نتائج البحث - "Paola Venco"

المساهمون: Panteghini, Celeste, Zorzi, Giovanna, Venco, Paola, Dusi, Sabrina, Reale, Chiara, Brunetti, Dario, Chiapparini, Luisa, Zibordi, Federica, Siegel, Brigitte, Garavaglia, Barbara, Simonati, Alessandro, Bertini, Enrico, Nardocci, Nardo, Tiranti, Valeria

المصدر: Seminars in Pediatric Neurology. 19:75-81

مصطلحات موضوعية: Adult, Male, Iron metabolism disorder, medicine.medical_specialty, Italian, Adolescent, Genotype, Neurodegeneration with brain iron accumulation, DNA Mutational Analysis, NBIA, C19orf12 mutation, FA2H Mutation, patients, Neuroaxonal Dystrophies, Biology, Bioinformatics, Mixed Function Oxygenases, DNA Mutational Analysi, Cohort Studies, Mitochondrial Proteins, Young Adult, Microscopy, Electron, Transmission, Molecular genetics, Basal ganglia, medicine, Iron Metabolism Disorder, Mitochondrial Protein, Humans, Neuroaxonal Dystrophie, Genetic Predisposition to Disease, Gene, Mixed Function Oxygenase, Skin, Early onset, Genetics, PANK2, Iron Metabolism Disorders, Italy, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Cohort Studie, Human

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d1a23df0792471c652ad554fd5580b
https://doi.org/10.1016/j.spen.2012.03.006

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4

Conference

Monitoraggio biologico dell’esposizione ad I.P.A. in lavoratori addetti alla produzione di semilavorati per pneumatici

المؤلفون: BERGAMASCHI, Enrico, Giuseppina FOLESANI, Roberta ANDREOLI, Paola MANINI, Stefano SCHENATO, Paola VENCO, Stefania CAVAZZINI, Innocente FRANCHINI, Antonio MUTTI

المساهمون: Enrico BERGAMASCHI, Giuseppina FOLESANI, Roberta ANDREOLI, Paola MANINI, Stefano SCHENATO, Paola VENCO, Stefania CAVAZZINI, Innocente FRANCHINI, Antonio MUTTI

Relation: ispartofbook:Atti 21° Congresso Nazionale dell’Associazione Italiana degli Igienisti Industriali. Como; 21 ° Congresso Nazionale dell’Associazione Italiana degli Igienisti Industriali; firstpage:367; lastpage:370; numberofpages:4; http://hdl.handle.net/2318/1623258

الاتاحة: http://hdl.handle.net/2318/1623258

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5

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

المؤلفون: Sonia Levi, Stefano Taverna, Maurizio Ferrari, Vania Broccoli, Valeria Tiranti, Serena Giannelli, Paolo Santambrogio, Paola Venco, Barbara Garavaglia, Daniel Orellana, Latefa Yekhlef, Anna Cozzi, Sabrina Dusi, Alicia Rubio, Cinzia Cancellieri, Pietro G. Mazzara

المساهمون: Orellana, Daniel I, Santambrogio, Paolo, Rubio, Alicia, Yekhlef, Latefa, Cancellieri, Cinzia, Dusi, Sabrina, Giannelli, Serena G, Venco, Paola, Mazzara, Pietro G, Cozzi, Anna, Ferrari, Maurizio, Garavaglia, Barbara, Taverna, Stefano, Tiranti, Valeria, Broccoli, Vania, Levi, Sonia, Levi, SONIA MARIA ROSA

المصدر: EMBO Molecular Medicine

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d170f4b4e42392bdba7c942a24f6765
http://hdl.handle.net/11585/581267

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6

Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy

المساهمون: Research Programme for Molecular Neurology, Research Programs Unit, Clinicum, Children's Hospital, Lastenneurologian yksikkö, Anu Wartiovaara / Principal Investigator, HUS Children and Adolescents

المصدر: Am. J. Hum. Genet. 99, 735-743 (2016)
The American journal of human genetics 99(3), 735-743 (2016). doi:10.1016/j.ajhg.2016.06.026

