BURLINA, ALBERTO

BURLINA, ALBERTO  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
ETHE1 mutations are specific to ethylmalonic encephalopathy 2006 Papaleo E.Christensen E.Burlina A.Zeviani M. + JOURNAL OF MEDICAL GENETICS - -
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu 2007 Burlina A.Zeviani M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: An illustrative case to discuss the concept of carbohydrate responsiveness 2011 DRIGO, PAOLATOLDO, IRENEBONIVER, CLEMENTINAGATTA, MICHELABURLINA, ALBERTOLAVERDA, ANNA MARIASARTORI, STEFANO + JOURNAL OF CHILD NEUROLOGY - -
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy 2012 Viscomi C.Burlina A.D'Amati G.Zeviani M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy 2012 Burlina A.Viscomi C.Zeviani M. + EMBO MOLECULAR MEDICINE - -
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 2013 Burlina A.Zeviani M.Ghezzi D. + HUMAN MUTATION - -
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 2015 LUNARDI, GIADACASARIN, ALBERTODOIMO, MARASPINAZZI, MARCOANGELINI, CORRADOBURLINA, ALBERTOCHIANDETTI, LINOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick type C disease 2016 BURLINA, ALESSANDROZANINOTTO, MARTINAPLEBANI, MARIOBURLINA, ALBERTO + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions 2018 Burlina, AlbertoZeviani, Massimo + EMBO MOLECULAR MEDICINE - -
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus 2018 Bisiacchi, PatriziaMento, GiovanniTarantino, VincenzaBurlina, Alberto COGNITIVE NEUROPSYCHOLOGY - -
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 2018 Toldo, IreneBONARDI, CLAUDIA MARIABettella, ElisaPolli, RobertaTalenti, GiacomoBurlina, AlbertoSartori, StefanoMurgia, Alessandra EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 2018 Burlina, AlbertoZeviani, MassimoLing, Han + ORPHANET JOURNAL OF RARE DISEASES - -
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation 2019 CARECCHIO, MIRYAMBurlina, AlbertoPAOLONI, FRANCESCOSartori, StefanoNosadini, Margheritad'Avella, DomenicoLandi, AndreaAntonini, Angelo + JOURNAL OF NEURAL TRANSMISSION - -
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature 2020 Salviati, LeonardoBurlina, Alberto + INTERNATIONAL JOURNAL OF NEONATAL SCREENING - -
Opinion, knowledge, and clinical experience with functional neurological disorders among Italian neurologists: results from an online survey 2021 Burlina A.Cagnin A.Corbetta M.Giometto B. + JOURNAL OF NEUROLOGY - -
Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear 2021 Pelloso M.Zuin S.Zuin J.Fogar P.Burlina A.Plebani M. + AMERICAN JOURNAL OF HEMATOLOGY - -