Claudia Castiglioni

Santiago, RM, Chile

Last Updated: 09/26/2026

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Found 51 publications

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine

Published: December 17, 2025

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 03, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 04, 2025

Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.

Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.

Journal: Journal of neuromuscular diseases

Published: May 21, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

Journal: Clinical genetics

Published: December 26, 2024

VMA21-X-linked myopathy in Peru: characterization of three families.

VMA21-X-linked myopathy in Peru: characterization of three families.

Journal: Neuromuscular disorders : NMD

Published: November 20, 2024

Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

Journal: International journal of molecular sciences

Published: November 11, 2024

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Journal: Annals of clinical and translational neurology

Published: July 23, 2024

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Published: February 29, 2024

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Last Updated: 09/26/2026