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Stefano Facchini

Showing results (11-20 of 25) with videos related to

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The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Neurology|October 26, 2022
Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeRiccardo Ronco, Cecilia Perini, Riccardo Currò, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Nature Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Neurology|October 26, 2022
Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeRiccardo Ronco, Cecilia Perini, Riccardo Currò, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Nature Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
Pageof 3