Giacomo P. Comi
1988–2025 年に発表
- 202
- 論文数
- 20,274
- 被引用数
- 90
- h 指数
- 195
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology45.9%
- Medicine42.5%
- Neuroscience7.4%
- Immunology and Microbiology1.5%
- Engineering0.5%
- Nursing0.5%
- その他1.7%
トピック
- Mitochondrial Function and Pathology7.1%
- Neurogenetic and Muscular Disorders Research6.8%
- Amyotrophic Lateral Sclerosis Research5.4%
- Muscle Physiology and Disorders5.3%
- Metabolism and Genetic Disorders3.6%
- ATP Synthase and ATPases Research2.8%
- その他69%
共著者
- Stefania Corti85
- Nereo Bresolin73
- Francesca Magri40
- Dario Ronchi38
- Maurizio Moggio33
- Roberto Del Bo33
- Tiziana Mongini25
- Adele D’Amico22
- Monica Sciacco22
- Andreina Bordoni21
- Angela Berardinelli21
- Elena Abati21
- Megi Meneri20
- Monica Nizzardo20
- Sabrina Salani20
- Sonia Messina20
- Delia Gagliardi19
- Elena Pegoraro19
- Luca Bello19
- Enrico Bertini18
- António Toscano17
- Claudio Bruno17
- Eugenio Mercuri17
- Francesco Fortunato17
全論文
- The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease
著者: Giacomo Monzio Compagnoni, Alessio Di Fonzo, Stefania Corti, Giacomo P. Comi, Nereo Bresolin, Eliezer Masliah - Molecular Neurobiology 2020 被引用: 381
- Neural Stem Cell Transplantation for Neurodegenerative Diseases
著者: Roberta Gioia, Fabio Biella, Gaia Citterio, Federica Rizzo, Elena Abati, Monica Nizzardo, Nereo Bresolin, Giacomo P. Comi, Stefania Corti - International Journal of Molecular Sciences 2020 被引用: 245
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
著者: Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug‐Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa H. Chand, Sitra Tauscher‐Wisniewski, Nuno Mendonça, Arseniy Lavrov, Andrea Seferian, S. De Lucia, Shotaro Tachibana, A. Jollet, S. Mouffak, Marina Pedemonte, Noemi Brolatti, Simone Morando, Arnaud Vanlander, Elke De Vos, Valentine Tahon, Alessandra Govoni, Francesca Magri, Giacomo P. Comi, Michaela Foà, Valeria Parente, L. Buscemi, Fabian Dal Farra, Olga Schneider, Anovick Jonas, A.C. Defeldre, Emanuela Pagliano, Riccardo Zanin, Maria Teresa Arnoldi, Veronica Schembri, M. Del Sole, Anna Mandelli, Maria Carmela Pera, Laura Antonaci, Giorgia Coratti, Rita De Sanctis, Marika Pane, Mariacristina Scoto, Katie Groves, Lisa Edel, François Abel, H. van Ruiten, R. Muni Lofra, E. T. Thompson - The Lancet Neurology 2021 被引用: 256
- Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
著者: Eugenio Mercuri, Juan J. Vílchez, Odile Boespflug‐Tanguy, Craig M. Zaidman, Jean K. Mah, Nathalie Goemans, Wolfgang Müller‐Felber, E. Niks, Ulrike Schara‐Schmidt, Enrico Bertini, Giacomo P. Comi, Katherine D Mathews, Laurent Servais, Krista Vandenborne, Jessika Johannsen, Sonia Messina, Stefan Spinty, Laura McAdam, Kathryn Selby, Barry J. Byrne, Chamindra G. Laverty, Kevin Carroll, Giulia Zardi, Sara Cazzaniga, N. Coceani, P. Bettica, Craig M. McDonald, Gyula Acsádi, Giovanni Baranello, Astrid Blaschek, John F. Brandsema, Claudia Brogna, Claudio Bruno, Anne M. Connolly, Imelda J. M. de Groot, Liesbeth De Waele, Erika Finanger, Richard S. Finkel, Teresa Gidaro, M. Guglieri, Amy Harper, Mercedes López Lobato, Marcos Madruga Garrido, Francesca Magri, Georgios Manousakis, Riccardo Masson, Migvis Monduy, Nuria Muelas Gómez, Francina Munell, A. Nascimento, Yoram Nevo, Yann Péréon, H. Phan, Valeria Sansone, Mariacristina Scoto, Dragana Vučinić, Tracey Willis - The Lancet Neurology 2024 被引用: 120
- TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models
著者: Miriam Longo, Marica Meroni, Erika Paolini, Veronica Erconi, Fabrizia Carli, Francesco Fortunato, Dario Ronchi, Roberto Piciotti, Silvia Sabatini, Chiara Macchi, Anna Alisi, Luca Miele, Giorgio Soardo, Giacomo P. Comi, Luca Valenti, Massimiliano Ruscica, Anna Ludovica Fracanzani, Amalia Gastaldelli, Paola Dongiovanni - Cellular and Molecular Gastroenterology and Hepatology 2021 被引用: 109
- Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
著者: Lorenzo Maggi, Luca Bello, Silvia Bonanno, Alessandra Govoni, Claudia Caponnetto, Luigia Passamano, Marina Grandis, Francesca Trojsi, Federica Cerri, Manfredi Ferraro, Virginia Bozzoni, Luca Caumo, Rachele Piras, Raffaella Tanel, Elena Saccani, Megi Meneri, Veria Vacchiano, Giulia Ricci, Gianni Soraru', Eustachio D’Errico, Irene Tramacere, Sara Bortolani, Giovanni Pavesi, Riccardo Zanin, Mauro Silvestrini, Luisa Politano, Angelo Schenone, Stefano C. Previtali, Angela Berardinelli, Mara Turri, Lorenzo Verriello, Michela Coccia, Renato Mantegazza, Rocco Liguori, Massimiliano Filosto, Gianni Marrosu, Gabriele Siciliano, Isabella Laura Simone, Tiziana Mongini, Giacomo P. Comi, Elena Pegoraro - Journal of Neurology Neurosurgery & Psychiatry 2020 被引用: 190
- SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
著者: Francesco Tafuri, Dario Ronchi, Francesca Magri, Giacomo P. Comi, Stefania Corti - Frontiers in Cellular Neuroscience 2015 被引用: 156
- Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS)
著者: Elena Abati, Nereo Bresolin, Giacomo P. Comi, Stefania Corti - Expert Opinion on Therapeutic Targets 2020 被引用: 106
- Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
著者: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martín, Francis Warren, R. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Cathérine Cassiman, Lies Prové, Lisa Vancampenhout, M. van den Hauwe, Annelies Van Impe, C. Cancès, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Brémond‐Gignac, Maxence Rateuax, E. Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stéphanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Janbernd Kirschner, Jan Bollig, Fanni Molnár, Sibylle Emilie Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuß, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, M Stoehr, Bárbara Andres, Karin Smuda, Enrico Bertini, Adele D’Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo P. Comi, Silvia Osnaghi ほか 108 名 - Neurology and Therapy 2023 被引用: 54
- Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
著者: Elena Abati, Arianna Manini, Giacomo P. Comi, Stefania Corti - Cellular and Molecular Life Sciences 2022 被引用: 76
- Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
著者: Bradley Smith, Nicola Ticozzi, Claudia Fallini, Soragia Athina Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric Danielson, Claire Troakes, Cinzia Tiloca, Safa Al‐Sarraj, Elizabeth Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Michael A. Simpson, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarú, Karen Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin - Neuron 2014 被引用: 370
- Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids
著者: Gianluca Costamagna, Giacomo P. Comi, Stefania Corti - International Journal of Molecular Sciences 2021 被引用: 85
- Histological effects of givinostat in boys with Duchenne muscular dystrophy
著者: P. Bettica, Stefania Petrini, Valentina Doria, Adele D’Amico, Michela Catteruccia, Marika Pane, Serena Sivo, Francesca Magri, Simona Brajkovic, Sonia Messina, Gian Luca Vita, Barbara Gatti, Maurizio Moggio, Prem Puri, Maurizio Rocchetti, Giuseppe De Nicolao, Giuseppe Vita, Giacomo P. Comi, Enrico Bertini, Eugenio Mercuri - Neuromuscular Disorders 2016 被引用: 207
- Conversion from clinically isolated syndrome to multiple sclerosis: A large multicentre study
