Publications by authors named "Isabel Colangelo"

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Gender Is the Main Predictor of Wearing-Off and Dyskinesia in Levodopa-Naïve Patients with Parkinson's Disease.
Maria Teresa Pellecchia, Marina Picillo, Maria Claudia Russillo, Marianna Amboni, Gennarina Arabia, Isabel Colangelo

Mov Disord Clin Pract· November 2025

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Isabel Colangelo

Brain· August 2025

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α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
Arianna Braccia, Antonio Emanuele Elia, Grazia Devigili, Raffaella Lombardi, Alessia Luppino, Isabel Colangelo

J Neuropathol Exp Neurol· April 2025

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CLN6-related continuum phenotype caused by aberrant splicing.
Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo

Epilepsia Open· February 2025

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Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo

Mov Disord· July 2024

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Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, Isabel Colangelo, Federica Graziola

Mov Disord· April 2024

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Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated p.Pro170Leu Variant.
Ugo Sorrentino, Luigi M Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo

Tremor Other Hyperkinet Mov (N Y)· April 2024

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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, Ilaria Palmieri, Alberto Albanese, Isabel Colangelo

Mov Disord· December 2023

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Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Celeste Panteghini, Chiara Reale, Isabel Colangelo, Marta Suerz, Alessia Catania

Parkinsonism Relat Disord· December 2023

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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti

Genes (Basel)· July 2023

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ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Giulia Straccia, Chiara Reale, Massimo Castellani, Isabel Colangelo, Eva Orunesu

Parkinsonism Relat Disord· November 2022

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Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype.
Tatiana Svorenova, Luigi M Romito, Isabel Colangelo, Vladimir Han, Robert Jech

Parkinsonism Relat Disord· September 2022

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