Valeria Capra

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 171 publications

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Journal: Current issues in molecular biology

Published: June 26, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Journal: Children (Basel, Switzerland)

Published: March 25, 2026

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Journal: Scientific reports

Published: March 09, 2026

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Journal: European journal of medical genetics

Published: January 07, 2026

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome.

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome.

Journal: Frontiers in oncology

Published: December 19, 2025

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Journal: Clinical genetics

Published: November 28, 2025

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

Journal: Communications biology

Published: September 06, 2025

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Journal: European journal of medical genetics

Published: September 05, 2025

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.

Journal: Frontiers in neurology

Published: July 17, 2025

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

Journal: International journal of molecular sciences

Published: June 10, 2025

Showing 1-12 of 171

Last Updated: 09/26/2026