Canlyniadau Chwilio - Vincenzo Leuzzi
- Dangos 1 - 20 canlyniadau o 41
- Ewch i'r Dudalen Nesaf
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Inborn errors of creatine metabolism and epilepsy gan Vincenzo Leuzzi, Mario Mastrangelo, Roberta Battini, Giovanni Cioni
Cyhoeddwyd 2012Revisão -
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TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype gan Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino
Cyhoeddwyd 2012Artigo -
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Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice gan Luigia Rossi, Francesca Pierigè, Claudia Carducci, Claudia Gabucci, Tiziana Pascucci, Barbara Canonico, Sean Bell, Paul Fitzpatrick, Vincenzo Leuzzi, Mauro Magnani
Cyhoeddwyd 2014Artigo -
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A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging gan Laura Baroncelli, Angelo Molinaro, Francesco Cacciante, M. Alessandri, Debora Napoli, Elena Putignano, Jonida Tola, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Cyhoeddwyd 2016Artigo -
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Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels gan Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Cyhoeddwyd 2019Artigo -
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Living with phenylketonuria in adulthood: The PKU ATTITUDE study gan Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina
Cyhoeddwyd 2018Artigo -
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<i>Caenorhabditis elegans</i> provides an efficient drug screening platform for <i>GNAO1</i>-related disorders and highlights the potential role of caffeine in controlling dyskines... gan Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli, Jennifer Friedman, Gianfranco Bocchinfuso, Alberto Martire, Elia Di Schiavi, Vincenzo Leuzzi, Simone Martinelli
Cyhoeddwyd 2021Artigo -
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GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments gan María Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi
Cyhoeddwyd 2023Revisão -
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Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency gan Vincenzo Leuzzi, Ca Carducci, Carla Carducci, Simone Pozzessere, Alberto Burlina, R. Cerone, Daniela Concolino, Donati Ma, Laura M. Fiori, Concetta Meli, A Ponzone, Francesco Porta, Pietro Strisciuglio, I. Antonozzi, Nenad Blau
Cyhoeddwyd 2010Artigo -
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Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? gan Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, N. G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci
Cyhoeddwyd 2014Artigo -
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Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia gan Vincenzo Leuzzi, Roberto Micheli, Daniela D’Agnano, Anna Molinaro, Tullia Venturi, Alessandro Plebani, Annarosa Soresina, Mirella Marini, Pierino Ferremi Leali, Isabella Quinti, Maria Cristina Pietrogrande, Andrea Finocchi, Elisa Fazzi, Luciana Chessa, Mauro Magnani
Cyhoeddwyd 2015Artigo -
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Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees gan Valério Carelli, Alessandro Achilli, Maria Lucia Valentino, Chiara Rengo, Ornella Semino, Maria Pala, Anna Olivieri, Marina Mattiazzi, Francesco Pallotti, Franco Carrara, Massimo Zeviani, Vincenzo Leuzzi, Carla Carducci, Giorgio Valle, Barbara Simionati, Luana Mendieta, Solange Rios Salomão, Rubens Belfort, Alfredo A. Sadun, Antonio Torroni
Cyhoeddwyd 2006Artigo -
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Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial gan Luciana Chessa, Vincenzo Leuzzi, Alessandro Plebani, Annarosa Soresina, Roberto Micheli, Daniela D’Agnano, Tullia Venturi, Anna Molinaro, Elisa Fazzi, Mirella Marini, Pierino Ferremi Leali, Isabella Quinti, Filomena Monica Cavaliere, G. Girelli, Maria Cristina Pietrogrande, Andrea Finocchi, Stefano Tabolli, Damiano Abeni, Mauro Magnani
Cyhoeddwyd 2014Artigo -
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<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients gan Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint
Cyhoeddwyd 2020Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Medicine
Biology
Genetics
Internal medicine
Gene
Psychiatry
Pediatrics
Phenotype
Disease
Endocrinology
Amino acid
Neuroscience
Biochemistry
Phenylalanine
Epilepsy
Intellectual disability
Phenylketonurias
Chemistry
Pathology
Dystonia
Phenylalanine hydroxylase
Psychology
Ataxia
Dopamine
Genotype
Missense mutation
Movement disorders
Mutation
Parkinson's disease
Pharmacology