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G

Giacomo P. Comi

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
H指数:92
被引数:3.3万

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High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

英国生物银行中SOD1致病性变异的高患病率：对肌萎缩侧索硬化症早期干预的启示

Annals of Neurology
IF7.7
2026-03-190
OAAI
Delia Gagliardi MD, PhD; Chiara Villella BS; Matteo Zanovello MD, PhD; Virginia Iacobelli MD, PhD; Stefania Corti MD, PhD; Giacomo Pietro Comi MD; Pietro Fratta MD, PhD; Henry Houlden MD, PhD; Arianna Tucci MD, PhD; Dario Ronchi PhD
AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model

AAV9基因治疗在SMARD1/CMT2S中的优化：在SMARD1临床前模型中两种载体的安全性与长期疗效比较

Journal of Biomedical Science
IF12.1
2026-01-040
OAAI
Elisa Pagliari; Alessia Anastasia; Floriana Bellandi; Manuela Garbellini; Jessica Ongaro; Michela Taiana; Giacomo P. Comi; Linda Ottoboni; Julieth Andrea Sierra-Delgado; Shibi Likhite; Kathrin C. Meyer; Monica Nizzardo; Stefania P. Corti
Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids

靶向反义寡核苷酸治疗可挽救脊髓性肌萎缩症类器官中的发育改变

Nature Communications
IF15.7
2025-12-210
OAAI
Irene Faravelli; Paola Rinchetti; Monica Tambalo; Illia Simutin; Lisa Mapelli; Sara Mancinelli; Matteo Miotto; Mafalda Rizzuti; Andrea D’Angelo; Chiara Cordiglieri; Giulia Forotti; Clelia Peano; Paolo Kunderfranco; Luca Calandriello; Giacomo P. Comi; Elvezia Paraboschi; Eleonora Pali; Francesca Beatrice; Egidio D’Angelo; Serge Przedborski; Monica Nizzardo; Simona Lodato; Stefania Corti
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-12-010
OAAI
Costa-comellas, Laura; Monforte, Mauro; Sanchez-montanez, Angel; Romero-duque, Penelope; Pegoraro, Elena; Diaz-manera, Jordi; Vlodavets, Dmitry; Maggi, Lorenzo; Moscatelli, Marco; Damico, Adele; Olive, Montse; Alonso-perez, Jorge; Comi, Giacomo; Escudero-fernandez, Jose Miguel; Urcuyo, Gabriela S.; Pichiecchio, Anna; Berardinelli, Angela; Claeys, Kristl G.; Bruno, Claudio; Panicucci, Chiara; Bortolani, Sara; Torchia, Eleonora; Ricci, Enzo; Monges, Soledad; Bevilacqua, Jorge A.; Diaz-jara, Jorge; Walter, Maggie C.; Thiele, Simone; Lokken, Nicoline; Vissing, John; Quijano-roy, Susana; Carlier, Robert Y.; Voermans, Nicol C.; Marini-bettolo, Chiara; Guglieri, Michela; Straub, Volker; Leonardis, Lea; Munell, Francina; Gomez-andres, David; Tasca, Giorgio
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

POPDC2基因的杂合变异导致一种常染色体隐性综合征，其表现为心脏传导缺陷和肥厚型心肌病。

american journal of human genetics
IF0
2025-05-220
OA
Michele Nicastro; Alexa M.C. Vermeer; Pieter G. Postema; Rafik Tadros; Forrest Z. Bowling; Hildur M. Aegisdottir; Vinicius Tragante; Lukas Mach; Alex V. Postma; Elisabeth M. Lodder; Karel van Duijvenboden; Rob Zwart; Leander Beekman; Lingshuang Wu; Sean J. Jurgens; Paul A. van der Zwaag; Mariëlle Alders; Mona Allouba; Yasmine Aguib; J. Luis Santome; David de Una; Lorenzo Monserrat; Antonio M.A. Miranda; Kazumasa Kanemaru; James Cranley; Ingeborg E. van Zeggeren; Eleonora M.A. Aronica; Michela Ripolone; Simona Zanotti; Gardar Sveinbjornsson; Erna V. Ivarsdottir; Hilma Hólm; Daníel F. Guðbjartsson; Ástrós Th. Skúladóttir; Kári Stefánsson; Lincoln Nadauld; Kirk U. Knowlton; Sisse Rye Ostrowski; Erik Sørensen; Ole Birger Vesterager Pedersen; Jonas Ghouse; Søren A. Rand; Henning Bundgaard; Henrik Ullum; Christian Erikstrup; Bitten Aagaard; Mie Topholm Bruun; Mette Christiansen; Henrik K. Jensen; Deanna Alexis Carere; Christopher T. Cummings; Kristen Fishler; Pernille Mathiesen Tørring; Klaus Brusgaard; Trine Maxel Juul; Lotte Saaby; Bo Gregers Winkel; Jens Mogensen; Francesco Fortunato; Giacomo Pietro Comi; Dario Ronchi; J. Peter van Tintelen; Michela Noseda; Michael V. Airola; Imke Christiaans; Arthur A.M. Wilde; Ronald Wilders; Sally-Ann Clur; Arie O. Verkerk; Connie R. Bezzina; Najim Lahrouchi
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

