Filippo M Santorelli

Affiliations
  • Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
ORCID: 0000-0002-1359-9062

Publications (51)

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.

Human mutation
Avec: Daniele Galatolo , Molly E Kuo , Patrick Mullen , Rebecca Meyer-Schuman , Stefano Doccini , Roberta Battini , Maria Lieto , Alessandra Tessa , Alessandro Filla , Christopher Francklyn , Anthony Antonellis ,

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Annals of human genetics
Avec: Fabio Gotta , Merit Lamp , Alessandro Geroldi , Lucia Trevisan , Paola Origone , Giuseppina Fugazza , Sabrina Fabbri , Claudia Nesti , Anna Rubegni , Federica Morani , Filippo Maria Santorelli , Emilia Bellone , Paola Mandich

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.

Cell death discovery
Avec: 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 ,

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Vasiliki Zouvelou , Delia Yubero , Loukia Apostolakopoulou , Eleftheria Kokkinou , Manolis Bilanakis , Zoi Dalivigka , Ioannis Nikas , Elissavet Kollia , Belen Perez-Dueñas , Alfons Macaya , Anna Marcé-Grau , Antonis Voutetakis , Katerina Anagnostopoulou , Kiriaki Kekou , Christalena Sofocleus , Danae Veltra , Xaralabos Kokkinis , Helen Fryssira , Rosa J Torres , Judith Amstrong , Rafael Artuch , Roser Pons

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.

Journal of personalized medicine
Avec: Sara Calderoni , Ivana Ricca , Giulia Balboni , Romina Cagiano , Denise Cassandrini , Stefano Doccini , Angela Cosenza , Deborah Tolomeo , Raffaella Tancredi , Filippo Maria Santorelli , Filippo Muratori

Neuroimaging patterns in paediatric onset hereditary spastic paraplegias.

Journal of the neurological sciences
Avec: Claudia Dosi , Rosa Pasquariello , Chiara Ticci , Guja Astrea , Rosanna Trovato , Anna Rubegni , Alessandra Tessa , Giovanni Cioni , Filippo Maria Santorelli , Roberta Battini

Social Preference Tests in Zebrafish: A Systematic Review.

Frontiers in veterinary science
Avec: Asahi Ogi , Rosario Licitra , Valentina Naef , Maria Marchese , Baldassare Fronte , Angelo Gazzano ,

A new paraplegin mutation in a patient with primary progressive multiple sclerosis.

Multiple sclerosis and related disorders
Avec: Angelo Bellinvia , Luisa Pastò , Claudia Niccolai , Alessandra Tessa , Riccardo Carrai , Cristiana Martinelli , Marco Moretti , Maria Pia Amato , Filippo Maria Santorelli , Sandro Sorbi , Sabrina Matà

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry.

Journal of mass spectrometry : JMS
Avec: Stefan Maeser , Brindusa-Alina Petre , Laura Ion , Stephan Rawer , Alfried Kohlschütter , Alessandro Simonati , Angela Schulz , Michael Przybylski

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain communications
Avec: Darius Ebrahimi-Fakhari , Julian E Alecu , Barbara Brechmann , Marvin Ziegler , Kathrin Eberhardt , Hellen Jumo , Angelica D'Amore , Parham Habibzadeh , Mohammad Ali Faghihi , Jan L De Bleecker , Sandrine Vuillaumier-Barrot , Stéphane Auvin , Sonja Neuser , Bernt Popp , Edward Yang , Lee Barrett , Alexandra K Davies , Afshin Saffari , Jennifer Hirst , Mustafa Sahin

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International journal of molecular sciences
Avec: 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 , Marina A B 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

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Journal of neurology
Avec: 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

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Ilaria Di Donato , Antonio Gallo , Ivana Ricca , Nicola Fini , Gabriella Silvestri , Fiorella Gurrieri , Mario Cirillo , Alfonso Cerase , Gemma Natale , Federica Matrone , Vittorio Riso , Mariarosa Anna Beatrice Melone , Alessandra Tessa , Giovanna De Michele , Antonio Federico , Alessandro Filla , Maria Teresa Dotti , Filippo Maria Santorelli

Identification of a Thyroid Hormone Derivative as a Pleiotropic Agent for the Treatment of Alzheimer's Disease.

