Ugo Sorrentino

Padova, 35128, Italy

Last Updated: 09/26/2026

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Found 32 publications

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 28, 2026

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Journal: EBioMedicine
Published: March 17, 2026

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Journal: Annals of clinical and translational neurology
Published: February 27, 2026

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 19, 2025

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Journal: Clinical chemistry
Published: October 13, 2025

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Journal: Annals of neurology
Published: September 24, 2025

Impact of PGT Introduction on IVF Laboratory Workload: Lessons Learned from a Single-Center Experience of 5258 Biopsies over a 10-Year Period.

Impact of PGT Introduction on IVF Laboratory Workload: Lessons Learned from a Single-Center Experience of 5258 Biopsies over a 10-Year Period.

Journal: Life (Basel, Switzerland)
Published: July 22, 2025

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 11, 2025

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

Journal: Annals of neurology
Published: December 04, 2024

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Journal: Brain : a journal of neurology
Published: October 04, 2024

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Journal: Genes
Published: September 26, 2024

Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.

Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 12, 2024
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Last Updated: 09/26/2026