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Paola Giunti

university college london

68H指数
345论文数
1.5W被引数
收录论文 148
发表时间
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From Functional Movement Disorder to PRNP P102L Gerstmann–Sträussler–Scheinker Disease: An MSA-C Mimic从功能性运动障碍到PRNP P102L Gerstmann–Sträussler–Scheinker 病：一种 MSA-C 模拟
errPARKINSONISM & RELATED DISORDERS
IF3.4
err2026-09-10
err0
PREAI
errJacky Ganguly; Martina Marconi; Simon Mead; Paola Giunti
err分享
err收藏
Ataxia patient care pathway and associated healthcare costs in Italy: a cross-sectional survey意大利共济失调患者护理路径及其相关医疗成本：一项横断面调查
errNeurological Sciences
IF2.4
err2026-07-16
err0
errOAAI
errJulie Vallortigara; Julie Greenfield; Barry Hunt; Alessandro Filla; Antonio Federico; Maria Litani; Deborah Hoffman; Steve Morris; Paola Giunti
err分享
err收藏
Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature着色性干皮病中枢神经系统肿瘤：五例报告及文献综述
errMovement Disorders
IF7.6
err2026-05-22
err0
errOAAI
errFarrah S. Bakr MD, PhD; Huseyin Arisoy MD; Alan R. Lehmann PhD; Paola Giunti MD, PhD; Hiva Fassihi MD, PhD
err分享
err收藏
An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK英国弗里德赖希共济失调患者中维生素D缺乏与临床状况的探索
errMovement Disorders Clinical Practice
IF2.7
err2026-03-06
err0
errOAAI
errZofia Fleszar MD; Gilbert Thomas-Black PhD; Hector Garcia-Moreno PhD; Arron Cook MBBS; Paola Giunti PhD
err分享
err收藏
Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary倾向性匹配分析比较奥马波唑醇治疗与弗里德赖希共济失调自然史数据：一份通俗语言摘要
errFuture Neurology
IF0.5
err2025-12-31
err0
PREAI
errLynch, David R.; Goldsberry, Angie; Rummey, Christian; Farmer, Jennifer; Boesch, Sylvia; Delatycki, Martin B.; Giunti, Paola; Hoyle, J. Chad; Mariotti, Caterina; Mathews, Katherine D.; Nachbauer, Wolfgang; Perlman, Susan; Subramony, Sub H.; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin
err分享
err收藏
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiapalindrome-mediated 16p13.3 triplications 导致一种伴有共济失调的可识别的神经退行性疾病
errThe American Journal of Human Genetics
IF0
err2025-12-04
err0
errOAAI
errJames Fasham; Julia Rankin; Rachel Schot; Susan M. White; Katrina M. Bell; Matthew N. Wakeling; Lucy J. Mallin; Alex Shah; Michelle G. de Silva; David I. Francis; Maie Walsh; Emily E. Jones; Kayal Vijayakumar; Katie Johnson; Francis H. Sansbury; Johann te Water Naudé; Paola Giunti; Marios Hadjivassiliou; Andrea H. Nemeth; George K. Tofaris
err分享
err收藏
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort脊髓小脑共济失调3型突变携带者在ESMI队列中的用药模式
errCNS Drugs
IF7.4
err2025-10-17
err0
errOAAI
errPatrick Silva; Marina A. Costa; Laetitia Gaspar; João Durães; Inês Cunha; Joana A Ribeiro; Cristina Januário; Bárbara Oliveiros; Jeannette Hübener-Schmid; Jennifer Faber; Mafalda Raposo; Manuela Lima; Hector Garcia-Moreno; Paola Giunti; Lukas Beichert; Ludger Schöls; Bart P. van de Warrenburg; Jeroen de Vries; Andreas Thieme; Kathrin Reetz; Heike Jacobi; Jon Infante; Thomas Klockgether; Luís Pereira de Almeida; Magda M. Santana
err分享
err收藏
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study对EFACTS研究中弗里德赖希共济失调患者12年内改良版非共济失调体征清单的分析
errMovement Disorders
IF7.6
err2025-10-10
err0
errOAAI
errStella Andrea Lischewski MD; Imis Dogan PhD; Paola Giunti MD; Michael H. Parkinson MD; Caterina Mariotti MD; Alexandra Durr MD; Claire Ewenczyk MD; Sylvia Boesch MD; Wolfgang Nachbauer MD; Thomas Klopstock MD; Claudia Stendel MD; Francisco Javier Rodríguez de Rivera Garrido MD; Ludger Schöls MD; Zofia Fleszar MD; Thomas Klockgether MD; Marcus Grobe-Einsler MD; Ilaria Giordano MD; Myriam Rai PhD; Massimo Pandolfo MD; Heike Jacobi MD; Ralf-Dieter Hilgers PhD; Jörg B. Schulz MD; Kathrin Reetz MD; the EFACTS Study Group
err分享
err收藏
Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3重复序列结构及rs7158733 SNP在脊髓小脑共济失调3型中的作用
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 9836
IF0
err2025-10-10
err0
errOAAI
errSuran Nethisinghe; Hector Garcia-Moreno; Jude Alwan; Robyn Labrum; Paola Giunti
err分享
err收藏
