Filippo Maria Santorelli (Filippo M M Santorelli, Filippo M Santorelli, F M Santorelli)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 79

Top Venues

Genes

International journal of molecular sciences

Annals of clinical and translational neurology

Journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 : A New Case Report and Review of the Literature. Genes 15 (5) (2024)
Sara Carpi, Beatrice Polini, Dario Nieri, Stefano Doccini, Maria Conti, Erica Bazzan, Marta Pagnini, Filippo Maria Santorelli, Marco Cecchini, Paola Nieri, Alessandro Celi, Tommaso Neri
Extracellular Vesicles Induce Nuclear Factor-κB Activation and Interleukin-8 Synthesis through miRNA-191-5p Contributing to Inflammatory Processes: Potential Implications in the Pathogenesis of Chronic Obstructive Pulmonary Disease. Biomolecules 14 (8) (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology 147 (5) (2024)
Sara Carpi, Beatrice Polini, Dario Nieri, Stefano Doccini, Maria Conti, Erica Bazzan, Marta Pagnini, Filippo Maria Santorelli, Marco Cecchini, Paola Nieri, Alessandro Celi, Tommaso Neri
Extracellular Vesicles Induce Nuclear Factor-κB Activation and Interleukin-8 Synthesis through miRNA-191-5p Contributing to Inflammatory Processes: Potential Implications in the Pathogenesis of Chronic Obstructive Pulmonary Disease. Biomolecules 14 (8) (2024)
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum. Annals of clinical and translational neurology 11 (7) (2024)
Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Lorenzo Ugga, Mirco Cosottini, Ivana Ricca, Benjamin Bender, Andreas Traschütz, Ayse Nazli Basak, Atay Vural, Bart P van de Warrenburg, Alexandra Durr, Roberta La Piana, Dagmar Timmann, null null, Rebecca Schüle, Matthis Synofzik, Filippo Maria Santorelli, Sirio Cocozza
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study. Movement disorders : official journal of the Movement Disorder Society (2024)
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum. Annals of clinical and translational neurology (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology 147 (5) (2024)
Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 : A New Case Report and Review of the Literature. Genes 15 (5) (2024)
Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Lorenzo Ugga, Mirco Cosottini, Ivana Ricca, Benjamin Bender, Andreas Traschütz, Ayse Nazli Basak, Atay Vural, Bart P van de Warrenburg, Alexandra Durr, Roberta La Piana, Dagmar Timmann, null null, Rebecca Schüle, Matthis Synofzik, Filippo Maria Santorelli, Sirio Cocozza
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study. Movement disorders : official journal of the Movement Disorder Society 39 (8) (2024)
Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 : A New Case Report and Review of the Literature. Genes 15 (5) (2024)
Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo Maria Santorelli
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. Journal of neurology 271 (8) (2024)
Paola Zanfardino, Alessandro Amati, Stefano Doccini, Sharon N Cox, Apollonia Tullo, Giovanna Longo, Annamaria D'Erchia, Ernesto Picardi, Claudia Nesti, Filippo Maria Santorelli, Vittoria Petruzzella
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts. Human molecular genetics (2024)
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum. Annals of clinical and translational neurology 11 (7) (2024)
Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo Maria Santorelli
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. Journal of neurology 271 (8) (2024)
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum. Annals of clinical and translational neurology 11 (7) (2024)
Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo Maria Santorelli
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. Journal of neurology (2024)
Paola Zanfardino, Alessandro Amati, Stefano Doccini, Sharon N Cox, Apollonia Tullo, Giovanna Longo, Annamaria D'Erchia, Ernesto Picardi, Claudia Nesti, Filippo Maria Santorelli, Vittoria Petruzzella
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts. Human molecular genetics 33 (9) (2024)
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum. Annals of clinical and translational neurology 11 (7) (2024)
Chenelle A Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D Moira Glerum, Claudia Nesti
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae . International journal of molecular sciences 24 (23) (2023)
