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F

Filippo M. Santorelli

Department of Developmental Neuroscience

75H指数
859论文数
2.2W被引数
收录论文 296
发表时间
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Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants超越雷特综合征：扩展与致病性MECP2变异相关神经谱系的一个病例系列
errJournal of Neurology
IF4.6
err2026-08-26
err0
PREAI
errCamilla Meossi; Alessandro De Falco; Deianira Rinaldi; Stefano Pagano; Alessandra Tessa; Rosanna Trovato; Laura Pezzoli; Maria Rosaria Iascone; Caterina Ceccarini; Elena Freri; Emanuele Bartolini; Stefano D’Arrigo; Sara Calderoni; Antonio Canosa; Salvatore Gallone; Elvira Verduci; Donatella Milani; Filippo Maria Santorelli
err分享
err收藏
Psychiatric manifestations in Neuronal ceroid lipofuscinoses神经元蜡样脂褐质沉积症的精神症状
errOrphanet Journal of Rare Diseases
IF3.5
err2026-06-15
err0
errOAAI
errStefania Della Vecchia; Alessandro Simonati; Maria Marchese; Stefano Berloffa; Alfried Kohlschütter; Filippo Maria Santorelli
err分享
err收藏
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderASAH2缺乏影响鞘脂稳态和神经运动控制，导致进行性神经功能障碍。
errHuman Genetics and Genomics Advances
IF3.6
err2026-03-10
err0
errOAAI
errMarcello Scala; Ranjan K. Sahu; Mariasavina Severino; Monica Traverso; Michele Iacomino; Marina Pedemonte; Filippo Santorelli; Stefano Tozza; Federico Zara; Chiara Fiorillo; Hyung-lok Chung
err分享
err收藏
Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias探索之翼：利用果蝇解码遗传性痉挛性截瘫和共济失调
errCells
IF5.2
err2026-03-03
err0
errOAAI
errRachele Vivarelli; Chiara Vantaggiato; Maria Teresa Bassi; Filippo Maria Santorelli; Maria Marchese
err分享
err收藏
Purkinje Cells as Gatekeepers of Seizure Susceptibility: Insights From OptogeneticsPurkinje细胞作为癫痫易感性的门控机制：来自光遗传学的见解
errJournal of Neuroscience Research
IF3.4
err2026-02-11
err0
PREAI
errSara Bernardi; Federica Gemignani; Filippo M. Santorelli; Maria Marchese
err分享
err收藏
Hereditary spastic paraplegia: from decades of therapy to future innovations遗传性痉挛性截瘫：从数十年的治疗到未来创新
errTherapeutic Advances in Neurological Disorders
IF4.1
err2026-01-12
err0
errOAAI
errLorenzo Cipriano; Corrado Angelini; Filippo Maria Santorelli
err分享
err收藏
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophyUCHL1基因的一个新变异，支持其与迟发性共济失调伴视神经萎缩的关联性
errNeurological Sciences
IF2.4
err2025-12-17
err0
PREAI
errValeria Gioiosa; Christian Marcotulli; Manon Degoutin; Chloé Angelini; Cyril Goizet; Alessandra Tessa; Filippo Maria Santorelli; Carlo Casali
err分享
err收藏
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular diseaseFDX2基因的一个新型突变，为MEOAL线粒体神经肌肉疾病的发病机制提供了新的见解。
errCell Death & Disease
IF9.6
err2025-12-10
err0
errOAAI
errDavide Doni; Deborah Grifagni; Federica Cavion; Bianca Buchignani; Roberta Battini; Elisa Baschiera; Maria Andrea Desbats; Rosa Pasquariello; Giuseppina Covello; Eva De Pascale; Alice Boarolo; Ilaria Cestonaro; Denis Badocco; Paolo Pastore; Geppo Sartori; Oliver Stehling; Roland Lill; Filippo M. Santorelli; Leonardo Salviati; Simone Ciofi-Baffoni; Paola Costantini
err分享
err收藏
Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study智能手机应用程序远程使用的可行性研究：一项为期8周的PROSPAX长期研究
errJournal of Neurology
IF4.6
err2025-12-04
err0
PREAI
errIlse H. J. Willemse; Sabato Mellone; Carlo Tacconi; Filippo M. Santorelli; Ivana Ricca; Sara Satolli; Stephan Klebe; Nicole Jeschonneck; Winfried Ilg; Rebecca Schüle; Matthis Synofzik; Jorik Nonnekes; Bart P. C. van de Warrenburg
err分享
err收藏
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia常染色体显性遗传痉挛性截瘫家系中一种新型的ALDH18A1错义变异
errJournal of Neurology
IF4.6
err2025-12-04
err0
errOAAI
errFederica Novarella; Alessandra Tessa; Chiara Criscuolo; Gianmaria Senerchia; Valerio Nicolella; Rosanna Trovato; Fabrizia Falco; Sirio Cocozza; Alessandra Scaravilli; Margherita Ruoppolo; Marianna Caterino; Daniela Terracciano; Giuseppe Castaldo; Vincenzo Brescia Morra; Filippo Maria Santorelli; Marcello Moccia
err分享
err收藏
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)血浆神经丝轻链在遗传性痉挛性截瘫痬11型（HSP-SPG11）和15型（HSP-ZFYVE26）中的纵向动力学
errMOVEMENT DISORDERS
IF7.6
err2025-12-01
err0
PREAI
