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Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
Author / Creator:Pareyson, Davide, MD ; Marchesi, Chiara, MD
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2009-07, Vol.8 (7), p.654-667
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Hereditary transthyretin amyloidosis overview
Author / Creator:Manganelli, Fiore ; Fabrizi, Gian Maria ; Luigetti, Marco ; Mandich, Paola ; Mazzeo, Anna ; Pareyson, Davide
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-12, Vol.43 (Suppl 2), p.595-604
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Hereditary neuropathy with liability to pressure palsies
Author / Creator:Attarian, Shahram ; Fatehi, Farzad ; Rajabally, Yusuf A. ; Pareyson, Davide
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-08, Vol.267 (8), p.2198-2206
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Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives
Author / Creator:Pisciotta, Chiara ; Saveri, Paola ; Pareyson, Davide
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2021-10, Vol.11 (11), p.1447
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Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature
Author / Creator:Benzoni, Chiara ; Moscatelli, Marco ; Fenu, Silvia ; Pareyson, Davide ; Salsano, Ettore
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-05, Vol.43 (5), p.3443-3447
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Peripheral neuropathy in mitochondrial disorders
Author / Creator:Pareyson, Davide, Dr ; Piscosquito, Giuseppe, MD ; Moroni, Isabella, MD ; Salsano, Ettore, MD ; Zeviani, Massimo, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2013-10, Vol.12 (10), p.1011-1024
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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
Author / Creator:Rossor, Alexander M ; Carr, Aisling S ; Devine, Helen ; Chandrashekar, Hoskote ; Pelayo-Negro, Ana Lara ; Pareyson, Davide ; Shy, Michael E ; Scherer, Steven S ; Reilly, Mary M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2017-10, Vol.88 (10), p.846-863
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Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial
Author / Creator:Nobile-Orazio, Eduardo, Prof ; Cocito, Dario, MD ; Jann, Stefano, MD ; Uncini, Antonino, Prof ; Beghi, Ettore, MD ; Messina, Paolo, MSc ; Antonini, Giovanni, MD ; Fazio, Raffaella, MD ; Gallia, Francesca, MD ; Schenone, Angelo, MD ; Francia, Ada, MD ; Pareyson, Davide, MD ; Santoro, Lucio, Prof ; Tamburin, Stefano, MD ; Macchia, Roberta, MSc ; Cavaletti, Guido, MD ; Giannini, Fabio, MD ; Sabatelli, Mario, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2012-06, Vol.11 (6), p.493-502
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The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
Author / Creator:Blasi, Lorenzo ; Sabbatini, Daniele ; Fortuna, Andrea ; Querin, Giorgia ; Martinelli, Ilaria ; Vianello, Sara ; Bertolin, Cinzia ; Pareyson, Davide ; Pennuto, Maria ; Pegoraro, Elena ; Bello, Luca ; Sorarù, Gianni
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-10, Vol.13 (1), p.17311-17311, Article 17311
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Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
Author / Creator:Guerrero-Valero, Marta ; Grandi, Federica ; Cipriani, Silvia ; Alberizzi, Valeria ; Di Guardo, Roberta ; Chicanne, Gaetan ; Sawade, Linda ; Bianchi, Francesca ; Del Carro, Ubaldo ; De Curtis, Ivan ; Pareyson, Davide ; Parman, Yesim ; Schenone, Angelo ; Haucke, Volker ; Payrastre, Bernard ; Bolino, Alessandra
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-03, Vol.118 (10), p.1-12
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Expanding the spectrum of genes responsible for hereditary motor neuropathies
Author / Creator:Previtali, Stefano C. ; Zhao, Edward ; Lazarevic, Dejan ; Pipitone, Giovanni Battista ; Fabrizi, Gian Maria ; Manganelli, Fiore ; Mazzeo, Anna ; Pareyson, Davide ; Schenone, Angelo ; Taroni, Franco ; Vita, Giuseppe ; Bellone, Emilia ; Ferrarini, Moreno ; Garibaldi, Matteo ; Magri, Stefania ; Padua, Luca ; Pennisi, Elena ; Pisciotta, Chiara ; Riva, Nilo ; Scaioli, Vidmer ; Scarlato, Marina ; Tozza, Stefano ; Geroldi, Alessandro ; Jordanova, Albena ; Ferrari, Maurizio ; Molineris, Ivan ; Reilly, Mary M. ; Comi, Giancarlo ; Carrera, Paola ; Devoto, Marcella ; Bolino, Alessandra
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2019-10, Vol.90 (10), p.1171-1179
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The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Author / Creator:Ambrosini, Anna ; Calabrese, Daniela ; Avato, Francesco Maria ; Catania, Felice ; Cavaletti, Guido ; Pera, Maria Carmela ; Toscano, Antonio ; Vita, Giuseppe ; Monaco, Lucia ; Pareyson, Davide
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.176-176, Article 176
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Asymptomatic adrenoleukodystrophy in elderly males
Author / Creator:Benzoni, Chiara ; Fenu, Silvia ; Pensato, Viviana ; Mauro, Elena ; Gellera, Cinzia ; Pareyson, Davide ; Salsano, Ettore
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-06, Vol.267 (6), p.1849-1851
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The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey
