BURLINA, ALBERTO
BURLINA, ALBERTO
Dipartimento di Salute della Donna e del Bambino - SDB
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review
2018 Toldo, Irene; Bonardi, CLAUDIA MARIA; Bettella, Elisa; Polli, Roberta; Talenti, Giacomo; Burlina, Alberto; Sartori, Stefano; Murgia, Alessandra
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
2018 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; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; De Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joél; Mayr, Johannes A.; Dai, Lifang; De Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; Mcfarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Han, Ling; Fang, Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
2012 Di Meo, I.; Auricchio, A.; Lamperti, C.; Burlina, A.; Viscomi, C.; Zeviani, M.
ETHE1 mutations are specific to ethylmalonic encephalopathy
2006 Tiranti, V.; Briem, E.; Lamantea, E.; Mineri, R.; Papaleo, E.; De Gioia, L.; Forlani, F.; Rinaldo, P.; Dickson, P.; Abu-Libdeh, B.; Cindro-Heberle, L.; Owaidha, M.; Jack, R. M.; Christensen, E.; Burlina, A.; Zeviani, M.
High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick type C disease
2016 Polo, Giulia; Burlina, Alessandro; Furlan, Francesca; Kolamunnage, Thilini; Cananzi, Mara; Giordano, Laura; Zaninotto, Martina; Plebani, Mario; Burlina, Alberto
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
2022 Gragnaniello, V.; Deodato, F.; Gasperini, S.; Donati, M. A.; Canessa, C.; Fecarotta, S.; Pascarella, A.; Spadaro, G.; Concolino, D.; Burlina, A.; Parenti, G.; Strisciuglio, P.; Fiumara, A.; Casa, R. D.
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
2007 Valente, L.; Tiranti, V.; Marsano, R. M.; Malfatti, E.; Fernandez-Vizarra, E.; Donnini, C.; Mereghetti, P.; De Gioia, L.; Burlina, A.; Castellan, C.; Comi, G. P.; Savasta, S.; Ferrero, I.; Zeviani, M.
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
2007 Valente, Lucia; Tiranti, Valeria; Marsano, Rene Massimiliano; Malfatti, Edoardo; Fernandez-Vizarra, Erika; Donnini, Claudia; Mereghetti, Paolo; De Gioia, Luca; Burlina, Alberto; Castellan, Claudio; Comi, Giacomo P; Savasta, Salvatore; Ferrero, Iliana; Zeviani, Massimo
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation
2019 Benato, Alberto; Carecchio, Miryam; Burlina, Alberto; Paoloni, Francesco; Sartori, Stefano; Nosadini, Margherita; D'Avella, Domenico; Landi, Andrea; Antonini, Angelo
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
2012 Giordano, C.; Viscomi, C.; Orlandi, M.; Papoff, P.; Spalice, A.; Burlina, A.; Di Meo, I.; Tiranti, V.; Leuzzi, V.; D'Amati, G.; Zeviani, M.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
2013 Baruffini, E.; Dallabona, C.; Invernizzi, F.; Yarham, J. W.; Melchionda, L.; Blakely, E. L.; Lamantea, E.; Donnini, C.; Santra, S.; Vijayaraghavan, S.; Roper, H. P.; Burlina, A.; Kopajtich, R.; Walther, A.; Strom, T. M.; Haack, T. B.; Prokisch, H.; Taylor, R. W.; Ferrero, I.; Zeviani, M.; Ghezzi, D.
Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear
2021 Pelloso, M.; Zuin, S.; Tosato, F.; Zuin, J.; Fogar, P.; Piva, E.; Burlina, A.; Plebani, M.
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions
2018 Reyes, Aurelio; Melchionda, Laura; Burlina, Alberto; Robinson, Alan J; Ghezzi, Daniele; Zeviani, Massimo
Opinion, knowledge, and clinical experience with functional neurological disorders among Italian neurologists: results from an online survey
2021 Tinazzi, M.; Fiorio, M.; Berardelli, A.; Bonetti, B.; Bonifati, D. M.; Burlina, A.; Cagnin, A.; Calabria, F.; Corbetta, M.; Cortelli, P.; Giometto, B.; Guidoni, S. V.; Lopiano, L.; Mancardi, G.; Marchioretto, F.; Pellegrini, M.; Teatini, F.; Tedeschi, G.; Tesolin, L.; Turinese, E.; Zappia, M.; Marotta, A.
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: An illustrative case to discuss the concept of carbohydrate responsiveness
2011 Parolin, Giulia; Drigo, Paola; Toldo, Irene; Boniver, Clementina; Gatta, Michela; Burlina, Alberto; Laverda, ANNA MARIA; Sartori, Stefano
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
2020 Gragnaniello, Vincenza; Gueraldi, Daniela; Rubert, Laura; Manzoni, Francesca; Cazzorla, Chiara; Giuliani, Antonella; Polo, Giulia; Salviati, Leonardo; Burlina, Alberto
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus
2018 Bisiacchi, Patrizia; Mento, Giovanni; Tarantino, Vincenza; Burlina, Alberto