Claudia Nesti, Chiara Ticci, Anna Rubegni, Stefano Doccini, Giusi Scaturro, Annalisa Vetro, Renzo Guerrini, Filippo Maria Santorelli, Elena Procopio
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. Journal of neurology (2023)
Rosario Licitra, Valentina Naef, Maria Marchese, Devid Damiani, Asahi Ogi, Stefano Doccini, Baldassare Fronte, Jingyu Yan, Filippo Maria Santorelli
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression. International journal of molecular sciences 24 (6) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo Maria Santorelli, Gabriella Silvestri, Alessandra Tessa
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice. Neurogenetics (2023)
N Gammaldi, S Doccini, S Bernardi, M Marchese, M Cecchini, R Ceravolo, S Rapposelli, G M Ratto, S Rocchiccioli, F Pezzini, Filippo Maria Santorelli, null null
Dem-Aging: autophagy-related pathologies and the "two faces of dementia". Neurogenetics 25 (1) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Maria Caputo, Ilaria Martinelli, Nicola Fini, Giulia Gianferrari, Cecilia Simonini, Rosanna Trovato, Filippo Maria Santorelli, Alessandra Tessa, Jessica Mandrioli, Elisabetta Zucchi
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report. International journal of molecular sciences 24 (15) (2023)
Luisa Politano, Filippo Maria Santorelli
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. Genes 14 (4) (2023)
Rosario Licitra, Valentina Naef, Maria Marchese, Devid Damiani, Asahi Ogi, Stefano Doccini, Baldassare Fronte, Jingyu Yan, Filippo Maria Santorelli
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression. International journal of molecular sciences 24 (6) (2023)
N Gammaldi, S Doccini, S Bernardi, M Marchese, M Cecchini, R Ceravolo, S Rapposelli, G M Ratto, S Rocchiccioli, F Pezzini, Filippo Maria Santorelli, null null
Dem-Aging: autophagy-related pathologies and the "two faces of dementia". Neurogenetics (2023)
Rosario Licitra, Valentina Naef, Maria Marchese, Devid Damiani, Asahi Ogi, Stefano Doccini, Baldassare Fronte, Jingyu Yan, Filippo Maria Santorelli
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression. International journal of molecular sciences 24 (6) (2023)
Luisa Politano, Filippo Maria Santorelli
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. Genes 14 (4) (2023)
Filippo Maria Santorelli, Hayley S McLoughlin, Justin M Wolter, Daniele Galatolo, Matthis Synofzik, David Mengel, Puneet Opal, null null
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers. Cerebellum (London, England) (2023)
N Gammaldi, S Doccini, S Bernardi, M Marchese, M Cecchini, R Ceravolo, S Rapposelli, G M Ratto, S Rocchiccioli, F Pezzini, Filippo Maria Santorelli, null null
Dem-Aging: autophagy-related pathologies and the "two faces of dementia". Neurogenetics 25 (1) (2023)
Luisa Politano, Filippo Maria Santorelli
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. Genes 14 (4) (2023)
Luisa Politano, Filippo Maria Santorelli
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. Genes 14 (4) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Ciof, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. Journal of neurology (2023)
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo Maria Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, null null, Matthis Synofzik
Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients. Annals of neurology (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Stefania Della Vecchia, Asahi Ogi, Rosario Licitra, Francesca Abramo, Filippo Maria Santorelli, Serena Mero, Silvia Landi, Roberta Battini, Federico Sicca, Gian-Michele Ratto, Filippo Maria Santorelli, Maria Marchese
Trehalose Treatment in Zebrafish Model of Lafora Disease. International journal of molecular sciences 23 (12) (2022)
Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M Kanninen, Alessandro Simonati, Maciej M Lalowski, Filippo Maria Santorelli
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease. Cells 11 (11) (2022)
Federica Morani, Stefano Doccini, Daniele Galatolo, Francesco Pezzini, Rabah Soliymani, Alessandro Simonati, Maciej M Lalowski, Federica Gemignani, Filippo Maria Santorelli
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model. Biomolecules 12 (8) (2022)
Jacopo Baldacci, Marco Calderisi, Chiara Fiorillo, Filippo Maria Santorelli, Anna Rubegni