Progress and challenges in sporadic late-onset cerebellar ataxias散发性迟发性小脑共济失调的进展与挑战
errNature Reviews Neurology
IF33.1
err2025-09-22
err0
PREAI
errThomas Wirth; Jennifer Faber; Christel Depienne; Emmanuel Roze; Jérôme Honnorat; Wassilios G. Meissner; Paola Giunti; Christine Tranchant; Thomas Klockgether; Mathieu Anheim
err分享
err收藏
GAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practiceGAD抗体在神经疾病中的研究：对GAD抗体在临床实践中应用价值及治疗意义的批判性评估
errJOURNAL OF NEUROLOGY
IF4.6
err2025-02-22
err0
errOAAI
errBrown, Rachel L.; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Chou, Michael; Fleszar, Zofia; Zandi, Michael S.; Chapman, Miles; Church, Andrew J.; Hart, Melanie; Giunti, Paola; Vincent, Angela
err分享
err收藏
Altered Ca2*responses and antioxidant properties in Friedreich's ataxia-like cerebellar astrocytes
errJOURNAL OF CELL SCIENCE
IF3.6
err2025-01-09
err1
errOAAI
errMarullo, Chiara; Croci, Laura; Giupponi, Iris; Rivoletti, Claudia; Zuffetti, Sofia; Bettegazzi, Barbara; Cremona, Ottavio; Giunti, Paola; Ambrosi, Alessandro; Casoni, Filippo; Consalez, Gian Giacomo; Codazzi, Franca
err分享
err收藏
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's AtaxiaFriedreich共济失调中白细胞端粒长度的异常年龄依赖性行为
errMOVEMENT DISORDERS
IF7.6
err2024-09-05
err0
errOAAI
errScarabino, Daniela; Veneziano, Liana; Nethisinghe, Suran; Mantuano, Elide; Fiore, Alessia; Granata, Giulia; Solanky, Nita; Zanni, Ginevra; Cavalcanti, Francesca; Corbo, Rosa Maria; Giunti, Paola
err分享
err收藏
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome
errNEUROLOGY-CLINICAL PRACTICE
IF3.2
err2024-08-01
err0
PREAI
errRajamani, Geetanjali; Stafki, Seth A.; Daugherty, Audrey L.; Mantyh, William G.; Littel, Hannah R.; Bruels, Christine C.; Pacak, Christina A.; Robbins, Paul D.; Niedernhofer, Laura J.; Abiona, Adesoji; Giunti, Paola; Mohammed, Shehla; Laugel, Vincent; Kang, Peter B.
err分享
err收藏
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
errBRAIN
IF11.7
err2024-06-17
err0
PREAI
errBenkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel
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err收藏
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C
errANTIOXIDANTS
IF6.6
err2024-05-02
err0
errOAAI
errMotamed-Gorji, Nazgol; Khalil, Youssef; Gonzalez-Robles, Cristina; Khan, Shamsher; Mills, Philippa; Garcia-Moreno, Hector; Ging, Heather; Tariq, Ambreen; Clayton, Peter T.; Giunti, Paola
err分享
err收藏
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
errNEUROBIOLOGY OF DISEASE
IF5.6
err2024-04-01
err0
errOAAI
errRaposo, Mafalda; Huebener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schoels, Ludger; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela
err分享
err收藏
The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review新型冠状病毒肺炎大流行对罕见脑部疾病和共济失调，肌张力障碍和PKU的护理连续性的影响。范围综述
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-02-21
err0
errOAAI
errCannizzo, Sara; Quoidbach, Vinciane; Giunti, Paola; Oertel, Wolfgang; Pastores, Gregory; Relja, Maja; Turchetti, Giuseppe
err分享
err收藏
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
errMOVEMENT DISORDERS
IF7.6
err2023-12-23
err9
errOAAI
errIndelicato, Elisabetta; Reetz, Kathrin; Maier, Sarah; Nachbauer, Wolfgang; Amprosi, Matthias; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Garrido, Francisco J. R. de Rivera; Klopstock, Thomas; Schoels, Ludger; Klockgether, Thomas; Buerk, Katrin; Pandolfo, Massimo; Didszun, Claire; Grobe-Einsler, Marcus; Nanetti, Lorenzo; Nenning, Lukas; Kiechl, Stefan; Dichtl, Wolfgang; Ulmer, Hanno; Schulz, Joerg B.; Boesch, Sylvia
err分享
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Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey专业共济失调中心对整个欧洲卫生服务资源利用和成本的影响: 横断面调查
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-12-07
err2
errOAAI
errMorris, Stephen; Vallortigara, Julie; Greenfield, Julie; Hunt, Barry; Hoffman, Deborah; Reinhard, Carola; Graessner, Holm; Federico, Antonio; Quoidbach, Vinciane; Giunti, Paola
err分享
err收藏

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