Massimo Pandolfo
1986–2025 年に発表
- 105
- 論文数
- 18,759
- 被引用数
- 75
- h 指数
- 102
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Neuroscience36.4%
- Medicine31.3%
- Biochemistry, Genetics and Molecular Biology25.6%
- Energy1.7%
- Nursing1.4%
- Pharmacology, Toxicology and Pharmaceutics1.3%
- その他2.3%
トピック
- Genetic Neurodegenerative Diseases12.5%
- Mitochondrial Function and Pathology9.3%
- Amyotrophic Lateral Sclerosis Research3%
- Genetics and Neurodevelopmental Disorders2.6%
- DNA Repair Mechanisms2.4%
- Neurological disorders and treatments1.9%
- その他68.3%
共著者
- Alexandra Dürr25
- Caterina Mariotti20
- Lüdger Schöls20
- Jörg B. Schulz18
- Paola Giunti17
- Sylvia Boesch17
- Thomas Klockgether14
- Myriam Rai13
- Alexis Brice11
- Dagmar Timmann11
- Kathrin Reetz11
- Laura Montermini10
- Perrine Charles10
- Peter Bauer10
- Alessandro Filla9
- Chantal Depondt9
- Bart P.C. van de Warrenburg8
- Maria Rakowicz8
- Béla Melegh7
- David R. Lynch7
- Heike Jacobi7
- Imis Dogan7
- Lorenzo Nanetti7
- Tanja Schmitz‐Hübsch7
全論文
- Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
著者: Victoria Campuzano, Laura Montermini, María Dolores Moltó, Luigi Pianese, Mireille Cossée, Francesca Cavalcanti, Eugènia Monrós, François Rodius, Franck Duclos, Antonella Monticelli, Federico Zara, Joaquı́n Cañizares, Hana Koutníková, Sanjay I. Bidichandani, Cinzia Gellera, Alexis Brice, P Trouillas, Giuseppe De Michele, Alessandro Filla, R. de Frutos, Francesc Palau, Pragna I. Patel, Stefano Di Donato, Jean‐Louis Mandel, Sergio Cocozza, Michel Koenig, Massimo Pandolfo - Science 1996 被引用: 2,801
- Effect of natalizumab on disease progression in secondary progressive multiple sclerosis (ASCEND): a phase 3, randomised, double-blind, placebo-controlled trial with an open-label extension
著者: Raju Kapoor, Pei‐Ran Ho, Nolan Campbell, Ih Chang, Aaron Deykin, Fiona Forrestal, Nisha Lucas, Bei Yu, Douglas L. Arnold, Mark S. Freedman, Myla Goldman, Hans-Peter Hartung, Eva Havrdová, Douglas Jeffery, A Miller, Finn Sellebjerg, Diego Cadavid, Dan Mikol, Deborah Steiner, E Bartholomé, Marie D’hooghe, Massimo Pandolfo, Bart Van Wijmeersch, Virender Bhan, Gregg Blevins, Donald Brunet, Virginia Devonshire, Pierre Duquette, Mark S. Freedman, François Grand’Maison, François Jacques, Yves Lapierre, Liesly Lee, Sarah A. Morrow, Michael Yeung, Michal Dufek, Eva Havrdová, Petr Kaňovský, Ivana Štětkářová, Marika Talábová, Jette Lautrup Frederiksen, Matthias Kant, Thor Petersen, Mads Ravnborg, Finn Sellebjerg, Laura Airas, Irina Elovaara, Juha-Pekka Erälinna, Taneli Sarasoja, Abdullatif Al Khedr, David Brassat, Bruno Brochet, William Camu, Marc Debouverie, David Laplaud, Christine Lebrun‐Frénay, Jean Pelletier, Patrick Vermersch, Sandra Vukusi, Karl Baum, Achim Berthele, Juergen Faiss, Peter Flachenecker, Reinhard Hohlfeld, Markus Krumbholz, Christoph Lassek, Mathias Maeurer, Sven G. Meuth, Tjalf Ziemssen, Orla Hardiman, Christopher McGuigan, Anat Achiron, Dimitrios Karussis, Roberto Bergamaschi, Vincenzo Brescia Morra, Giancarlo Comi, Salvatore Cottone, Luigi M.E. Grimaldi, Giovanni Luigi Mancardi, Luca Massacesi, Ugo Nocentini, Marco Salvetti, Elio Scarpini, Patrizia Sola, Gioacchino Tedeschi, María Trojano, Mauro Zaffaroni, Stephan Frequin, Raymond Hupperts, Joep Killestein, Hans M. Schrijver, Ronald Van Dijl, Erik van Munster, Maciej Czarnecki, Wiesław Drozdowski, Waldemar Fryze, Hanka Hertmanowska, Jan Ilkowski, Anna Kamińska, Gabriela Kłodowska-Duda ほか 90 名 - The Lancet Neurology 2018 被引用: 337
- Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
著者: Victoria Campuzano, Laura Montermini, Yves Lutz, Lidia Cova, C. Hindelang, Sarn Jiralerspong, Yvon Trottier, Stephen J. Kish, Baptiste Faucheux, P Trouillas, François‐Jérôme Authier, Alexandra Dürr, Jean‐Louis Mandel, Angelo L. Vescovi, Massimo Pandolfo, M. Koenig - Human Molecular Genetics 1997 被引用: 741
- Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
著者: Heike Jacobi, Sophie Tézenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael Parkinson, Alexandra Dürr, Alexis Brice, Perrine Charles, Cécilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sułek, Anna Sobańska, Tanja Schmitz‐Hübsch, Lüdger Schöls, Holger Hengel, László Balikó, Béla Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P.C. van de Warrenburg, Dagmar Timmann, Sandra Szymanski, Sylvia Boesch, Jun-Suk Kang, Massimo Pandolfo, Jörg B. Schulz, Sonia Molho, Alhassane Diallo, Thomas Klockgether - The Lancet Neurology 2015 被引用: 299
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
著者: Maria-Ceù Moreira, Sandra Klur, Masao Watanabe, Andrea H. Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls, Massimo Pandolfo, Jörg B. Schulz, Jean Pouget, Patrick Calvas, Masami Shizuka‐Ikeda, Mikio Shoji, Μakoto Tanaka, Louise Izatt, Christopher E. Shaw, M’zahem Abderrahim, Eimear Dunne, Pascale Bomont, Traki Benhassine, Naïma Bouslam, Giovanni Stévanin, Alexis Brice, Joao C. Guimaraes, Pedro Mendonça, Clara Barbot, Paula Coutinho, Jorge Sequeiros, Alexandra Dürr, Jean‐Marie Warter, Michel Kœnig - Nature Genetics 2004 被引用: 521
- Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial
著者: Massimo Pandolfo, Javier Arpa, Martin B. Delatycki, Kim‐Hanh Le Quan Sang, Caterina Mariotti, Arnold Münnich, Irene Sanz‐Gallego, Geneieve Tai, Mark A. Tarnopolsky, Franco Taroni, Michael Spino, Fernando Tricta - Annals of Neurology 2014 被引用: 131
- The natural history of spinocerebellar ataxia type 1, 2, 3, and 6
著者: Heike Jacobi, Peter Bauer, Paola Giunti, Robyn Labrum, M G Sweeney, Perrine Charles, Alexandra Dürr, Cécilia Marelli, Christoph Globas, Christoph Linnemann, Lüdger Schöls, Maria Rakowicz, Rafał Rola, Elżbieta Zdzienicka, T. Schmitz-Hübsch, Roberto Fancellu, Caterina Mariotti, Chiara Tomasello, László Balikó, Béla Melegh, Alessandro Filla, Carlo Rinaldi, Bart P.C. van de Warrenburg, C.C.P. Verstappen, Sandra Szymanski, José Berciano, Jon Infante, Dagmar Timmann, Sylvia Boesch, Sascha Hering, Chantal Depondt, Massimo Pandolfo, J.-S. Kang, Susanne Ratzka, Jörg B. Schulz, Sophie Tézenas du Montcel, Thomas Klockgether - Neurology 2011 被引用: 228
- Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
著者: Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Michael Parkinson, Caterina Mariotti, Lorenzo Nanetti, Alexandra Dürr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Christian Rummey, Lüdger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Robyn Labrum, Gilbert Thomas‐Black, Katarina Manso, Nita Solanky, Cinzia Gellera, Alessia Mongelli, Anna Castaldo, Mario Fichera, Francesc Palau, Mar O’Callaghan, Marie Biet, Marie Lorraine Monin, Andreas Eigentler, Elisabetta Indelicato, Matthias Amprosi, Florentine Radelfahr, A. Bischoff, Florian Holtbernd, Nikolina Brčina, Christian Hohenfeld, Georgios Koutsis, Marianthi Breza, Enrico Bertini, Gessica Vasco - The Lancet Neurology 2021 被引用: 97
- Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
著者: Kathrin Reetz, Imis Dogan, Ana Sofia Costa, Manuel Dafotakis, Kathrin Fedosov, Paola Giunti, Michael Parkinson, Mary G. Sweeney, Caterina Mariotti, Marta Panzeri, Lorenzo Nanetti, Javier Arpa, Irene Sanz‐Gallego, Alexandra Dürr, Perrine Charles, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Ivan Karin, Chantal Depondt, Jennifer Müller vom Hagen, Lüdger Schöls, Ilaria Giordano, Thomas Klockgether, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz - The Lancet Neurology 2015 被引用: 211
- HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
著者: Mark McCormack, Ana Alfirevic, Stéphane Bourgeois, John Farrell, Dalia Kasperavičiūtė, Mary Carrington, Graeme J. Sills, Tony Marson, Xiaoming Jia, Paul I. W. de Bakker, Krishna Chinthapalli, Mariam Molokhia, Michael R. Johnson, Gerard D. O’Connor, Elijah Chaila, Saud Alhusaini, Kevin V. Shianna, Rodney A. Radtke, Erin L. Heinzen, Nicole Walley, Massimo Pandolfo, Werner J. Pichler, B. Kevin Park, Chantal Depondt, Sanjay M. Sisodiya, David B. Goldstein, Panos Deloukas, Norman Delanty, Gianpiero L. Cavalleri, Munir Pirmohamed - New England Journal of Medicine 2011 被引用: 913
- Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies
著者: Matthew Traylor, Martin Farrall, Elizabeth G Holliday, Cathie Sudlow, Jemma C. Hopewell, Yu‐Ching Cheng, Myriam Fornage, M. Arfan Ikram, Rainer Malik, Steve Bevan, Unnur Þorsteinsdóttir, Mike A. Nalls, W. T. Longstreth, Kerri L. Wiggins, Sunaina Yadav, Eugenio Parati, Anita L. DeStefano, Bradford B. Worrall, Steven J. Kittner, Muhammad Saleem Khan, Alex P. Reiner, Anna Helgadóttir, Sefanja Achterberg, Israel Fernández‐Cadenas, Shérine Abboud, Reinhold Schmidt, James Walters, Wei‐Min Chen, E. Bernd Ringelstein, Martin O’Donnell, Weang-Kee Ho, Joanna Pera, Robin Lemmens, Bo Norrving, Peter Higgins, Marianne Benn, Michèle M. Sale, Gregor Kuhlenbäumer, Alex S. F. Doney, Astrid M. Vicente, Hossein Delavaran, Ale Algra, Gail Davies, Sofia A. Oliveira, Colin N A Palmer, Ian J. Deary, Helena Schmidt, Massimo Pandolfo, Joan Montaner, Cara L. Carty, Paul I. W. de Bakker, Konstantinos Kostulas, José M. Ferro, Natalie R. van Zuydam, Einar Már Valdimarsson, Børge G. Nordestgaard, Arne Lindgren, Vincent Thijs, Agnieszka Słowik, Danish Saleheen, Guillaume Paré, Klaus Berger, Guðmar Þorleifsson, Albert Hofman, Thomas H. Mosley, Braxton D. Mitchell, Karen L. Furie, Robert Clarke, Christopher Levi, Sudha Seshadri, Andreas Gschwendtner, Giorgio B. Boncoraglio, Pankaj Sharma, Joshua C Bis, Sólveig Grétarsdóttir, Bruce M. Psaty, Peter M. Rothwell, Jonathan Rosand, James F. Meschia, Kāri Stefánsson, Martin Dichgans, Hugh S. Markus - The Lancet Neurology 2012 被引用: 487
- Sticky DNA
著者: Naoaki Sakamoto, Paul D. Chastain, Paweł Parniewski, Keiichi Ohshima, Massimo Pandolfo, Jack D. Griffith, Robert D. Wells - Molecular Cell 1999 被引用: 315
- Epigenetic therapy for Friedreich ataxia
著者: Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David B. Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau, Jintang Du, Pablo Peñalver, Myriam Rai, Joseph C. Madara, Kristopher L. Nazor, Melinda O’Connor, Anton Maximov, Jeanne F. Loring, Massimo Pandolfo, Luca Durelli, Joel Gottesfeld, James R. Rusche - Annals of Neurology 2014 被引用: 148
- Friedreich ataxia: The clinical picture
