Search Results - Massimo Pandolfo

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  1. 1

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

    Published in Neurobiology of Disease (1997-01-01)
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  2. 2

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

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  3. 3

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

    Published in PLoS ONE (2007-10-01)
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  4. 4

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

    Published in PLoS ONE (2010-01-01)
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  5. 5

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

    Published in Neurobiology of Disease (2006-05-01)
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  6. 6

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

    Published in Disease Models & Mechanisms (2012-11-01)
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  7. 7

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

    Published in Orphanet Journal of Rare Diseases (2017-09-01)
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  8. 8

    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases by 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

    Published in Orphanet Journal of Rare Diseases (2022-11-01)
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  9. 9

    Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia by 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

    Published in Disease Models & Mechanisms (2013-05-01)
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  10. 10

    Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset by 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

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  11. 11

    Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. by Nellie Georgiou-Karistianis, Louise A Corben, Kathrin Reetz, Isaac M Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C França, William Gaetz, Ian H Harding, Karen S Harris, Steven Hersch, Richard Joules, James J Joers, Michelle L Krishnan, Michelle Lax, Eric F Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J R Rezende, Timothy P L Roberts, Jens T Rosenberg, Sandro Romanzetti, Jörg B Schulz, Traci Schilling, Adam J Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry

    Published in PLoS ONE (2025-01-01)
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  12. 12

    A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. by Nellie Georgiou-Karistianis, Louise A Corben, Kathrin Reetz, Isaac M Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C França, William Gaetz, Ian H Harding, Karen S Harris, Steven Hersch, Richard Joules, James J Joers, Michelle L Krishnan, Michelle Lax, Eric F Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J R Rezende, Timothy P L Roberts, Jens T Rosenberg, Sandro Romanzetti, Jörg B Schulz, Traci Schilling, Adam J Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry

    Published in PLoS ONE (2022-01-01)
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  13. 13

    A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol by Nellie Georgiou-Karistianis, Louise A. Corben, Kathrin Reetz, Isaac M. Adanyeguh, Manuela Corti, Dinesh K. Deelchand, Martin B. Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C. França, William Gaetz, Ian H. Harding, Karen S. Harris, Steven Hersch, Richard Joules, James J. Joers, Michelle L. Krishnan, Michelle Lax, Eric F. Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J. R. Rezende, Timothy P. L. Roberts, Jens T. Rosenberg, Sandro Romanzetti, Jörg B. Schulz, Traci Schilling, Adam J. Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry

    Published in PLoS ONE (2022-01-01)
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  14. 14

    Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. by Nellie Georgiou-Karistianis, Louise A Corben, Kathrin Reetz, Isaac M Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C França, William Gaetz, Ian H Harding, Karen S Harris, Steven Hersch, Richard Joules, James J Joers, Michelle L Krishnan, Michelle Lax, Eric F Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J R Rezende, Timothy P L Roberts, Jens T Rosenberg, Sandro Romanzetti, Jörg B Schulz, Traci Schilling, Adam J Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry

    Published in PLoS ONE (2025-01-01)
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    Article


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