意大利杜氏肌营养不良症的患病率: 一项全国性调查

EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2024-12-160
PRE
Capasso, Anna; Cicala, Gianpaolo; Ricci, Martina; Pane, Marika; D'Amico, Adele; Bruno, Claudio; Sansone, Valeria Ada; Messina, Sonia; Bello, Luca; Pegoraro, Elena; D'Angelo, Maria Grazia; Masson, Riccardo; Berardinelli, Angela; Pini, Antonella; Ricci, Federica; Mongini, Tiziana Enrica; Coccia, Michela; Nigro, Vincenzo; Trabacca, Antonio; Filosto, Massimiliano; Comi, Giacomo; Magri, Francesca; Barp, Andrea; Battini, Roberta; Previtali, Stefano Carlo; Valentino, Maria Lucia; Diella, Eleonora; Dosi, Claudia; Ruggiero, Lucia; Siciliano, Gabriele; Ricci, Giulia; Catteruccia, Michela; Arpaia, Chiara; Coratti, Giorgia; Norcia, Giulia; Bonanno, Silvia; Verriello, Lorenzo; Agosto, Caterina; Varone, Antonio; Ferlini, Alessandra; Maioli, Maria Antonietta; Brogna, Claudia; Siliquini, Sabrina; Bruno, Irene; Panicucci, Chiara; Allegra, Cosimo; Albamonte, Emilio; Mercuri, Eugenio; Italian DMD Grp, Concetta
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
ANNALS OF NEUROLOGY
IF7.7
2024-09-041
OA
Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies Experience From the Italian Network
NEUROLOGY
IF8.5
2024-08-271
PRE
Bortolani, Sara; Savarese, Marco; Vattemi, Gaetano; Bonanno, Silvia; Falzone, Yuri M.; Pugliese, Alessia; Primiano, Guido; Sancricca, Cristina; Lopergolo, Diego; Greco, Giulia; Gemelli, Chiara; Ravaglia, Sabrina; Bencivenga, Roberta P.; Velardo, Daniele; Magri, Francesca; Valentino, Maria L.; Cheli, Marta; Torchia, Eleonora; Lucchini, Matteo; Petrucci, Antonio; Ricci, Giulia; Garibaldi, Matteo; Astrea, Guja; Rubegni, Anna; Angelini, Corrado I.; Ariatti, Alessandra; Santorelli, Filippo M.; Ruggieri, Alessandra; Antonini, Giovanni; Siciliano, Gabriele; Filosto, Massimiliano; Mirabella, Massimiliano; Liguori, Rocco; Comi, Giacomo P.; Ruggiero, Lucia; Grandis, Marina; Massa, Roberto; Malandrini, Alessandro; Servidei, Serenella; Mongini, Tiziana E.; Rodolico, Carmelo; Toscano, Antonio; Previtali, Stefano C.; Tonin, Paola; Diaz-Manera, Jordi; Monforte, Mauro; Ricci, Enzo; Maggi, Lorenzo; Tasca, Giorgio

研究方向

暂未获取到该数据
N
Nereo Bresolin
H 指数:84论文数:839被引数:2.7万
S
Stefania Corti
H 指数:65论文数:421被引数:1.3万
R
Roberto Del Bo
H 指数:51论文数:240被引数:8,540
D
Dario Ronchi
H 指数:38论文数:206被引数:4,896
M
Maurizio Moggio
H 指数:70论文数:380被引数:1.3万
A
Andreina Bordoni
H 指数:37论文数:163被引数:4,485
M
Monica Nizzardo
H 指数:37论文数:114被引数:4,188
M
Manuela Sironi
H 指数:51论文数:251被引数:9,496
R
Rachele Cagliani
H 指数:39论文数:206被引数:5,726
M
Monica Sciacco
H 指数:40论文数:157被引数:5,780