著者: Massimo Pandolfo - Journal of Neurology 2009 被引用: 394
- Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6
著者: Kathrin Reetz, Ana Sofia Costa, Shahram Mirzazade, Anna Lehmann, Agnes Juzek, Maria Rakowicz, Romana Bogusławska, Lüdger Schöls, Christoph Linnemann, Caterina Mariotti, Marina Grisoli, Alexandra Dürr, Bart P.C. van de Warrenburg, Dagmar Timmann, Massimo Pandolfo, Peter Bauer, Heike Jacobi, Till‐Karsten Hauser, Thomas Klockgether, Jörg B. Schulz, the Ataxia Study Group Investigators - Brain 2013 被引用: 160
- Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study
著者: Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Dürr, Alexis Brice, Perrine Charles, Cécilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobańska, Anna Sułek, Tanja Schmitz‐Hübsch, Lüdger Schöls, Holger Hengel, Béla Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P.C. van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B. Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tézenas du Montcel - The Lancet Neurology 2018 被引用: 126
- Central Nervous System Therapeutic Targets in Friedreich Ataxia
著者: Ian H. Harding, David R. Lynch, Arnulf H. Koeppen, Massimo Pandolfo - Human Gene Therapy 2020 被引用: 49
- Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
著者: Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer, Karla P. Figueroa, Yaeko Ichikawa, Alessandro Brussino, Sylvie Forlani, Maria Rakowicz, Lüdger Schöls, Caterina Mariotti, Bart P.C. van de Warrenburg, Laura Orsi, Paola Giunti, Alessandro Filla, Sandra Szymanski, Thomas Klockgether, José Berciano, Massimo Pandolfo, Sylvia Boesch, Béla Melegh, Dagmar Timmann, Paola Mandich, Agnès Camuzat, Jun Goto, Tetsuo Ashizawa, Cécile Cazeneuve, Shoji Tsuji, Stefan-M. Pulst, Alfredo Brusco, Olaf Rieß, Alexis Brice, Giovanni Stévanin - Brain 2014 被引用: 178
- Recessive cerebellar and afferent ataxias — clinical challenges and future directions
著者: Marie Beaudin, Mario Manto, Jeremy D. Schmahmann, Massimo Pandolfo, Nicolas Dupré - Nature Reviews Neurology 2022 被引用: 30
- Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
著者: Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Thomas Klockgether, Katrin Bürk, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Manuel Dafotakis, Kathrin Fedosov, Claire Didszun, Ummehan Ermis, Ilaria Giordano, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Marta Panzeri, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney - The Lancet Neurology 2016 被引用: 157
- PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia
著者: Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo - PLoS ONE 2010 被引用: 142
- A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia
著者: Françoise Pousset, L. Legrand, Marie‐Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tézenas du Montcel, Alexandra Dürr - JAMA Neurology 2015 被引用: 111
- GGA·TCC-interrupted Triplets in Long GAA·TTC Repeats Inhibit the Formation of Triplex and Sticky DNA Structures, Alleviate Transcription Inhibition, and Reduce Genetic Instabilities
著者: Naoaki Sakamoto, Jacquelynn E. Larson, Ravi R. Iyer, Laura Montermini, Massimo Pandolfo, Robert D. Wells - Journal of Biological Chemistry 2001 被引用: 90
- Onset features and time to diagnosis in Friedreich’s Ataxia
著者: Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Dürr, Thomas Klopstock, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch - Orphanet Journal of Rare Diseases 2020 被引用: 66