مصطلحات موضوعية: Male, 0301 basic medicine, pathology [Autophagosomes], complications [Dystonia], genetics [Cognition Disorders], pathology [Mitochondria], 3124 Neurology and psychiatry, genetics [Dysarthria], analysis [RNA, Messenger], 0302 clinical medicine, complications [Supranuclear Palsy, Progressive], 3123 Gynaecology and paediatrics, Sequestosome-1 Protein, complications [Movement Disorders], Genetics(clinical), SQSTM1 protein, human, Age of Onset, Amyotrophic lateral sclerosis, Cognitive decline, Child, Gait, Genetics (clinical), Dystonia, education.field_of_study, Movement Disorders, genetics [Supranuclear Palsy, Progressive], Neurodegeneration, Neurodegenerative Diseases, genetics [Ataxia], genetics [Movement Disorders], metabolism [Autophagosomes], Mitochondria, Pedigree, Phenotype, Female, genetics [Sequestosome-1 Protein], Supranuclear Palsy, Progressive, medicine.symptom, metabolism [Fibroblasts], Frontotemporal dementia, Adult, Ataxia, genetics [Autophagy], Adolescent, education, deficiency [Sequestosome-1 Protein], Young Adult, 03 medical and health sciences, Sequestosome 1, ddc:570, Report, Autophagy, Genetics, medicine, Humans, RNA, Messenger, complications [Dysarthria], business.industry, physiopathology [Neurodegenerative Diseases], Dysarthria, Autophagosomes, 3112 Neurosciences, Fibroblasts, metabolism [Mitochondria], medicine.disease, genetics [Dystonia], 030104 developmental biology, genetics [Neurodegenerative Diseases], complications [Neurodegenerative Diseases], genetics [Gait], 3111 Biomedicine, Cognition Disorders, business, Neuroscience, 030217 neurology & neurosurgery, complications [Ataxia]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aef6c5e6910731de6a7ab3a80902479
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49305

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7

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺

المؤلفون: Paola, Venco, Massimo, Bonora, Carlotta, Giorgi, Elena, Papaleo, Arcangela, Iuso, Holger, Prokisch, Paolo, Pinton, Valeria, Tiranti

المصدر: Frontiers in Genetics

مصطلحات موضوعية: mitochondria, neurodegeneration with brain iron accumulation, molecular modeling, endoplasmic reticulum-mitochondria associated membranes (ER-MAM), oxidative stress, simulation, Pediatrics, Original Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8063c9c4c87d5d0708d5bb806907d51e
https://pubmed.ncbi.nlm.nih.gov/26136767

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Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes

المؤلفون: Lorella Valletta, Sabrina Dusi, Paola Venco, Valeria Tiranti

المساهمون: Venco, Paola, Dusi, Sabrina, Valletta, Lorella, Tiranti, Valeria

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f45d9eee7abc7a3702f1515efe68427
http://hdl.handle.net/11585/581780

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9

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

المؤلفون: Emilio Ciusani, Amy Deik, Laura Strittmatter, Barbara Garavaglia, Sabrina Dusi, Giovanna Zorzi, Claudio Caccia, Valeria Tiranti, Marco Rimoldi, Vamsi K. Mootha, Enrico Bertini, Amanda Souza, Clary B. Clish, Paola Venco, Federica Zibordi, Nardo Nardocci, Valerio Leoni

المساهمون: Leoni, V, Strittmatter, L, Zorzi, G, Zibordi, F, Dusi, S, Garavaglia, B, Venco, P, Caccia, C, Souza, A, Deik, A, Clish, C, Rimoldi, M, Ciusani, E, Bertini, E, Nardocci N, Mootha, V, Tiranti, V, Leoni, Valerio, Strittmatter, Laura, Zorzi, Giovanna, Zibordi, Federica, Dusi, Sabrina, Garavaglia, Barbara, Venco, Paola, Caccia, Claudio, Souza, Amanda L., Deik, Amy, Clish, Clary B., Rimoldi, Marco, Ciusani, Emilio, Bertini, Enrico, Nardocci, Nardo, Mootha, Vamsi K., Tiranti, Valeria

مصطلحات موضوعية: Male, Sphingomyelin, Lipid Metabolism Disorder, Endocrinology, Diabetes and Metabolism, Lipid Metabolism Disorders, Mitochondrion, Biochemistry, Pantothenic Acid, Cohort Studies, chemistry.chemical_compound, Endocrinology, Iron Metabolism Disorder, Neuroaxonal Dystrophie, Child, Genetics, Bile Acids and Salt, Sphingomyelins, Mitochondria, Phosphotransferases (Alcohol Group Acceptor), Cholesterol, Codon, Nonsense, Child, Preschool, Metabolome, Female, Human, Adult, medicine.medical_specialty, Adolescent, Coenzyme A, PKAN, Neuroaxonal Dystrophies, Metabolomic, Biology, Pantothenate kinase-associated neurodegeneration, Article, Bile Acids and Salts, Young Adult, Genetic, Internal medicine, Bile acid conjugation, medicine, Humans, Lactic Acid, Molecular Biology, Pantothenate Kinase-Associated Neurodegeneration, Lipid metabolism, PANK2, medicine.disease, Lipid Metabolism, Iron Metabolism Disorders, chemistry, Inborn error of metabolism, metabolomics, mass spectrometry, oxysterols, cholesterol, organic acid, Cohort Studie