Hasil Pencarian - Massimo Pandolfo

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  1. 1
    Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation

    Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation oleh Virginie Imbault, Chiara Dionisi, Gilles Naeije, David Communi, Massimo Pandolfo, Massimo Pandolfo

    Diterbitkan 2022-07-01
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  2. 2
    Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo

    Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo oleh Sarn Jiralerspong, Yanling Liu, Laura Montermini, Stefano Stifani, Massimo Pandolfo

    Diterbitkan 1997-01-01
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  3. 3
    Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia

    Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia oleh Gilles Naeije, Myriam Rai, Nick Allaerts, Martin Sjogard, Xavier De Tiège, Massimo Pandolfo

    Diterbitkan 2020-06-01
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  4. 4
    PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.

    PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia. oleh Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo

    Diterbitkan 2010-04-01
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  5. 5
    Age of onset determines intrinsic functional brain architecture in Friedreich ataxia

    Age of onset determines intrinsic functional brain architecture in Friedreich ataxia oleh Gilles Naeije, Vincent Wens, Nicolas Coquelet, Martin Sjøgård, Serge Goldman, Massimo Pandolfo, Xavier P. De Tiège

    Diterbitkan 2020-01-01
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  6. 6
    Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises

    Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises oleh Bruno Bonnechère, Bart Jansen, Inès Haack, Lubos Omelina, Véronique Feipel, Serge Van Sint Jan, Massimo Pandolfo

    Diterbitkan 2018-10-01
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  7. 7
    Test–retest reliability of the Friedreich’s ataxia rating scale

    Test–retest reliability of the Friedreich’s ataxia rating scale oleh Christian Rummey, Theresa A. Zesiewicz, Santiago Perez‐Lloret, Jennifer M. Farmer, Massimo Pandolfo, David R. Lynch

    Diterbitkan 2020-09-01
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  8. 8
    Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

    Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neuro... oleh Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard, Holm Graessner

    Diterbitkan 2021-03-01
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  9. 9
    Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke.

    Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke. oleh Shérine Abboud, Pekka J Karhunen, Dieter Lütjohann, Sirkka Goebeler, Teemu Luoto, Silvia Friedrichs, Terho Lehtimaki, Massimo Pandolfo, Reijo Laaksonen

    Diterbitkan 2007-10-01
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  10. 10
    Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.

    Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. oleh Myriam Rai, Elisabetta Soragni, C James Chou, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Massimo Pandolfo

    Diterbitkan 2010-01-01
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  11. 11
    HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

    HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. oleh Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo

    Diterbitkan 2008-01-01
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  12. 12
    Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration

    Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration oleh Giovanni Coppola, Sang-Hyun Choi, Manuela M. Santos, Carlos J. Miranda, Dmitri Tentler, Eric M. Wexler, Massimo Pandolfo, Daniel H. Geschwind

    Diterbitkan 2006-05-01
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  13. 13
    Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

    Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia oleh Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio

    Diterbitkan 2012-11-01
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  14. 14
    Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

    Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia oleh Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti

    Diterbitkan 2017-09-01
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  15. 15
    DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

    DNA methylation in Friedreich ataxia silences expression of frataxin isoform E oleh Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani

    Diterbitkan 2022-03-01
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  16. 16
    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases oleh Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group

    Diterbitkan 2022-11-01
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  17. 17
    Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

    Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia oleh Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P. Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer, Myriam Rai, Marius Teletin, Nadia Messaddeq, Serge N. Schiffmann, Stéphane Viville, Christopher E. Pearson, Massimo Pandolfo, Hélène Puccio

    Diterbitkan 2013-05-01
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  18. 18
    Onset features and time to diagnosis in Friedreich’s Ataxia

    Onset features and time to diagnosis in Friedreich’s Ataxia oleh Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)

    Diterbitkan 2020-08-01
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  19. 19
    Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)

    Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) oleh Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group

    Diterbitkan 2019-10-01
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  20. 20
    Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset

    Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset oleh Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group

    Diterbitkan 2023-11-01
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