Rezultati pretrage - Alessandro Simonati

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  1. 1
    Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview

    Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview od Alessandro Simonati, Ruth Williams

    Izdano 2022
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  2. 2
    NCL diseases — clinical perspectives

    NCL diseases — clinical perspectives od Angela Schulz, Alfried Kohlschütter, Jonathan W. Mink, Alessandro Simonati, Ruth Williams

    Izdano 2013
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  3. 3
    Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

    Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy od Federica Morani, Stefano Doccini, Roberto Sirica, Marta Paterno, Francesco Pezzini, Ivana Ricca, Alessandro Simonati, Massimo Delledonne, Filippo M. Santorelli

    Izdano 2019
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  4. 4
    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A

    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A od Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani

    Izdano 2005
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  5. 5
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy od Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    Izdano 2013
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  6. 6
    Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

    Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study od Miriam Nickel, Alessandro Simonati, David Jacoby, Susanne Lezius, Dirk Kilian, Benjamin Van de Graaf, Odelya E. Pagovich, Barry E. Kosofsky, Kaleb Yohay, Matthew Downs, Peter Slasor, Temitayo Ajayi, Ronald G. Crystal, Alfried Kohlschütter, Dolan Sondhi, Angela Schulz

    Izdano 2018
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  7. 7
    CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

    CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis od Alberto di Ronza, Lakshya Bajaj, Jai Prakash Sharma, Deepthi Sanagasetti, Parisa Lotfi, Carolyn J. Adamski, John R. Collette, Michela Palmieri, Abdallah Amawi, Lauren Popp, Kevin T. Chang, Maria Chiara Meschini, Hon-Chiu Eastwood Leung, Laura Segatori, Alessandro Simonati, Richard N. Sifers, Filippo M. Santorelli, Marco Sardiello

    Izdano 2018
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  8. 8
    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> od Allison Gregory, S. K. Westaway, Ida E. Holm, Paul T. Kotzbauer, P. Hogarth, Scott Sonek, Jason Coryell, Thuy Minh Nguyen, Nardo Nardocci, Giovanna Zorzi, Diana Rodriguez, Isabelle Desguerre, Enrico Bertini, Alessandro Simonati, Barbara Levinson, Cristina Dias, Clara Barbot, Inês Carrilho, Mariline Santos, Ibrahim Malik, Jane Gitschier, S. J. Hayflick

    Izdano 2008
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  9. 9
    Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

    Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients od Sara Mole, Angela Schulz, Ëben Badoe, Samuel F. Berkovic, Emily de los Reyes, Simon Dulz, Paul Gissen, Norberto Gilbert, Charles Marquez Lourenço, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Lobbecke, Raymond Wang, Ruth Williams

    Izdano 2020
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  10. 10
    Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

    Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients od Sara Mole, Angela Schulz, Ëben Badoe, Samuel F. Berkovic, Emily de los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles Marques Lourenço, Heather Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina von Löbbecke, Raymond Wang, Ruth Williams

    Izdano 2021
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  11. 11
    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron od Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick

    Izdano 2006
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  12. 12
    GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

    GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings od Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón, Elena Procopio, Serena Catarzi, Lorenzo Ferri, Carmen Guido, Paola Martelli, Rossella Parini, Daniela Antuzzi, Roberta Battini, Michelina Sibilio, Alessandro Simonati, Elena Fontana, Alessandro Salviati, Gülçin Akıncı, Cristina Cereda, Carlo Dionisi‐Vici, Federica Deodato, Adele D’Amico, Alessandra d’Azzo, Enrico Bertini, Mirella Filocamo, Maurizio Scarpa, Maja Di Rocco, Cynthia J. Tifft, F. Ciani, Serena Gasperini, Elisabetta Pasquini, Renzo Guerrini, Maria Alice Donati, Amelia Morrone

    Izdano 2011
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  13. 13
    Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

    Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) od Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen Oliver, Stanislav Kmoch, Glenn Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Susan L. Cotman, Melanie Bahlo, Katherine R. Smith, Maxime Cadieux‐Dion, Patrick Cossette, Ivana Jedličková, Anna Přistoupilová, Sara Mole, Umberto Aguglia, Danielle M Andrade, Francesca Bisulli, Sylvia Boesch, Laura Canafoglia, Hans‐Henrik M. Dahl, Rainer Ehling, Silvana Franceschetti, Antonio Gambardella, Michael Gonzales, Renate Kalnins, Anthony E. Lang, Eliza Lewandowska, Laura Licchetta, Tiago Mestre, Michela Morbin, Chantal F. Morel, Klary E. Niezen‐Koning, Filippo M. Santorelli, Alessandro Simonati, Paolo Tinuper

    Izdano 2016
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  14. 14
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria od Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Izdano 2021
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