Pharmaceuticals (Basel, Switzerland)
Avec: Massimiliano Runfola , Michele Perni , Xiaoting Yang , Maria Marchese , Andrea Bacci , Serena Mero , Beatrice Polini , Grazia Chiellini , Daniela Giuliani , Antonietta Vilella , Martina Bodria , Eleonora Daini , Eleonora Vandini , Simon Rudge , Sheraz Gul , Michale O J Wakelam , Michele Vendruscolo , Simona Rapposelli

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society
Avec: Liedewei Van de Vondel , Jonathan De Winter , Danique Beijer , Giulia Coarelli , Melanie Wayand , Robin Palvadeau , Martje G Pauly , Katrin Klein , Maren Rautenberg , Léna Guillot-Noël , Tine Deconinck , Atay Vural , Sibel Ertan , Okan Dogu , Hilmi Uysal , Vesna Brankovic , Rebecca Herzog , Alexis Brice , Alexandra Durr , Stephan Klebe , Friedrich Stock , Almut Turid Bischoff , Tim W Rattay , María-Jesús Sobrido , Giovanna De Michele , Peter De Jonghe , Thomas Klopstock , Katja Lohmann , Ginevra Zanni , Vincent Timmerman , Tobias B Haack , Stephan Züchner , Auteur inconnu , Rebecca Schüle , Giovanni Stevanin , Matthis Synofzik , A Nazli Basak , Jonathan Baets

Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective.

Journal of personalized medicine
Avec: Anna Maria Chilosi , Irina Podda , Ivana Ricca , Alessandro Comparini , Beatrice Franchi , Simona Fiori , Rosa Pasquariello , Claudia Casalini , Paola Cipriani , Filippo Maria Santorelli

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.

Cells
Avec: 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 ,

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

Journal of the neurological sciences
Avec: D Orsucci , A Tessa , E Caldarazzo Ienco , R Trovato , G Natale , G Bilancieri , M Giuntini , A Napolitano , S Salvetti , M Vista , F M Santorelli

Zebrafish Feed Intake: A Systematic Review for Standardizing Feeding Management in Laboratory Conditions.

Biology
Avec: Rosario Licitra , Baldassare Fronte , Tiziano Verri , Maria Marchese , Chiara Sangiacomo , Filippo Maria Santorelli

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Ettore Cioffi , Valeria Gioiosa , Alessandra Tessa , Antonio Petrucci , Rosanna Trovato , Filippo Maria Santorelli , Carlo Casali

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

Genes
Avec: Bianca Buchignani , Gemma Marinella , Rosa Pasquariello , Giada Sgherri , Silvia Frosini , Filippo Maria Santorelli , Alessandro Orsini , Roberta Battini , Guja Astrea

Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Isabella Di Sarno , Stefano Tozza , Filippo Maria Santorelli , Emanuele Cassano , Gemma Natale , Raffaele Dubbioso , Lucia Ruggiero , Alessandra Tessa , Rosa Iodice , Maria Nolano , Fiore Manganelli

Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.

Neuropediatrics
Avec: Francesca M A Papoff , Guja Astrea , Serena Mero , Laura Chicca , Sara Satolli , Rosa Pasquariello , Roberta Battini , Alessandra Tessa ,

Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.

Frontiers in neuroscience
Avec: Daniele Galatolo , Silvia Rocchiccioli , Nicoletta Di Giorgi , Flavio Dal Canto , Giovanni Signore , Federica Morani , Elisa Ceccherini , Stefano Doccini , Filippo Maria Santorelli

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Movement disorders : official journal of the Movement Disorder Society
Avec: Ceren Tunca , Eylül Ece İşlek Camadan , Natalia Smolina , Robin J Palvadeau , Özgür Öztop Çakmak , Atay Vural , Andreas Traschütz , Bernard Brais , Rebecca Schüle , Matthis Synofzik , A Nazlı Başak

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.

