelam, Sietske H.;
Taube, Jennifer R.;
Spaendonk, Rosalina M. L.;
Bertini, Enrico;
Sperle, Karen;
Tarnopolsky, Mark;
Tonduti, Davide;
Valente, Enza Maria;
Travaglini, Lorena;
Sistermans, Erik A.;
Bernard, Geneviève;
Catsman ‐ Berrevoets, Coriene E.;
Karnebeek, Clara D. M.;
Østergaard, John R.;
Friederich, Richard L.;
Fawzi Elsaid, Mahmoud;
Schieving, Jolanda H.;
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Orcesi, Simona;
Steenweg, Marjan E.

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Misinformed by Visualization: What Do We Learn From Misinformative Visualizations?

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Computer Graphics Forum, 2022, v. 41, n. 3, p. 515, doi. 10.1111/cgf.14559

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Lo, Leo Yu‐Ho;
Gupta, Ayush;
Shigyo, Kento;
Wu, Aoyu;
Bertini, Enrico;
Qu, Huamin

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A Qualitative Study on the Exploration of Temporal Changes in Flow Maps with Animation and Small-Multiples.

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Computer Graphics Forum, 2012, v. 31, n. 3pt2, p. 1005, doi. 10.1111/j.1467-8659.2012.03093.x

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Boyandin, Ilya;
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Lalanne, Denis

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Flowstrates: An Approach for Visual Exploration of Temporal Origin-Destination Data.

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Computer Graphics Forum, 2011, v. 30, n. 3, p. 971, doi. 10.1111/j.1467-8659.2011.01946.x

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Boyandin, Ilya;
Bertini, Enrico;
Bak, Peter;
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Extended Excentric Labeling.

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Computer Graphics Forum, 2009, v. 28, n. 3, p. 927, doi. 10.1111/j.1467-8659.2009.01456.x

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Bertini, Enrico;
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Lalanne, Denis

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Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

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Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508

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Sartorelli, Jacopo;
Travaglini, Lorena;
Macchiaiolo, Marina;
Garone, Giacomo;
Gonfiantini, Michaela Veronika;
Vecchio, Davide;
Sinibaldi, Lorenzo;
Frascarelli, Flaminia;
Ceccatelli, Viola;
Petrillo, Sara;
Piemonte, Fiorella;
Piccolo, Gabriele;
Novelli, Antonio;
Longo, Daniela;
Pro, Stefano;
D'Amico, Adele;
Bertini, Enrico Silvio;
Nicita, Francesco

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Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management.

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Genes, 2022, v. 13, n. 3, p. 504, doi. 10.3390/genes13030504

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Cammarata-Scalisi, Francisco;
Callea, Michele;
Martinelli, Diego;
Willoughby, Colin Eric;
Tadich, Antonio Cárdenas;
Araya Castillo, Maykol;
Lacruz-Rengel, María Angelina;
Medina, Marco;
Grimaldi, Piercesare;
Bertini, Enrico;
Nevado, Julián

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Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.

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Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247

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Di Nottia, Michela;
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Torraco, Alessandra;
Rizza, Teresa;
Bertini, Enrico;
Carrozzo, Rosalba;
Lezza, Angela Maria Serena

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Data Visualization for Human Rights Advocacy.

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Journal of Human Rights Practice, 2016, v. 8, n. 2, p. 171, doi. 10.1093/jhuman/huw011

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Rall, Katharina;
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Pandey, Anshul Vikram;
Emerson, John;
Boy, Jeremy;
Nov, Oded;
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A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

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European Journal of Human Genetics, 2010, v. 18, n. 6, p. 636, doi. 10.1038/ejhg.2009.235

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Bisceglia, Luigi;
Zoccolella, Stefano;
Torraco, Alessandra;
Piemontese, Maria Rosaria;
Dell'Aglio, Rosa;
Amati, Angela;
De Bonis, Patrizia;
Artuso, Lucia;
Copetti, Massimiliano;
Santorelli, Filippo Maria;
Serlenga, Luigi;
Zelante, Leopoldo;
Bertini, Enrico;
Petruzzella, Vittoria

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SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

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European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116

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Tiziano, Francesco Danilo;
Pinto, Anna Maria;
Fiori, Stefania;
Lomastro, Rosa;
Messina, Sonia;
Bruno, Claudio;
Pini, Antonella;
Pane, Marika;
D'Amico, Adele;
Ghezzo, Alessandro;
Bertini, Enrico;
Mercuri, Eugenio;
Neri, Giovanni;
Brahe, Christina

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Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

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European Journal of Human Genetics, 2005, v. 13, n. 2, p. 256, doi. 10.1038/sj.ejhg.5201320

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Brahe, Christina;
Vitali, Tiziana;
Tiziano, Francesco D;
Angelozzi, Carla;
Pinto, Anna Maria;
Borgo, Federica;
Moscato, Umberto;
Bertini, Enrico;
Mercuri, Eugenio;
Neri, Giovanni

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Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

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European Journal of Human Genetics, 2004, v. 12, n. 7, p. 561, doi. 10.1038/sj.ejhg.5201189

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Fogli, Anne;
Schiffmann, Raphael;
Hugendubler, Lynne;
Combes, Patricia;
Bertini, Enrico;
Rodriguez, Diana;
Kimball, Scot R.;
Boespflug-Tanguy, Odile

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Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

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European Journal of Human Genetics, 2004, v. 12, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201108

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Andreassi, Catia;
Angelozzi, Carla;
Tiziano, Francesco D.;
Vitali, Tiziana;
De Vincenzi, Eleonora;
Boninsegna, Alma;
Villanova, Marcello;
Bertini, Enrico;
Pini, Antonella;
Neri, Giovanni;
Brahe, Christina

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