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Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6513, doi. 10.3390/ijms22126513
By:
- Balla, Cristina;
- Conte, Elena;
- Selvatici, Rita;
- Marsano, Renè Massimiliano;
- Gerbino, Andrea;
- Farnè, Marianna;
- Blunck, Rikard;
- Vitali, Francesco;
- Armaroli, Annarita;
- Brieda, Alessandro;
- Liantonio, Antonella;
- De Luca, Annamaria;
- Ferlini, Alessandra;
- Rapezzi, Claudio;
- Bertini, Matteo;
- Gualandi, Francesca;
- Imbrici, Paola
Publication type:
Article
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up.
Published in:
Muscle & Nerve, 2012, v. 45, n. 6, p. 796, doi. 10.1002/mus.23272
By:
- Merlini, Luciano;
- Gennari, Monia;
- Malaspina, Elisabetta;
- Cecconi, Ilaria;
- Armaroli, Annarita;
- Gnudi, Saverio;
- Talim, Beril;
- Ferlini, Alessandra;
- Cicognani, Alessandro;
- Franzoni, Emilio
Publication type:
Article
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.
Published in:
JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908
By:
- Anthony, Karen;
- Arechavala-Gomeza, Virginia;
- Ricotti, Valeria;
- Torelli, Silvia;
- Feng, Lucy;
- Janghra, Narinder;
- Tasca, Giorgio;
- Guglieri, Michela;
- Barresi, Rita;
- Armaroli, Annarita;
- Ferlini, Alessandra;
- Bushby, Katherine;
- Straub, Volker;
- Ricci, Enzo;
- Sewry, Caroline;
- Morgan, Jennifer;
- Muntoni, Francesco
Publication type:
Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
Published in:
Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
By:
- Anthony, Karen;
- Cirak, Sebahattin;
- Torelli, Silvia;
- Tasca, Giorgio;
- Feng, Lucy;
- Arechavala-Gomeza, Virginia;
- Armaroli, Annarita;
- Guglieri, Michela;
- Straathof, Chiara S.;
- Verschuuren, Jan J.;
- Aartsma-Rus, Annemieke;
- Helderman-van den Enden, Paula;
- Bushby, Katherine;
- Straub, Volker;
- Sewry, Caroline;
- Ferlini, Alessandra;
- Ricci, Enzo;
- Morgan, Jennifer E.;
- Muntoni, Francesco
Publication type:
Article
Academic achievement and needs of school‐aged children born with selected congenital anomalies: A systematic review and meta‐analysis.
Published in:
Birth Defects Research, 2021, v. 113, n. 20, p. 1431, doi. 10.1002/bdr2.1961
By:
- Glinianaia, Svetlana V.;
- McLean, Ashleigh;
- Moffat, Malcolm;
- Shenfine, Rebekka;
- Armaroli, Annarita;
- Rankin, Judith
Publication type:
Article
Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.
Published in:
2020
By:
- Glinianaia, Svetlana V.;
- Morris, Joan K.;
- Best, Kate E.;
- Santoro, Michele;
- Coi, Alessio;
- Armaroli, Annarita;
- Rankin, Judith
Publication type:
journal article
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results.
Published in:
Oxidative Medicine & Cellular Longevity, 2011, v. 2011, p. 1, doi. 10.1155/2011/139194
By:
- Merlini, Luciano;
- Sabatelli, Patrizia;
- Armaroli, Annarita;
- Gnudi, Saverio;
- Angelin, Alessia;
- Grumati, Paolo;
- Michelini, Maria Elena;
- Franchella, Andrea;
- Gualandi, Francesca;
- Bertini, Enrico;
- Maraldi, Nadir Mario;
- Ferlini, Alessandra;
- Bonaldo, Paolo;
- Bernardi, Paolo
Publication type:
Article
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 970, doi. 10.1002/humu.23262
By:
- Nasca, Alessia;
- Scotton, Chiara;
- Zaharieva, Irina;
- Neri, Marcella;
- Selvatici, Rita;
- Magnusson, Olafur Thor;
- Gal, Aniko;
- Weaver, David;
- Rossi, Rachele;
- Armaroli, Annarita;
- Pane, Marika;
- Phadke, Rahul;
- Sarkozy, Anna;
- Muntoni, Francesco;
- Hughes, Imelda;
- Cecconi, Antonella;
- Hajnóczky, György;
- Donati, Alice;
- Mercuri, Eugenio;
- Zeviani, Massimo
Publication type:
Article
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
Published in:
Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.678974
By:
- Rossi, Rachele;
- Falzarano, Maria Sofia;
- Osman, Hana;
- Armaroli, Annarita;
- Scotton, Chiara;
- Mantuano, Paola;
- Boccanegra, Brigida;
- Cappellari, Ornella;
- Schwartz, Elena;
- Yuryev, Anton;
- Mercuri, Eugenio;
- Bertini, Enrico;
- D’Amico, Adele;
- Mora, Marina;
- Johansson, Camilla;
- Szigyarto, Cristina Al-Khalili;
- De Luca, Annamaria;
- Ferlini, Alessandra
Publication type:
Article
Huntington's disease-like presentation in Spinocerebellar ataxia type 12.
Published in:
2016
By:
- Groppo, Elisabetta;
- Armaroli, Annarita;
- Selvatici, Rita;
- Gualandi, Francesca;
- Sensi, Mariachiara
Publication type:
Case Study
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Published in:
BMC Medical Genetics, 2012, v. 13, n. 1, p. 73, doi. 10.1186/1471-2350-13-73
By:
- Brioschi, Simona;
- Gualandi, Francesca;
- Scotton, Chiara;
- Armaroli, Annarita;
- Bovolenta, Matteo;
- Falzarano, Maria S.;
- Sabatelli, Patrizia;
- Selvatici, Rita;
- D'Amico, Adele;
- Pane, Marika;
- Ricci, Giulia;
- Siciliano, Gabriele;
- Tedeschi, Silvana;
- Pini, Antonella;
- Vercelli, Liliana;
- De Grandis, Domenico;
- Mercuri, Eugenio;
- Bertini, Enrico;
- Merlini, Luciano;
- Mongini, Tiziana
Publication type:
Article

Found: 11