Neurobiology of disease
Avec: Michela Di Nottia , Maria Marchese , Daniela Verrigni , Christian Daniel Mutti , Alessandra Torraco , Romina Oliva , Erika Fernandez-Vizarra , Federica Morani , Giulia Trani , Teresa Rizza , Daniele Ghezzi , Anna Ardissone , Claudia Nesti , Gessica Vasco , Massimo Zeviani , Michal Minczuk , Enrico Bertini , Filippo Maria Santorelli , Rosalba Carrozzo

Expanding the clinical and genetic heterogeneity of SPAX5.

Annals of clinical and translational neurology
Avec: Claudia Dosi , Daniele Galatolo , Anna Rubegni , Stefano Doccini , Rosa Pasquariello , Claudia Nesti , Federico Sicca , Melissa Barghigiani , Roberta Battini , Alessandra Tessa ,

Frontiers in neuroscience
Avec: Valentina Naef , Serena Mero , Gianluca Fichi , Angelica D'Amore , Asahi Ogi , Federica Gemignani , Maria Marchese

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Avec: Eleonora Mauri , Elena Abati , Olimpia Musumeci , Carmelo Rodolico , Maria Grazia D'Angelo , Massimiliano Mirabella , Matteo Lucchini , Luca Bello , Elena Pegoraro , Lorenzo Maggi , Letizia Manneschi , Chiara Gemelli , Marina Grandis , Angela Zuppa , Sara Massucco , Luana Benedetti , Claudia Caponnetto , Angelo Schenone , Alessandro Prelle , Stefano C Previtali , Marina Scarlato , Adele D'Amico , Enrico Bertini , Elena M Pennisi , Laura De Giglio , Marika Pane , Eugenio Mercuri , Tiziana Mongini , Federica Ricci , Angela Berardinelli , Guja Astrea , Sara Lenzi , Roberta Battini , Giulia Ricci , Francesca Torri , Gabriele Siciliano , Alessandra Ariatti , Massimiliano Filosto , Luigia Passamano , Luisa Politano , Marianna Scutifero , Paola Tonin , Barbara Fossati , Chiara Panicucci , Claudio Bruno , Sabrina Ravaglia , Mauro Monforte , Giorgio Tasca , Enzo Ricci , Antonio Petrucci , Lucio Santoro , Lucia Ruggiero , Andrea Barp , Emilio Albamonte , Valeria Sansone , Delia Gagliardi , Gianluca Costamagna , Alessandra Govoni , Francesca Magri , Roberta Brusa , Daniele Velardo , Megi Meneri , Monica Sciacco , Stefania Corti , Nereo Bresolin , Isabella Moroni , Sonia Messina , Antonio Di Muzio , Vincenzo Nigro , Rocco Liguori , Giovanni Antonini , Antonio Toscano , Carlo Minetti , Giacomo Pietro Comi , Auteur inconnu

Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma.

International journal of molecular sciences
Avec: Beatrice Polini , Sara Carpi , Stefano Doccini , Valentina Citi , Alma Martelli , Sara Feola , Filippo Maria Santorelli , Vincenzo Cerullo , Antonella Romanini , Paola Nieri

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

European journal of neurology
Avec: M Lieto , V Riso , D Galatolo , G De Michele , S Rossi , M Barghigiani , S Cocozza , G Pontillo , R Trovato , F Saccà , E Salvatore , A Tessa , A Filla , F M Santorelli , G De Michele , G Silvestri

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Journal of neurology
Avec: Francesco Nicita , Fabrizia Stregapede , Alessandra Tessa , Maria Teresa Bassi , Aleksandra Jezela-Stanek , Guido Primiano , Antonio Pizzuti , Melissa Barghigiani , Marta Nardella , Ginevra Zanni , Serenella Servidei , Guja Astrea , Elena Panzeri , Cristina Maghini , Luciana Losito , Rafal Ploski , Piotr Gasperowicz , Filippo Maria Santorelli , Enrico Bertini , Lorena Travaglini

