Publications by authors named "Alessandro Filla"

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The organizational dimension in rare and complex diseases care management: an application of RarERN Path methodology in ataxias, dystonia and phenylketonuria.
Sara Cannizzo, Vinciane Quoidbach, Leopoldo Trieste, Monika Benson, Antonio Federico, Alessandro Filla

BMC Health Serv Res· June 2025

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Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies.
Alessandro Salvalaggio, Mario Cacciavillani, Benedetta Tierro, Daniele Coraci, Riccardo Currò, Alessandro Filla

J Peripher Nerv Syst· December 2024

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Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Alessandro Filla

J Neurol· December 2024

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Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Alessandro Filla

J Neurol· August 2024

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SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.
Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Alessandro Filla

Ann Clin Transl Neurol· July 2024

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Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
Giovanna De Michele, Luigi Maione, Sirio Cocozza, Mario Tranfa, Chiara Pane, Alessandro Filla

Cerebellum· April 2024

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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Annalaura Torella, Ivana Ricca, Giulio Piluso, Daniele Galatolo, Giuseppe De Michele, Alessandro Filla

J Neurol· October 2023

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Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Alessandro Filla

Neurogenetics· July 2023

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Alessandro Filla

Am J Hum Genet· July 2023

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Genome-wide association study identifies a new susceptibility locus in for Multiple System Atrophy.
Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Alessandro Filla

medRxiv· May 2023

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Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Demet Oender, Jennifer Faber, Carlo Wilke, Tamara Schaprian, Asadeh Lakghomi, Alessandro Filla

Mov Disord· April 2023

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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Alessandro Filla

J Neurol· April 2023

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Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
Melissa Barghigiani, Giovanna De Michele, Alessandra Tessa, Tommasina Fico, Gemma Natale, Alessandro Filla

J Neurol· October 2022

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How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
Michelangelo Mancuso, Henry Houlden, Maria Judit Molnar, Alessandro Filla, Marianthi Breza

Eur J Neurol· July 2022

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Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.
Carlo Wilke, David Mengel, Ludger Schöls, Holger Hengel, Maria Rakowicz, Alessandro Filla

Neurology· May 2022

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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Alessandro Filla

Neurol Genet· April 2022

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Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia.
Chiara Pane, Andrea Salzano, Assunta Trinchillo, Claudia Del Prete, Carlo Casali, Alessandro Filla

Eur J Prev Cardiol· March 2022

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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Giovanna De Michele, Daniele Galatolo, Serena Galosi, Andrea Mignarri, Gabriella Silvestri, Alessandro Filla

J Neurol· March 2022

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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Alessandro Filla

Neurol Sci· February 2022

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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Alessandro Filla

J Neurol· January 2022

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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Alessandro Filla

J Neurol· January 2022

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Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Alessandro Filla

Neurol Genet· December 2021

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Variants in cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Laura C Bott, Mitra Forouhan, Maria Lieto, Ambre J Sala, Ruth Ellerington, Alessandro Filla

Brain Commun· October 2021

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NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Alessandro Filla

Int J Mol Sci· August 2021

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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Alessandro Filla

Am J Hum Genet· April 2021

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