Author / Creator:Mancuso, Michelangelo ; Colitta, Alessandro ; Lavorato, Manuela ; Van den Bergh, Peter ; Kirschner, Janbernd ; Kornblum, Cornelia ; Maggi, Lorenzo ; Lamy, Francois ; Lochmüller, Hanns ; Nordstrøm, Marianne ; Malfatti, Edoardo ; Ferlini, Alessandra ; Pareyson, Davide ; Silani, Vincenzo ; Kleopa, Kleopas A ; de Visser, Marianne ; Atalaia, Antonio ; Evangelista, Teresinha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-05, Vol.20 (1), p.221-10, Article 221
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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial
Author / Creator:Pareyson, Davide, Dr ; Reilly, Mary M, Prof ; Schenone, Angelo, MD ; Fabrizi, Gian Maria, MD ; Cavallaro, Tiziana, MD ; Santoro, Lucio, Prof ; Vita, Giuseppe, Prof ; Quattrone, Aldo, Prof ; Padua, Luca, MD ; Gemignani, Franco, MD ; Visioli, Francesco, PhD ; Laurà, Matilde, MD ; Radice, Davide, MSc ; Calabrese, Daniela, MSc ; Hughes, Richard AC, Prof ; Solari, Alessandra, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2011-04, Vol.10 (4), p.320-328
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Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
Author / Creator:Querin, Giorgia ; Bertolin, Cinzia ; Da Re, Elisa ; Volpe, Marco ; Zara, Gabriella ; Pegoraro, Elena ; Caretta, Nicola ; Foresta, Carlo ; Silvano, Maria ; Corrado, Domenico ; Iafrate, Massimo ; Angelini, Lorenzo ; Sartori, Leonardo ; Pennuto, Maria ; Gaiani, Alessandra ; Bello, Luca ; Semplicini, Claudio ; Pareyson, Davide ; Silani, Vincenzo ; Ermani, Mario ; Ferlin, Alberto ; Sorarù, Gianni
Publisher:England: BMJ Publishing Group
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-08, Vol.87 (8), p.810-816
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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
Author / Creator:Cozzi, Marta ; Magri, Stefania ; Tedesco, Barbara ; Patelli, Guglielmo ; Ferrari, Veronica ; Casarotto, Elena ; Chierichetti, Marta ; Pramaggiore, Paola ; Cornaggia, Laura ; Piccolella, Margherita ; Galbiati, Mariarita ; Rusmini, Paola ; Crippa, Valeria ; Mandrioli, Jessica ; Pareyson, Davide ; Pisciotta, Chiara ; D’Arrigo, Stefano ; Ratti, Antonia ; Nanetti, Lorenzo ; Mariotti, Caterina ; Sarto, Elisa ; Pensato, Viviana ; Gellera, Cinzia ; Di Bella, Daniela ; Cristofani, Riccardo M. ; Taroni, Franco ; Poletti, Angelo
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-09, Vol.15 (9), p.692-16, Article 692
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Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation
Author / Creator:Romano, Roberta ; Del Fiore, Victoria Stefania ; Saveri, Paola ; Palamà, Ilaria Elena ; Pisciotta, Chiara ; Pareyson, Davide ; Bucci, Cecilia ; Guerra, Flora
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-01, Vol.11 (3), p.496
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Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
Author / Creator:Cavestro, Chiara ; Panteghini, Celeste ; Reale, Chiara ; Nasca, Alessia ; Fenu, Silvia ; Salsano, Ettore ; Chiapparini, Luisa ; Garavaglia, Barbara ; Pareyson, Davide ; Di Meo, Ivano ; Tiranti, Valeria
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2021-10, Vol.22 (4), p.347-351
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Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis
Author / Creator:Tosetti, Valentina ; Sassone, Jenny ; Ferri, Anna L. M. ; Taiana, Michela ; Bedini, Gloria ; Nava, Sara ; Brenna, Greta ; Di Resta, Chiara ; Pareyson, Davide ; Di Giulio, Anna Maria ; Carelli, Stephana ; Parati, Eugenio A. ; Gorio, Alfredo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-07, Vol.12 (7), p.e0180579
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Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

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Hereditary transthyretin amyloidosis overview

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Hereditary neuropathy with liability to pressure palsies

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Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

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Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature

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Peripheral neuropathy in mitochondrial disorders

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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

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Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial

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The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

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Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

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Expanding the spectrum of genes responsible for hereditary motor neuropathies

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The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

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Asymptomatic adrenoleukodystrophy in elderly males

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The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial

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Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

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Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation

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Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

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Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

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