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Radiology case reports
Avec: Clemente Dato , Guglielmo Capaldo , Chiara Terracciano , Filomena Napolitano , Alessandra D'Amico , Sabina Pappatà , Filippo Maria Santorelli , Giuseppe Di Iorio , Simone Sampaolo , Mariarosa Ab Melone

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

European journal of medical genetics
Avec: Mario Mastrangelo , Stefano Sartori , Alessandro Simonati , Mario Brinciotti , Francesca Moro , Margherita Nosadini , Francesco Pezzini , Stefano Doccini , Filippo Maria Santorelli , Vincenzo Leuzzi

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Journal of clinical medicine
Avec: Jessica Garau , Vanessa Cavallera , Marialuisa Valente , Davide Tonduti , Daisy Sproviero , Susanna Zucca , Domenica Battaglia , Roberta Battini , Enrico Bertini , Silvia Cappanera , Luisa Chiapparini , Camilla Crasà , Giovanni Crichiutti , Elvio Dalla Giustina , Stefano D'Arrigo , Valentina De Giorgis , Micaela De Simone , Jessica Galli , Roberta La Piana , Tullio Messana , Isabella Moroni , Nardo Nardocci , Celeste Panteghini , Cecilia Parazzini , Anna Pichiecchio , Antonella Pini , Federica Ricci , Veronica Saletti , Elisabetta Salvatici , Stefano Sartori , Francesca Tinelli , Carla Uggetti , Edvige Veneselli , Giovanna Zorzi , Barbara Garavaglia , Elisa Fazzi , Simona Orcesi , Cristina Cereda

Clinical and molecular studies in two new cases of ARSACS.

Neurogenetics
Avec: Ivana Ricca , Federica Morani , Giacomo Maria Bacci , Claudia Nesti , Roberto Caputo , Alessandra Tessa , Filippo Maria Santorelli

Oxytocin Receptor Gene Polymorphism in Lactating Dogs.

Animals : an open access journal from MDPI
Avec: Asahi Ogi , Valentina Naef , Filippo Maria Santorelli , Chiara Mariti , Angelo Gazzano

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

Neuropediatrics
Avec: Alfonso Rubino , Giorgia Bruno , Federica Mazio , Maria Fulvia de Leva , Lucia Ruggiero , Filippo Maria Santorelli , Antonio Varone

Implication of folate deficiency in CYP2U1 loss of function.

The Journal of experimental medicine
Avec: 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 Issa , Stephane 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 H El Hachimi , Frédéric Darios , Alexandre Seyer , Anastasia D Gazi , Patrick Giavalisco , Silvina Perin , Jean-Luc Boucher , Laurent Le Corre , Cyril Goizet , Maha S Zaki , Serge Picaud , Arnaud Mourier , Sophie Marie Steculorum , Cyril Mignot , Alexandra Durr , Aleksandra Trifunovic , Giovanni Stevanin

Expansion of the genetic landscape of ERLIN2-related disorders.

Annals of clinical and translational neurology
Avec: Siddharth Srivastava , Angelica D'Amore , Julie S Cohen , Lindsay C Swanson , Ivana Ricca , Antonella Pini , Ali Fatemi , Darius Ebrahimi-Fakhari ,

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology
Avec: Antonella Sferra , Paola Fortugno , Marialetizia Motta , Chiara Aiello , Stefania Petrini , Andrea Ciolfi , Francesca Cipressa , Isabella Moroni , Vincenzo Leuzzi , Luisa Pieroni , Federica Marini , Odile Boespflug Tanguy , Eleonore Eymard-Pierre , Federica Rachele Danti , Claudia Compagnucci , Giovanna Zambruno , Alfredo Brusco , Luisa Chiapparini , Paola Francalanci , Anna Livia Loizzo , Marco Tartaglia , Gianluca Cestra , Enrico Bertini

Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy.

