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F

Filippo M. Santorelli

Department of Developmental Neuroscience

75H-index
859Paper Count
2.2WCitation Count
Published Papers 296
Publication Date
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Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants
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
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Psychiatric manifestations in Neuronal ceroid lipofuscinoses
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
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errSave
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder
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
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errSave
Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias
errCells
IF5.2
err2026-03-03
err0
errOAAI
errRachele Vivarelli; Chiara Vantaggiato; Maria Teresa Bassi; Filippo Maria Santorelli; Maria Marchese
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errSave
Purkinje Cells as Gatekeepers of Seizure Susceptibility: Insights From Optogenetics
errJournal of Neuroscience Research
IF3.4
err2026-02-11
err0
PREAI
errSara Bernardi; Federica Gemignani; Filippo M. Santorelli; Maria Marchese
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errSave
Hereditary spastic paraplegia: from decades of therapy to future innovations
errTherapeutic Advances in Neurological Disorders
IF4.1
err2026-01-12
err0
errOAAI
errLorenzo Cipriano; Corrado Angelini; Filippo Maria Santorelli
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errSave
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy
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
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A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
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
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errSave
Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study
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
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Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia
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
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Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)
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
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Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases
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
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errSave
Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of life
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
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Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm
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
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errSave
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology
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
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Developmental and neural toxicity of the dinitroaniline herbicide pendimethalin in zebrafish early-life stages
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
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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
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errSave
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
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
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Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
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
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Fluid Biomarkers in Hereditary Spastic Paraplegia: A Narrative Review and Integrative Framework for Complex Neurodegenerative Mechanisms
errGenes 2025, Vol. 16, Page 1189
IF0
err2025-10-13
err0
errOAAI
errLorenzo Cipriano; Nunzio Setola; Melissa Barghigiani; Filippo Maria Santorelli
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errSave

Research Directions

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Co-authors
Cooperation Journals
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Stephen W. Scherer
H-index: 161 · Papers: 1.1K
A
Alexis Brice
H-index: 153 · Papers: 1.2K
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Joseph D. Buxbaum
H-index: 140 · Papers: 790
H
Henry Houlden
H-index: 120 · Papers: 1.5K
A
Alexandra Dürr
H-index: 119 · Papers: 855
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