alessandro filla
Università degli Studi di Napoli Federico II
H-index: 71
Europe-Italy
Top articles of alessandro filla
Title | Journal | Author(s) | Publication Date |
---|---|---|---|
Spectral Domain and Angiography Optical Coherence Tomography in Parkinson’s Disease: Structural And Vascular Changes in the Retina Correlate with Disease Severity and Progression | Acta Neurologica Scandinavica | Laura Giovanna Di Maio Gilda Cennamo Daniela Montorio Giovanna De Michele Gianluigi Rosario Palmieri | 2024/4/15 |
Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy | Shoji Tsuji Yasuo Nakahara Jun Mitsui Hidetoshi Date Kristine Joyce Porto | 2024/2/6 | |
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 | 2023/7 | |
Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy | Y Nakahara J Mitsui KJ Porto Y Hayashi A Yamashita | 2023/5/3 | |
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A | Journal of Neurology | Annalaura Torella Ivana Ricca Giulio Piluso Daniele Galatolo Giuseppe De Michele | 2023/10 |
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia | Movement Disorders | Demet Oender Jennifer Faber Carlo Wilke Tamara Schaprian Asadeh Lakghomi | 2023/4 |
The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria | Sara Cannizzo Vinciane Quoidbach Monika Benson Antonio Federico Alessandro Filla | 2023/8/24 | |
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes | Giovanna De Michele Luigi Maione Sirio Cocozza Mario Tranfa Chiara Pane | 2023/3/30 | |
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias | The American Journal of Human Genetics | Paulina Cunha Emilien Petit Marie Coutelier Giulia Coarelli Caterina Mariotti | 2023/7/6 |
Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia | European Journal of Preventive Cardiology | Chiara Pane Andrea Salzano Assunta Trinchillo Claudia Del Prete Carlo Casali | 2022/2/1 |
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration | Brain | Andreas Traschütz Carlo Wilke Tobias B Haack Benjamin Bender Matthis Synofzik | 2022/3/1 |
How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey | European journal of neurology | Michelangelo Mancuso Henry Houlden Maria Judit Molnar Alessandro Filla Marianthi Breza | 2022/7 |
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations | Journal of Neurology | Giovanna De Michele Daniele Galatolo Serena Galosi Andrea Mignarri Gabriella Silvestri | 2022/3/1 |
Levels of neurofilament light at the preataxic and ataxic stages of spinocerebellar ataxia type 1 | Neurology | Carlo Wilke David Mengel Ludger Schöls Holger Hengel Maria Rakowicz | 2022/5/17 |
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients | Neurological Sciences | Ilaria Di Donato Antonio Gallo Ivana Ricca Nicola Fini Gabriella Silvestri | 2022/2/1 |
Clinical-genetic features influencing disability in spastic paraplegia type 4: a cross-sectional study by the Italian DAISY network | Neurology: Genetics | Salvatore Rossi Anna Rubegni Vittorio Riso Melissa Barghigiani Maria Teresa Bassi | 2022/3/30 |
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis | Journal of Neurology | Melissa Barghigiani Giovanna De Michele Alessandra Tessa Tommasina Fico Gemma Natale | 2022/10 |
Long‐term safety and efficacy of Eculizumab in Aquaporin‐4 IgG‐positive NMOSD | Annals of neurology | Dean M Wingerchuk Kazuo Fujihara Jacqueline Palace Achim Berthele Michael Levy | 2021/6 |
Progressive myoclonus epilepsies: diagnostic yield with next-generation sequencing in previously unsolved cases | Neurology: Genetics | Laura Canafoglia Silvana Franceschetti Antonio Gambardella Pasquale Striano Anna Teresa Giallonardo | 2021/11/12 |
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes | The American Journal of Human Genetics | Carolina Courage Karen L Oliver Eon Joo Park Jillian M Cameron Kariona A Grabińska | 2021/4/1 |