Molecular pharmaceutics
Avec: Melissa Santi , Francesco Finamore , Antonella Cecchettini , Filippo Maria Santorelli , Stefano Doccini , Silvia Rocchiccioli , Giovanni Signore

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

Frontiers in neurology
Avec: Federica Morani , Stefano Doccini , Giovanna Chiorino , Fabiana Fattori , Daniele Galatolo , Elisa Sciarrillo , Federica Gemignani , Stephan Züchner , Enrico Silvio Bertini , Filippo Maria Santorelli

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
Avec: Vittorio Riso , Daniele Galatolo , Melissa Barghigiani , Serena Galosi , Alessandra Tessa , Ivana Ricca , Salvatore Rossi , Caterina Caputi , Ettore Cioffi , Vincenzo Leuzzi , Carlo Casali , Gabriella Silvestri

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Journal of neurology
Avec: V Montano , D Orsucci , V Carelli , C La Morgia , M L Valentino , C Lamperti , S Marchet , O Musumeci , A Toscano , G Primiano , F M Santorelli , C Ticci , M Filosto , A Rubegni , T Mongini , P Tonin , S Servidei , R Ceravolo , G Siciliano , Michelangelo Mancuso

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
Avec: 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 Filosto , 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

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Journal of neurology
Avec: Giovanna De Michele , Daniele Galatolo , Serena Galosi , Andrea Mignarri , Gabriella Silvestri , Carlo Casali , Vincenzo Leuzzi , Ivana Ricca , Melissa Barghigiani , Alessandra Tessa , Ettore Cioffi , Caterina Caputi , Vittorio Riso , Maria Teresa Dotti , Francesco Saccà , Giuseppe De Michele , Sirio Cocozza , Alessandro Filla ,

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Maria Pia Giannoccaro , Eleonora Matteo , Fiorina Bartiromo , Caterina Tonon , Rocco Liguori , Giovanni Rizzo

A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on Neurodevelopment.

Biomedicines
Avec: Rosario Licitra , Maria Marchese , Valentina Naef , Asahi Ogi , Marco Martinelli , Claudia Kiferle , Baldassare Fronte , Filippo Maria Santorelli

Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.

Stem cell research
Avec: Elisa Maria Turco , Angela Maria Giada Giovenale , Giovannina Rotundo , Martina Mazzoni , Paola Zanfardino , Katia Frezza , Isabella Torrente , Rose Mary Carletti , Devid Damiani , Angelo Luigi Vescovi , Vittoria Petruzzella , Jessica Rosati

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report.

Frontiers in neurology
Avec: Giancarlo Todiere , Stefania Della Vecchia , Maria Aurora Morales , Andrea Barison , Ivana Ricca , Alessandra Tessa , Elisa Colombi , Filippo Maria Santorelli