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders. Healthcare (Basel, Switzerland) 10 (3) (2022)
Rosario Licitra, Maria Marchese, Valentina Naef, Asahi Ogi, Marco Martinelli, Claudia Kiferle, Baldassare Fronte, Filippo Maria Santorelli
A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on Neurodevelopment. Biomedicines 10 (8) (2022)
Stefania Della Vecchia, Maria Marchese, Filippo Maria Santorelli
Glial Contributions to Lafora Disease: A Systematic Review. Biomedicines 10 (12) (2022)
Stefania Della Vecchia, Maria Marchese, Filippo Maria Santorelli
Glial Contributions to Lafora Disease: A Systematic Review. Biomedicines 10 (12) (2022)
Serena Mero, Leonardo Salviati, Vincenzo Leuzzi, Anna Rubegni, Cristina Calderan, Francesca Nardecchia, Daniele Galatolo, Maria Andrea Desbats, Valentina Naef, Federica Gemignani, Maria Novelli, Alessandra Tessa, Roberta Battini, Filippo Maria Santorelli, Maria Marchese
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts. Journal of neurology 268 (9) (2021)
Valentina Naef, Maria Marchese, Asahi Ogi, Gianluca Fichi, Daniele Galatolo, Rosario Licitra, Stefano Doccini, Tiziano Verri, Francesco Argenton, Federica Morani, Filippo Maria Santorelli
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish. International journal of molecular sciences 22 (16) (2021)
Rosario Licitra, Maria Marchese, Letizia Brogi, Baldassare Fronte, Letizia Pitto, Filippo Maria Santorelli
Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid. Nutrients 13 (3) (2021)
Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Mirabella, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases. Journal of clinical medicine 10 (10) (2021)
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Cioffi, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. Journal of neurology (2021)
Asahi Ogi, Valentina Naef, Filippo Maria Santorelli, Chiara Mariti, Angelo Gazzano
Oxytocin Receptor Gene Polymorphism in Lactating Dogs. Animals : an open access journal from MDPI 11 (11) (2021)
Stefania Della Vecchia, Maria Marchese, Filippo Maria Santorelli, Federico Sicca
Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review. Cells 10 (10) (2021)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, Serena Galosi, Alessandra Tessa, Ivana Ricca, Salvatore Rossi, Caterina Caputi, Ettore Cioffi, Vincenzo Leuzzi, Carlo Casali, Filippo Maria Santorelli, Gabriella Silvestri
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21. European journal of neurology 28 (8) (2021)
Deborah Tolomeo, Anna Rubegni, Claudia Nesti, Melissa Barghigiani, Roberta Battini, Francesca D'Amore, Stefano Doccini, Maria Alice Donati, Daniele Galatolo, Sabrina Giglio, Silvia Guarducci, Marilena Pantaleo, Rosa Pasquariello, Elena Procopio, Francesca Pochiero, Alessandra Tessa, Filippo Maria Santorelli
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. Journal of medical genetics 58 (8) (2021)
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Cioffi, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. Journal of neurology (2021)
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
NGS in Hereditary Ataxia: When Rare Becomes Frequent. International journal of molecular sciences 22 (16) (2021)
Chiara Ticci, Claudia Nesti, Anna Rubegni, Stefano Doccini, Jacopo Baldacci, Flavio Dal Canto, Luca Ragni, Duccio M Cordelli, Maria Alice Donati, Filippo Maria Santorelli
Bi-allelic variants in MDH2: Expanding the clinical phenotype. Clinical genetics (2021)
Silvia Magno, Giovanni Ceccarini, Andrea Barison, Iacopo Fabiani, Alessandro Giacomina, Donatella Gilio, Caterina Pelosini, Anna Rubegni, Michele Emdin, Gian Luca Gatti, Filippo Maria Santorelli, Maria Rita Sessa, Ferruccio Santini
Partial Lipodystrophy and LMNA p.R545H Variant. Journal of clinical medicine 10 (5) (2021)
Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Silvio Peluso, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. Journal of clinical medicine 10 (15) (2021)
Vittorio Riso, Salvatore Rossi, Tommaso Filippo Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo Maria Santorelli, Gabriella Silvestri
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain sciences 11 (2) (2021)
Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo Maria Santorelli, Vittoria Petruzzella
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction. BMC medical genomics 14 (1) (2021)
