Arama Sonuçları - Vincenzo Leuzzi

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  1. 1
    Inborn errors of creatine metabolism and epilepsy

    Inborn errors of creatine metabolism and epilepsy Yazar: Vincenzo Leuzzi, Mario Mastrangelo, Roberta Battini, Giovanni Cioni

    Baskı/Yayın Bilgisi 2012
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  2. 2
    Acute ischemic stroke in childhood: a comprehensive review

    Acute ischemic stroke in childhood: a comprehensive review Yazar: Mario Mastrangelo, Laura Giordo, Giacomina Ricciardi, Manuela De Michele, Danilo Toni, Vincenzo Leuzzi

    Baskı/Yayın Bilgisi 2021
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  3. 3
    The expanding spectrum of movement disorders in genetic epilepsies

    The expanding spectrum of movement disorders in genetic epilepsies Yazar: Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy McTague, Manju A. Kurian

    Baskı/Yayın Bilgisi 2019
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  4. 4
    Sleep Spindle Activity Is Correlated With Reading Abilities in Developmental Dyslexia

    Sleep Spindle Activity Is Correlated With Reading Abilities in Developmental Dyslexia Yazar: Oliviero Bruni, Raffaele Ferri, Luana Novelli, Monica Terribili, Miriam Troianiello, Elena Finotti, Vincenzo Leuzzi, Paolo Curatolo

    Baskı/Yayın Bilgisi 2009
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  5. 5
    TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

    TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Yazar: Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino

    Baskı/Yayın Bilgisi 2012
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  6. 6
    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration Yazar: Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Vincenzo Leuzzi

    Baskı/Yayın Bilgisi 2018
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  7. 7
    Eye movement disorders in genetic dystonia syndromes: a literature overview

    Eye movement disorders in genetic dystonia syndromes: a literature overview Yazar: Luca Pollini, Ilaria Pettenuzzo, Marina A.J. Tijssen, Lisette H. Koens, Tom J. de Koning, Vincenzo Leuzzi, Hendriekje Eggink

    Baskı/Yayın Bilgisi 2025
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  8. 8
    Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice

    Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice Yazar: Luigia Rossi, Francesca Pierigè, Claudia Carducci, Claudia Gabucci, Tiziana Pascucci, Barbara Canonico, Sean Bell, Paul Fitzpatrick, Vincenzo Leuzzi, Mauro Magnani

    Baskı/Yayın Bilgisi 2014
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  9. 9
    A novel mouse model of creatine transporter deficiency

    A novel mouse model of creatine transporter deficiency Yazar: Laura Baroncelli, M. Alessandri, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius T. Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso

    Baskı/Yayın Bilgisi 2014
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  10. 10
    A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging

    A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging Yazar: Laura Baroncelli, Angelo Molinaro, Francesco Cacciante, M. Alessandri, Debora Napoli, Elena Putignano, Jonida Tola, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso

    Baskı/Yayın Bilgisi 2016
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  11. 11
    Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

    Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels Yazar: Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi

    Baskı/Yayın Bilgisi 2019
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  12. 12
    Living with phenylketonuria in adulthood: The PKU ATTITUDE study

    Living with phenylketonuria in adulthood: The PKU ATTITUDE study Yazar: Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina

    Baskı/Yayın Bilgisi 2018
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  13. 13
    <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 dyskinesia

    <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... Yazar: 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

    Baskı/Yayın Bilgisi 2021
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  14. 14
    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments Yazar: 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

    Baskı/Yayın Bilgisi 2023
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  15. 15
    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency Yazar: 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

    Baskı/Yayın Bilgisi 2010
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  16. 16
    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?

    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? Yazar: 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

    Baskı/Yayın Bilgisi 2014
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  17. 17
    Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

    Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia Yazar: 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

    Baskı/Yayın Bilgisi 2015
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  18. 18
    Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

    Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees Yazar: 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

    Baskı/Yayın Bilgisi 2006
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  19. 19
    Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

    Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial Yazar: 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

    Baskı/Yayın Bilgisi 2014
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  20. 20
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Yazar: 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

    Baskı/Yayın Bilgisi 2020
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