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Vincenzo Bonifati

university medical center

72H指数
297论文数
2.5W被引数
收录论文 89
发表时间
Quantitative biochemical profiling of GCase activity and α-synuclein proteoforms in post-mortem human brains from GBA-related and idiopathic Parkinson’s disease定量生化分析GBA相关性和特发性帕金森病患者死后人脑中GCase活性和α-突触核蛋白蛋白型
err2026-08-05
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errMartino L. Morella; Martha Teneketzi; Federico Ferraro; Tim E. Moors; Walter A. Boiten; John J. P. Breve; Angela M. T. Ingrassia; Hanneke Geut; Lasse Pihlstrøm; Vinod Udayar; Vincenzo Bonifati; Wilma D. J. van de Berg
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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱
err2026-04-15
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errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation
err2024-06-01
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PREAI
errSalomao, Rubens Paulo Araujo; Filho, Flavio Moura Rezende; Borges, Vanderci; Kurian, Manju A.; Ferraz, Henrique Ballalai; Breedveld, Guido J.; Bonifati, Vincenzo; Barsottini, Orlando G.; Pedroso, Jose Luiz
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Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases
err2024-04-06
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errMoors, Tim E.; Morella, Martino L.; Bertran-Cobo, Cesc; Geut, Hanneke; Udayar, Vinod; Timmermans-Huisman, Evelien; Ingrassia, Angela M. T.; Breve, John J. P.; Bol, John G. J. M.; Bonifati, Vincenzo; Jagasia, Ravi; van de Berg, Wilma D. J.
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LRP10 and α-synuclein transmission in Lewy body diseasesLRP10和 α-突触核蛋白在Lewy体疾病中的传递
err2024-02-05
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errCarreras Mascaro, Ana; Grochowska, Martyna M.; Boumeester, Valerie; Dits, Natasja F. J.; Bilgic, Ece Naz; Breedveld, Guido J.; Vergouw, Leonie; de Jong, Frank Jan; van Royen, Martin E.; Bonifati, Vincenzo; Mandemakers, Wim
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Genetic Testing in Parkinson's Disease帕金森病的基因检测
err2023-06-27
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errPal, Gian; Cook, Lola; Schulze, Jeanine; Verbrugge, Jennifer; Alcalay, Roy N.; Merello, Marcelo; Sue, Carolyn M.; Bardien, Soraya; Bonifati, Vincenzo; Chung, Sun Ju; Foroud, Tatiana; Gatto, Emilia; Hall, Anne; Hattori, Nobutaka; Lynch, Tim; Marder, Karen; Mascalzoni, Deborah; Novakovic, Ivana; Thaler, Avner; Raymond, Deborah; Salari, Mehri; Shalash, Ali; Suchowersky, Oksana; Mencacci, Niccolo E.; Simuni, Tanya; Saunders-Pullman, Rachel; Klein, Christine
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deCLUTTER2+-a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes
err2023-06-23
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errGrochowska, Martyna M.; Ferraro, Federico; Mascaro, Ana Carreras; Natale, Domenico; Winkelaar, Amber; Boumeester, Valerie; Breedveld, Guido J.; Bonifati, Vincenzo; Mandemakers, Wim
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International Genetic Testing and Counseling Practices for Parkinson's Disease帕金森病的国际基因检测和咨询实践
err2023-06-13
err7
PREAI
errSaunders-Pullman, Rachel; Raymond, Deborah; Ortega, Roberto A.; Shalash, Ali; Gatto, Emilia; Salari, Mehri; Markgraf, Maggie; Alcalay, Roy N.; Mascalzoni, Deborah; Mencacci, Niccolo E.; Bonifati, Vincenzo; Merello, Marcelo; Chung, Sun Ju; Novakovic, Ivana; Bardien, Soraya; Pal, Gian; Hall, Anne; Hattori, Nobutaka; Lynch, Timothy; Thaler, Avner; Sue, Carolyn M.; Foroud, Tatiana; Verbrugge, Jennifer; Schulze, Jeanine; Cook, Lola; Marder, Karen; Suchowersky, Oksana; Klein, Christine; Simuni, Tatyana
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Defining the Riddle in Order to Solve It: There Is More Than One Parkinson's Disease
err2023-05-08
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errOuteiro, Tiago F.; Alcalay, Roy N.; Antonini, Angelo; Attems, Johannes; Bonifati, Vincenzo; Cardoso, Francisco; Chesselet, Marie-Francoise; Hardy, John; Madeo, Graziella; McKeith, Ian; Mollenhauer, Brit; Moore, Darren J.; Rascol, Olivier; Schlossmacher, Michael G.; Soreq, Hermona; Stefanis, Leonidas; Ferreira, Joaquim J.
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Saying goodbye
err2023-03-01
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PREAI
errBonifati, Vincenzo
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Goodbyes, thank you, and cutting cake ...
err2023-01-01
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PREAI
errFernandez, Hubert H.; Bonifati, Vincenzo
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Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case
err2022-10-01
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PREAI
errFevga, Christina; Ferraro, Federico; Breedveld, Guido J.; Sankhla, Charulata Savant; Bonifati, Vincenzo
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Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?多系统萎缩的神经变性家族史: 是否提示易感性?
err2022-08-27
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errLeys, Fabian; Eschlbock, Sabine; Campese, Nicole; Mahlknecht, Philipp; Peball, Marina; Goebel, Georg; Sidoroff, Victoria; Granata, Roberta; Bonifati, Vincenzo; Zschocke, Johannes; Kiechl, Stefan; Poewe, Werner; Seppi, Klaus; Wenning, Gregor K.; Fanciulli, Alessandra
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Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family
err2022-07-15
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errAgarwal, Pankaj A.; Kuipers, Demy J. S.; Fevga, Christina; Agrawal, Shruti; Ravat, Sangeeta H.; Breedveld, Guido J.; Sethi, Kapil; Bonifati, Vincenzo
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A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia病理证实的多系统萎缩和帕金森病伴痴呆的多重系谱
err2022-07-04
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errFanciulli, Alessandra; Leys, Fabian; Lehner, Fabienne; Sidoroff, Victoria; Ruf, Viktoria C.; Raccagni, Cecilia; Mahlknecht, Philipp; Kuipers, Demy J. S.; van IJcken, Wilfred F. J.; Stockner, Heike; Musacchio, Thomas; Volkmann, Jens; Monoranu, Camelia Maria; Stankovic, Iva; Breedveld, Guido; Ferraro, Federico; Fevga, Christina; Windl, Otto; Herms, Jochen; Kiechl, Stefan; Poewe, Werner; Seppi, Klaus; Stefanova, Nadia; Scholz, Sonja W.; Bonifati, Vincenzo; Wenning, Gregor K.
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AOPEP Homozygous Loss-of-Function Variant in an Indian Patient With Early-Onset Generalized Dystonia
err2022-01-24
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errFevga, Christina; Ferraro, Federico; Breedveld, Guido J.; Savant Sankhla, Charulata; Bonifati, Vincenzo
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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaWARS2突变引起多巴反应性早发性帕金森病和进行性肌阵挛性共济失调
err2022-01-01
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errSkorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J. S.; Boumeester, Valerie; Havrankova, Petra; Tijssen, M. A. J.; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael; Jech, Robert
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Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to ATP13A2 Mutation
err2021-10-19
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PREAI
errChien, Hsin Fen; Rodriguez, Roberta Diehl; Bonifati, Vincenzo; Nitrini, Ricardo; Pasqualucci, Carlos Augusto; Gelpi, Ellen; Barbosa, Egberto Reis
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