Olga Cozzolino, Federico Sicca, Emanuele Paoli, Francesco Trovato, Filippo Maria Santorelli, Gian Michele Ratto, Maria Marchese
Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging. Cells 9 (3) (2020)
Stefano Doccini, Federica Morani, Claudia Nesti, Francesco Pezzini, Giulio Calza, Rabah Soliymani, Giovanni Signore, Silvia Rocchiccioli, Katja M Kanninen, Mikko T Huuskonen, Marc H Baumann, Alessandro Simonati, Maciej M Lalowski, Filippo Maria Santorelli
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction. Cell death discovery 6 (2020)
Angelica D'Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi-Fakhari, Filippo Maria Santorelli
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Annals of clinical and translational neurology 7 (4) (2020)
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter de Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo Maria Santorelli, Mathieu Anheim, Renato P Munhoz, Tobias Haack, Felix Distelmaier, David J Pagliarini, Hélène Puccio, Matthis Synofzik
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Annals of neurology 88 (2) (2020)
Chiara Ticci, Federico Sicca, Anna Ardissone, Enrico Bertini, Valerio Carelli, Daria Diodato, Lidia Di Vito, Massimiliano Filosto, Chiara La Morgia, Costanza Lamperti, Diego Martinelli, Isabella Moroni, Olimpia Musumeci, Daniele Orsucci, Elia Pancheri, Lorenzo Peverelli, Guido Primiano, Anna Rubegni, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Paola Tonin, Antonio Toscano, Michelangelo Mancuso, Filippo Maria Santorelli
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey. Neurogenetics 21 (2) (2020)
Beatrice Polini, Sara Carpi, Stefano Doccini, Valentina Citi, Alma Martelli, Sara Feola, Filippo Maria Santorelli, Vincenzo Cerullo, Antonella Romanini, Paola Nieri
Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma. International journal of molecular sciences 21 (17) (2020)
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo Maria Santorelli
Expanding the clinical and genetic heterogeneity of SPAX5. Annals of clinical and translational neurology 7 (4) (2020)
Lucia Ruggiero, Aniello Iovino, Raffaele Dubbioso, Sirio Cocozza, Rosanna Trovato, Francesco Aruta, Giuseppe Pontillo, Melissa Barghigiani, Arturo Brunetti, Filippo Maria Santorelli, Fiore Manganelli, Rosa Iodice
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations. Annals of clinical and translational neurology 7 (11) (2020)
Daniele Galatolo, Molly E Kuo, Patrick Mullen, Rebecca Meyer-Schuman, Stefano Doccini, Roberta Battini, Maria Lieto, Alessandra Tessa, Alessandro Filla, Christopher Francklyn, Anthony Antonellis, Filippo Maria Santorelli
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Human mutation 41 (7) (2020)
Siddharth Srivastava, Angelica D'Amore, Julie S Cohen, Lindsay C Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi-Fakhari, Filippo Maria Santorelli
Expansion of the genetic landscape of ERLIN2-related disorders. Annals of clinical and translational neurology 7 (4) (2020)
Ivana Ricca, Alessandra Tessa, Rosanna Trovato, Giacomo Maria Bacci, Filippo Maria Santorelli
Docosahexaenoic acid in ARSACS: observations in two patients. BMC neurology 20 (1) (2020)
Simona Pellacani, Claudia Dosi, Giulia Valvo, Francesca Moro, Serena Mero, Federico Sicca, Filippo Maria Santorelli
Customized multigene panels in epilepsy: the best things come in small packages. Neurogenetics 21 (1) (2019)
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, Giuseppe Pontillo, R Trovato, Francesco Saccà, E Salvatore, A Tessa, A Filla, Filippo Maria Santorelli, G De Michele, Gabriella Silvestri
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. European journal of neurology 27 (3) (2019)
Gianluca Fichi, Valentina Naef, Amilcare Barca, Giovanna Longo, Baldassare Fronte, Tiziano Verri, Filippo Maria Santorelli, Maria Marchese, Vittoria Petruzzella
Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System. International journal of molecular sciences 20 (10) (2019)
Claudia Nesti, Anna Rubegni, Deborah Tolomeo, Jacopo Baldacci, Denise Cassandrini, Francesca D'Amore, Filippo Maria Santorelli
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 40 (8) (2019)

Filippo Maria Santorelli.css-eqlu8i{font-size:small;padding-left:4px;} (Filippo M M Santorelli, Filippo M Santorelli, F M Santorelli)

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Filippo Maria Santorelli (Filippo M M Santorelli, Filippo M Santorelli, F M Santorelli)