Search Results - Pareyson, Davide

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  1. 1
    Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

    Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives by Pisciotta, Chiara, Saveri, Paola, Pareyson, Davide

    Published 2021
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  2. 2
    Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study

    Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study by Ferrarin, Maurizio, Lencioni, Tiziana, Rabuffetti, Marco, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide

    Published 2013
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  3. 3
    Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease

    Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease by Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter

    Published 2015
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  4. 4
    Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children

    Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children by Pagliano, Emanuela, Moroni, Isabella, Baranello, Giovanni, Magro, Anita, Marchi, Alessia, Bulgheroni, Sara, Ferrarin, Maurizio, Pareyson, Davide

    Published 2011
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  5. 5
    A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

    A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy by Muglia, Maria, Vazza, Giovanni, Patitucci, Alessandra, Milani, Micaela, Pareyson, Davide, Taroni, Franco, Quattrone, Aldo, Mostacciuolo, Maria Luisa

    Published 2009
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  6. 6
    Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain

    Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain by Laurà, Matilde, Milani, Micaela, Morbin, Michela, Moggio, Maurizio, Ripolone, Michela, Jann, Stefano, Scaioli, Vidmer, Taroni, Franco, Pareyson, Davide

    Published 2007
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  7. 7
    Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7(K126R) Mutation

    Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7(K126R) Mutation by Romano, Roberta, Del Fiore, Victoria Stefania, Saveri, Paola, Palamà, Ilaria Elena, Pisciotta, Chiara, Pareyson, Davide, Bucci, Cecilia, Guerra, Flora

    Published 2022
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  8. 8
    Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

    Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease by Murphy, Sine´ad M., Herrmann, David N., McDermott, Michael P., Scherer, Steven S., Shy, Michael E., Reilly, Mary M., Pareyson, Davide

    Published 2011
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  9. 9
    An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease

    An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease by Kinter, Jochen, Lazzati, Thomas, Schmid, Daniela, Zeis, Thomas, Erne, Beat, Lützelschwab, Roland, Steck, Andreas J., Pareyson, Davide, Peles, Elior, Schaeren-Wiemers, Nicole

    Published 2012
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  10. 10
    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders by Ardissone, Anna, Piscosquito, Giuseppe, Legati, Andrea, Langella, Tiziana, Lamantea, Eleonora, Garavaglia, Barbara, Salsano, Ettore, Farina, Laura, Moroni, Isabella, Pareyson, Davide, Ghezzi, Daniele

    Published 2015
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  11. 11
    Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

    Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4) by Piscosquito, Giuseppe, Saveri, Paola, Magri, Stefania, Ciano, Claudia, Gandioli, Claudia, Morbin, Michela, Bella, Daniela D., Moroni, Isabella, Taroni F, Franco, Pareyson, Davide

    Published 2016
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  12. 12
    The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

    The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage by Ambrosini, Anna, Calabrese, Daniela, Avato, Francesco Maria, Catania, Felice, Cavaletti, Guido, Pera, Maria Carmela, Toscano, Antonio, Vita, Giuseppe, Monaco, Lucia, Pareyson, Davide

    Published 2018
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  13. 13
    MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease

    MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease by Farina, Laura, Bizzi, Alberto, Finocchiaro, Gaetano, Pareyson, Davide, Sghirlanzoni, Angelo, Bertagnolio, Barbara, and Savoiardo, Mario, Naidu, and SakkuBai, Singhal, Bhim S., Wenger, David A.

    Published 2000
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  14. 14
    A New Mutation in Gjc2 Associated with Subclinical Leukodystrophy

    A New Mutation in Gjc2 Associated with Subclinical Leukodystrophy by Abrams, Charles K., Scherer, Steven S., Flores-Obando, Rafael, Freidin, Mona M, Wong, Sarah, Lamantea, Eleonora, Farina, Laura, Scaioli, Vidmer, Pareyson, Davide, Salsano, Ettore

    Published 2014
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  15. 15
    The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Tooth disease

    The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Toot... by Lencioni, Tiziana, Piscosquito, Giuseppe, Rabuffetti, Marco, Bovi, Gabriele, Calabrese, Daniela, Aiello, Alessia, Di Sipio, Enrica, Padua, Luca, Diverio, Manuela, Pareyson, Davide, Ferrarin, Maurizio

    Published 2015
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  16. 16
    Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

    Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation by Cavestro, Chiara, Panteghini, Celeste, Reale, Chiara, Nasca, Alessia, Fenu, Silvia, Salsano, Ettore, Chiapparini, Luisa, Garavaglia, Barbara, Pareyson, Davide, Di Meo, Ivano, Tiranti, Valeria

    Published 2021
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  17. 17
    Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

    Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations by Orthmann-Murphy, Jennifer L., Salsano, Ettore, Abrams, Charles K., Bizzi, Alberto, Uziel, Graziella, Freidin, Mona M., Lamantea, Eleonora, Zeviani, Massimo, Scherer, Steven S., Pareyson, Davide

    Published 2009
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  18. 18
    SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

    SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein by Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina

    Published 2013
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  19. 19
    Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

    Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms by Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella

    Published 2012
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  20. 20
    Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

    Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts by Polvi, Anne, Linnankivi, Tarja, Kivelä, Tero, Herva, Riitta, Keating, James P., Mäkitie, Outi, Pareyson, Davide, Vainionpää, Leena, Lahtinen, Jenni, Hovatta, Iiris, Pihko, Helena, Lehesjoki, Anna-Elina

    Published 2012
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