errAgianda, Habibah A. P.; Alecu, Julian E.; Tam, Amy; Kim, Hyo-Min; Rong, Joshua; Battaglia, Nicole; Warren, Kaitlyn; Mannix, Rebekah; Setola, Nunzio; Barghigiani, Melissa; Yoon, Grace; Takiyama, Yoshihisa; Moon, Jangsup; Bernardi, Katerina; Yang, Kathryn; Schierbaum, Luca; Santorelli, Filippo Maria; Ebrahimi-Fakhari, Darius
err分享
err收藏
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases早期发病遗传性痉挛性截瘫痷的运动障碍谱：一项428例病例研究
errMOVEMENT DISORDERS
IF7.6
err2025-12-01
err0
PREAI
errResch, Dario; Alecu, Julian E.; Yang, Kathryn; Quiroz, Vicente; Schierbaum, Luca; Bernardi, Katerina; Zaman, Zainab; Agianda, Habibah A. P.; Rong, Joshua; Battaglia, Nicole; Carty, Siofra; Tam, Amy; Kieslich, Matthias; Santorelli, Filippo Maria; Gonzalez-salazar, Carelis; Franca Junior, Marcondes Cavalcante; Ebrahimi-fakhari, Darius
err分享
err收藏
Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of life神经元蜡样脂褐质沉积症 (NCLs) 的胃肠道症状：一项关于患病率、进展时间和对生活质量影响的观察性研究
errNEUROGENETICS
IF1.2
err2025-12-01
err0
PREAI
errDella Vecchia, Stefania; Simonati, Alessandro; Manca, Maria Laura; Pietrafusa, Nicola; Trivisano, Marina; Calabrese, Costanza; Specchio, Nicola; Santorelli, Filippo Maria
err分享
err收藏
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm儿科迟发性庞贝病：来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-28
err0
errOAAI
errMarco Spada; Serena Gasperini; Massimiliano Filosto; Guja Astrea; Beatrice Bracci; Claudio Bruno; Alberto Burlina; Anna Cavallini; Daniela Concolino; Viola Crescitelli; Adele D’Amico; Federica Deodato; Carlo Dionisi-Vici; Maria Alice Donati; Simona Fecarotta; Rita Fischetto; Agata Fiumara; Francesca Furlan; Vincenza Gragnaniello; Damiano Mala; Monica Marica; Francesca Menni; Veronica Pagliardini; Claudia Panicucci; Giancarlo Parenti; Andrea Pession; Federica Ricci; Valentina Rovelli; Michele Sacchini; Filippo Maria Santorelli; Lucia Santoro; Maurizio Scarpa; Roberta Taurisano; Albina Tummolo; Francesco Porta
err分享
err收藏
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology迟发型多酰基辅酶A脱氢酶缺乏症(MADD)：临床特征、诊断挑战以及氧化应激在病理生理学中的作用
errAntioxidants 2025, Vol. 14, Page 1409
IF6.6
err2025-11-26
err0
errOAAI
errDario Zoppi; Anna Russo; Francesca Vallefuoco; Martina De Maria; Gabriella Esposito; Tiziana Fioretti; Valeria Maiolo; Filippo Maria Santorelli; Rosa Iodice; Stefano Tozza; Raffaele Dubbioso; Fiore Manganelli; Lucia Ruggiero
err分享
err收藏
Developmental and neural toxicity of the dinitroaniline herbicide pendimethalin in zebrafish early-life stages二硝基苯胺类除草剂pendimethalin对斑马鱼早期生命阶段发育和神经毒性的研究
errEmerging Contaminants
IF6.9
err2025-11-12
err0
errOAAI
errRosario Licitra; Sara Bernardi; Rachele Rocchi; Rossana Scarpone; Giampiero Scortichini; Sabrina V.P. Defourny; Filippo M. Santorelli; Carmine Merola; Giulia Caioni; Maria Marchese
err分享
err收藏
A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err1
PREAI
errGiuntini, Martina; Picchi, Lucia; Cafforio, Gianfranco; Trovato, Rosanna; Santorelli, Filippo Maria; Vista, Marco; Orsucci, Daniele
err分享
err收藏
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderKDM6B相关的神经发育障碍的临床与分子谱
errThe American Journal of Human Genetics
IF0
err2025-10-18
err0
PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
err分享
err收藏
Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses更正：奥普仑（open-label）评价口服海藻糖在神经元蜡样脂褐质沉积症患者中的应用
errJournal of Neurology
IF4.6
err2025-10-15
err0
PREAI
errStefania Della Vecchia; Nicola Gammaldi; Ivana Ricca; Serena Mero; Stefano Doccini; Anna Ardissone; Silvia Bagnoli; Roberta Battini; Elisa Colombi; Jacopo Favaro; Roberto Furlan; Lucio Giordano; Assunta Ingannato; Alessandra Mandelli; Francesca Maria Paola Manzoni; Giuseppe Milito; Isabella Moroni; Benedetta Nacmias; Nardo Nardocci; Lucio Parmeggiani; Francesco Pezzini; Nicola Pietrafusa; Stefano Sartori; Nicola Specchio; Marina Trivisano; A.-N. C. L. ETS; Alessandro Simonati; Filippo Maria Santorelli
err分享
err收藏
Fluid Biomarkers in Hereditary Spastic Paraplegia: A Narrative Review and Integrative Framework for Complex Neurodegenerative Mechanisms遗传性痉挛性截瘫中的流体生物标志物：复杂神经退行性机制的一篇叙事性综述和整合框架
errGenes 2025, Vol. 16, Page 1189
IF0
err2025-10-13
err0
errOAAI
errLorenzo Cipriano; Nunzio Setola; Melissa Barghigiani; Filippo Maria Santorelli
err分享
err收藏

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