著者: Jens Kühle, Giulio Disanto, Ruth Dobson, Rocco Adiutori, Luca Bianchi, J. Topping, JP. Bestwick, U-C Meier, Mónica Marta, Gloria Dalla Costa, Tessel F. Runia, E. P. Evdoshenko, N. Lazareva, Éric Thouvenot, Pietro Iaffaldano, Vita Direnzo, Mohsen Khademi, Fredrik Piehl, Manuel Comabella, M.H. Sombekke, Joep Killestein, Harald Hegen, Stefan Rauch, Sandra D’Alfonso, JC Alvarez-Cermeño, Pavlína Kleinová, Dana Horáková, Romy Roesler, Florian Lauda, Sara Llufriú, Timuçin Avşar, Uğur Uygunoğlu, Ayşe Altıntaş, Sabahattin Saip, Til Menge, Cecília Rajda, Roberto Bergamaschi, Natalia Moll, Michael Khalil, Romain Marignier, Irena Dujmović, Henrik Larsson, Clas Malmeström, Elio Scarpini, Chiara Fenoglio, Stig Wergeland, Alice Laroni, Viviana Annibali, Silvia Romano, A. Martinez, Adriana Carrá, Marco Salvetti, Antonio Uccelli, Øivind Torkildsen, K-M Myhr, Daniela Galimberti, Konrad Rejdak, Jan Lycke, Jette Lautrup Frederiksen, Jelena Drulović, Cyrille B. Confavreux, David Brassat, Christian Enzinger, Siegrid Fuchs, Isabel Boscá, Jean Pelletier, Christophe Picard, Elena Colombo, D. Franciotta, Tobias Derfuß, RLP Lindberg, Özgür Yaldizli, László Vécsei, BC Kieseier, HP Hartung, Pablo Villoslada, Aksel Sıva, Albert Saiz, Hayrettin Tumani, Eva Havrdová, Luisa María Villar, Maurizio Leone, Nadia Barizzone, Florian Deisenhammer, C Teunissen, Xavier Montalbán, Mar Tintoré, Tomas Olsson, María Trojano, Sylvain Lehmann, Giovanni Castelnovo, С. В. Лапин, Rogier Hintzen, L Kappos, Roberto Furlan, V Martinelli, Giacomo P. Comi, SV Ramagopalan, Gavin Giovannoni - Multiple Sclerosis Journal 2015 被引用: 296
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
著者: Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada F. Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian A. Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chiò, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarú, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner ほか 198 名 - JAMA Neurology 2021 被引用: 84
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
著者: Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti, Kaisu Nikali, Qiu-Ping Yuan, Muhammed Tariq, Sjoerd Wanrooij, Nuria Garrido, Giacomo P. Comi, Lucía Morandi, Lucio Santoro, António Toscano, Gian-Maria Fabrizi, Hannu Somer, R Croxen, David Beeson, Joanna Poulton, Anu Suomalainen, Howard T. Jacobs, Massimo Zeviani, Catharina Larsson - Nature Genetics 2001 被引用: 882
- Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence
著者: Arianna Manini, Elena Abati, Andi Nuredini, Stefania Corti, Giacomo P. Comi - Frontiers in Neurology 2022 被引用: 65
- Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
著者: Silvia Lanfranconi, Elisa Scola, Jennifer Meessen, Roberto Pallini, Giulio Bertani, Rustam Al‐Shahi Salman, Elisabetta Dejana, Roberto Latini, Giorgia Abete Fornara, Nicolò M. Agnelli, Alessio Albanese, Issam A. Awad, Renzo Bagnati, Giovanna Balconi, Elena Ballabio, Ettore Beghi, Roberto Bernasconi, Giulio Bertani, Silvia Besana, Adriana Blanda, Chiara Bossi, Nereo Bresolin, Maria G. Buratti, Roberta Calabrese, Maria Rita Carriero, Marco Castori, Elisa F. Ciceri, Rossella Ciurleo, Giacomo P. Comi, Valeria Elisa Contarino, Giorgio Conte, Leonardo D’Agruma, Giorgio Q. D'Alessandris, Ugo de Grazia, Rina Di Bonaventura, Piergiorgio d’Orio, Giuseppe Faragò, Andreana Foresta, Carmela Fusco, Chiara Gaudino, Maria Grazia Lampugnani, Alessia Lanno, Francesca Lazzaroni, Cornelia Lee, Marco Locatelli, Aldo P. Maggioni, Peetra U. Magnusson, Matteo Malinverno, Maurizio Mangiavacchi, Antonella Mangraviti, Silvia Marino, Selene Mazzola, Enrico Nicolis, Deborah Novelli, Maria L. Ojeda Fernandez, Antonio Petracca, Fabrizio Pignotti, Simona Pogliani, M. Poloni, A. Prelle, Pamela Raggi, Franca Raucci, Caroline Regna‐Gladin, Dario Ronchi, Emma Scelzo, Salim Abdelilah‐Seyfried, Anna Simeone, Carmelo Lucio Sturiale, Laura Tassi, Mauro Tettamanti, Valter Torri, Elisabeth Tournier‐Lasserve, Rita Treglia, Fabio Triulzi, Celeste Ungaro, Elison Ursi, Gloria Valcamonica, Antonella Vasamì, Barbara Zarino - The Lancet Neurology 2022 被引用: 62
- Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
著者: Mafalda Rizzuti, Valentina Melzi, Delia Gagliardi, Davide Resnati, Megi Meneri, Laura Dioni, Pegah Masrori, Nicole Hersmus, Koen Poesen, Martina Locatelli, Fabio Biella, Rosamaria Silipigni, Valentina Bollati, Nereo Bresolin, Giacomo P. Comi, Philip Van Damme, Monica Nizzardo, Stefania Corti - Cellular and Molecular Life Sciences 2022 被引用: 34
- Ataluren treatment of patients with nonsense mutation dystrophinopathy
著者: K. Bushby, Richard S. Finkel, Brenda Wong, Richard J. Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, John W. Day, Kevin M. Flanigan, Nathalie Goemans, Kristi Jones, Eugenio Mercuri, Rosaline C. M. Quinlivan, J. Ben Renfroe, Barry S. Russman, Monique M. Ryan, M. Tulinius, Thomas Voït, Steven A. Moore, H. Lee Sweeney, Richard T. Abresch, Kim L. Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M. Glanzman, Erik Henricson, Jay Barth, Gary Elfring, A. Reha, Robert J. Spiegel, Michael W. O'donnell, Stuart W. Peltz, Craig M. McDonald, FOR THE PTC124‐GD‐007‐DMD STUDY GROUP - Muscle & Nerve 2014 被引用: 426
- Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
著者: Irene Faravelli, Megi Meneri, Domenica Saccomanno, Daniele Velardo, Elena Abati, Delia Gagliardi, Valeria Parente, Lucia Petrozzi, Dario Ronchi, Nino Stocchetti, Edoardo Calderini, Maria Grazia D’Angelo, Giovanna Chidini, Edi Prandi, Giulia Ricci, Gabriele Siciliano, Nereo Bresolin, Giacomo P. Comi, Stefania Corti, Francesca Magri, Alessandra Govoni - Journal of Cellular and Molecular Medicine 2020 被引用: 75
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
著者: Russell L. McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R. van Eijk, Margaret O’Brien, René S. Kahn, Roel A. Ophoff, An Goris, Daniel G. Bradley, Ammar Al‐Chalabi, Leonard H. van den Berg, Jurjen J. Luykx, Orla Hardiman, Jan H. Veldink, Aleksey Shatunov, Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Rick A. A. van der Spek, Perry T.C. van Doormaal, William Sproviero, Ashley R. Jones, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Denis C. Bauer, Tim Kahlke, Kelly L. Williams, Filip Eftimov, Isabella Fogh, Nicola Ticozzi, Kuang Lin, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Martina Wiedau‐Pazos, Catherine Lomen‐Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, Nazlı Başak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöuthen, Philippe Amouyel, Christophe Tzourio, Jean François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Marianne de Visser, Markus Weber, Christopher E. Shaw, Bradley Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P. Comi, Sandra D’Alfonso ほか 336 名 - Nature Communications 2017 被引用: 156
- Redefining phenotypes associated with mitochondrial DNA single deletion
著者: Michelangelo Mancuso, Daniele Orsucci, C. Angelini, Enrico Bertini, Valério Carelli, Giacomo P. Comi, Maria Alice Donati, Antonio Federico, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Filippo M. Santorelli, Serenella Servidei, Paola Tonin, António Toscano, Claudio Bruno, Luca Bello, Elena Caldarazzo Ienco, Elena Cardaioli, Michela Catteruccia, Paola Da Pozzo, Massimiliano Filosto, Costanza Lamperti, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Dario Ronchi, Donato Sauchelli, Mauro Scarpelli, Monica Sciacco, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano - Journal of Neurology 2015 被引用: 106
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
著者: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria Landqvist Waldö, Per Johansson, Christer Nilsson, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Khrista Boylan, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown ほか 372 名 - Neuron 2020 被引用: 83
