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V

Vincenzo Nigro

university of campania luigi vanvitelli
H指数:55
被引数:1.2万

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Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP

源自意大利南部的共同祖先：两个扩张型心肌病家族共享相同的NRAP纯合失活突变位点

Genes 2025, Vol. 16, Page 1470
IF2.8
2025-12-090
OAAI
Maria Elena Onore; Martina Caiazza; Catia Mio; Gioacchino Scarano; Pasquale Di Letto; Sarah Iffat Rahman; Emanuele Monda; Cristiano Amarelli; Rossella Nicoletta Borrelli; Flavio Faletra; Vincenzo Nigro; Giuseppe Limongelli; Giulio Piluso
De novo variants in ATP2B1 lead to neurodevelopmental delay

ATP2B1的新发变异导致神经发育迟缓

The American Journal of Human Genetics
IF0
2025-11-110
PRE
Meer Jacob Rahimi; Nicole Urban; Meret Wegler; Heinrich Sticht; Michael Schaefer; Bernt Popp; Frank Gaunitz; Manuela Morleo; Vincenzo Nigro; Silvia Maitz; Grazia M.S. Mancini; Claudia Ruivenkamp; Eun-Kyung Suk; Tobias Bartolomaeus; Andreas Merkenschlager; Daniel Koboldt; Dennis Bartholomew; Alexander P.A. Stegmann; Margje Sinnema; Irma Duynisveld
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20

杜氏肌营养不良症上肢进展：基于36个月纵向研究使用PUL 20的见解

Journal of Neuromuscular Diseases
IF3.4
2025-09-180
OA
Giorgia Coratti; Marika Pane; Sophia Paolucci; Luca Bello; Adele D’Amico; Angela Berardinelli; Michela Catteruccia; Giacomo De Luca; Riccardo Masson; Riccardo Zanin; Roberta Battini; Claudia Dosi; Silvia Frosini; Alice Gardani; Bianca Buchignani; Anna Capasso; Federica Ricci; Gianpaolo Cicala; Ilaria Cavallina; Enrica Rolle; Tiziana Enrica Mongini; Valeria Ada Sansone; Emilio Albamonte; Antonella Pini; Melania Giannotta; Chiara Panicucci; Riccardo Not; Claudio Bruno; Vincenzo Nigro; Esther Picillo; Elena Pegoraro; Eugenio Mercuri
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

DEGS1基因的缺失检测应作为诊断少突胶质细胞减少性脑白质营养不良（HLD18）流程的一部分。

HUMAN MUTATION
IF3.7
2025-05-070
OA
Zanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity

贝克肌营养不良的自然史：DMD基因突变预测临床严重程度

BRAIN
IF11.7
2024-11-050
PRE
Gorgoglione, Domenico; Sabbatini, Daniele; Riguzzi, Pietro; Capece, Giuliana; Pane, Marika; Servidei, Serenella; Briganti, Marta; Sancricca, Cristina; Bruschi, Fabio; Ardissone, Anna; Masson, Riccardo; Gallone, Annamaria; Maggi, Lorenzo; Picillo, Esther; Politano, Luisa; Petrosino, Angela; Vianello, Sara; Penzo, Martina; Villa, Matteo; Sframeli, Maria; Allegra, Cosimo; Barp, Andrea; Di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Colacicco, Giovanni; Panicucci, Chiara; Traverso, Monica; Palermo, Concetta; Lerario, Alberto; Velardo, Daniele; D'Angelo, Maria G.; Berardinelli, Angela; Gardani, Alice; Nicotra, Roberta; Parravicini, Stefano; Siciliano, Gabriele; Ricci, Giulia; Torri, Francesca; Gadaleta, Giulio; Urbano, Guido; Rolle, Enrica; Ricci, Federica; D'Amico, Adele; Catteruccia, Michela; Pini, Antonella; Giannotta, Melania; Battini, Roberta; Marinella, Gemma; Previtali, Stefano C.; Zambon, Alberto A.; Ferlini, Alessandra; Fortunato, Fernanda; Magri, Francesca; Mongini, Tiziana E.; Sansone, Valeria A.; Bruno, Claudio; Messina, Sonia; Nigro, Vincenzo; Moroni, Isabella; Mercuri, Eugenio; Bello, Luca; Pegoraro, Elena
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple cafe-au-lait macules

LZTR1中功能缺失变体的杂合性与孤立的多个cafe-au-lait斑疹相关

GENETICS IN MEDICINE
IF6.2
2024-11-010
PRE
Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Curro, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
LAB ANIMAL
IF3.9
2024-06-240
OAAI
Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍

GENETICS IN MEDICINE
IF6.2
2024-05-012
OAAI
Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
GENETICS IN MEDICINE
IF6.2
2024-04-013
OA
Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogne, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggar, Kevin; Capra, Valeria; Bezieau, Stephane; Davis, Erica E.; Wells, Michael F.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-014
PRE
Jones, Amy G.; Aquilino, Matilde; Tinker, Rory J.; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L.; Deward, Stephanie J.; Grange, Dorothy K.; Hajianpour, Mj; Halliday, Benjamin J.; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I.; Polster, Tilman; Spano, Alice; Gomez-Lozano, Ines; Kumar, Abhishek; Poke, Gemma; Phillips, John A.; Underhill, Hunter R.; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
NATURE COMMUNICATIONS
IF15.7
2024-01-082
OAAI
Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-01-026
OAAI
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

通过外显子组测序解剖眼睑肌阵挛性癫痫谱系的遗传学

EPILEPSIA
IF6.6
2023-12-235
OAAI
Coppola, Antonietta; Krithika, S.; Iacomino, Michele; Bobbili, Dheeraj; Balestrini, Simona; Bagnasco, Irene; Bilo, Leonilda; Buti, Daniela; Casellato, Susanna; Cuccurullo, Claudia; Ferlazzo, Edoardo; Leu, Costin; Giordano, Lucio; Gobbi, Giuseppe; Hernandez-Hernandez, Laura; Lench, Nick; Martins, Helena; Meletti, Stefano; Messana, Tullio; Nigro, Vincenzo; Pinelli, Michele; Pippucci, Tommaso; Bellampalli, Ravishankara; Salis, Barbara; Sofia, Vito; Striano, Pasquale; Striano, Salvatore; Tassi, Laura; Vignoli, Aglaia; Vaudano, Anna Elisabetta; Viri, Maurizio; Scheffer, Ingrid E.; May, Patrick; Zara, Federico; Sisodiya, Sanjay M.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

ATP2B2从头变体是可变神经发育障碍的原因，其特征是肌张力障碍，共济失调，智力障碍，行为症状和癫痫发作

GENETICS IN MEDICINE
IF6.2
2023-12-015
OAAI
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa; Zech, Michael
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
GENETICS IN MEDICINE
IF6.2
2023-11-014
OAAI
Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia

研究方向

暂未获取到该数据
A
Annalaura Torella
H 指数:33论文数:171被引数:3,610
G
Giulio Piluso
H 指数:35论文数:140被引数:4,129
M
Marco Savarese
H 指数:31论文数:204被引数:3,267
M
Margherita Mutarelli
H 指数:31论文数:88被引数:2,848
N
Nicola Brunetti‐Pierri
H 指数:59论文数:380被引数:2.4万
M
Marcello Scala
H 指数:30论文数:211被引数:3,919
F
Filippo M. Santorelli
H 指数:75论文数:864被引数:2.2万
F
Federico Zara
H 指数:76论文数:556被引数:2.5万
P
Peter Hackman
H 指数:45论文数:553被引数:7,114
A
Andrea Accogli
H 指数:28论文数:154被引数:2,391