Réseau de co-auteurs

Filippo Maria Santorelli 26 collaborations
Alessandra Tessa 15 collaborations
Stefano Doccini 11 collaborations
Roberta Battini 10 collaborations
Ivana Ricca 9 collaborations
Daniele Galatolo 8 collaborations
Federica Morani 7 collaborations
Guja Astrea 7 collaborations
Maria Marchese 7 collaborations
Anna Rubegni 6 collaborations
Rosa Pasquariello 6 collaborations
Enrico Bertini 6 collaborations
Alessandro Filla 5 collaborations
Claudia Nesti 5 collaborations
Asahi Ogi 5 collaborations
Giovanna De Michele 5 collaborations
Vincenzo Leuzzi 5 collaborations
Carlo Casali 5 collaborations
Melissa Barghigiani 5 collaborations
Ettore Cioffi 5 collaborations
Giovanni Signore 4 collaborations
Silvia Rocchiccioli 4 collaborations
Alessandro Simonati 4 collaborations
Claudia Dosi 4 collaborations
Valentina Naef 4 collaborations
Gabriella Silvestri 4 collaborations
Vittorio Riso 4 collaborations
Serena Mero 4 collaborations
Isabella Moroni 4 collaborations
Francesco Pezzini 3 collaborations
Chiara Ticci 3 collaborations
Rosanna Trovato 3 collaborations
Rosario Licitra 3 collaborations
Baldassare Fronte 3 collaborations
Angelica D'Amore 3 collaborations
Olimpia Musumeci 3 collaborations
Caterina Caputi 3 collaborations
Maria Teresa Dotti 3 collaborations
Chiara Fiorillo 3 collaborations
Serena Galosi 3 collaborations
Andrea Mignarri 3 collaborations
Gemma Natale 3 collaborations
Elena Pegoraro 3 collaborations
Antonio Petrucci 3 collaborations
Antonella Pini 3 collaborations
Guido Primiano 3 collaborations
Serenella Servidei 3 collaborations
F M Santorelli 3 collaborations
Lucia Ruggiero 3 collaborations
Maria Lieto 2 collaborations
Rabah Soliymani 2 collaborations
Katja M Kanninen 2 collaborations
Maciej M Lalowski 2 collaborations
Deborah Tolomeo 2 collaborations
Angelo Gazzano 2 collaborations
Darius Ebrahimi-Fakhari 2 collaborations
Antonella Antenora 2 collaborations
Giuseppe De Michele 2 collaborations
Salvatore Rossi 2 collaborations
Francesca Tinelli 2 collaborations
Stefania Della Vecchia 2 collaborations
Maria Teresa Bassi 2 collaborations
Elena Panzeri 2 collaborations
Elena Procopio 2 collaborations
Beatrice Polini 2 collaborations
Giulia Coarelli 2 collaborations
Atay Vural 2 collaborations
Alexandra Durr 2 collaborations
Ginevra Zanni 2 collaborations
Stephan Züchner 2 collaborations
None None 2 collaborations
Rebecca Schüle 2 collaborations
Giovanni Stevanin 2 collaborations
Matthis Synofzik 2 collaborations
Melissa Santi 2 collaborations
D Orsucci 2 collaborations
A Tessa 2 collaborations
R Trovato 2 collaborations
Anna Ardissone 2 collaborations
Federica Gemignani 2 collaborations
Luca Bello 2 collaborations
Federica Ricci 2 collaborations
Gabriele Siciliano 2 collaborations
Massimiliano Filosto 2 collaborations
Paola Tonin 2 collaborations
Claudio Bruno 2 collaborations
Monica Sciacco 2 collaborations
Rocco Liguori 2 collaborations
Antonio Toscano 2 collaborations
Carlo Minetti 2 collaborations
G De Michele 2 collaborations
Stefano Sartori 2 collaborations
Luisa Chiapparini 2 collaborations
Michelangelo Mancuso 2 collaborations
Molly E Kuo 1 collaboration
Patrick Mullen 1 collaboration
Rebecca Meyer-Schuman 1 collaboration
Christopher Francklyn 1 collaboration
Anthony Antonellis 1 collaboration
Fabio Gotta 1 collaboration
Merit Lamp 1 collaboration
Alessandro Geroldi 1 collaboration
Lucia Trevisan 1 collaboration
Paola Origone 1 collaboration
Giuseppina Fugazza 1 collaboration
Sabrina Fabbri 1 collaboration
Emilia Bellone 1 collaboration
Paola Mandich 1 collaboration
Giulio Calza 1 collaboration
Mikko T Huuskonen 1 collaboration
Marc H Baumann 1 collaboration
Vasiliki Zouvelou 1 collaboration
Delia Yubero 1 collaboration
Loukia Apostolakopoulou 1 collaboration
Eleftheria Kokkinou 1 collaboration
Manolis Bilanakis 1 collaboration
Zoi Dalivigka 1 collaboration
Ioannis Nikas 1 collaboration
Elissavet Kollia 1 collaboration
Belen Perez-Dueñas 1 collaboration
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