Fulvio D'abrusco

Pavia, Italy

Last Updated: 09/26/2026

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Found 16 publications

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Journal: Journal of medical genetics

Published: June 09, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 2025

The relevance of primary cilia in neurological disorders.

The relevance of primary cilia in neurological disorders.

Journal: The Lancet. Neurology

Published: December 30, 2024

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Journal: American journal of medical genetics. Part A

Published: September 04, 2024

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.

Journal: Journal of medical genetics

Published: August 08, 2024

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia.

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia.

Journal: iScience

Published: June 19, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Journal: European journal of human genetics : EJHG

Published: May 27, 2024

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Journal: AJNR. American journal of neuroradiology

Published: March 26, 2024

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

Journal: American journal of medical genetics. Part A

Published: October 06, 2023

Visual function in children with Joubert syndrome.

Visual function in children with Joubert syndrome.

Journal: Developmental medicine and child neurology

Published: August 05, 2022

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

Journal: Journal of medical genetics

Published: May 24, 2022

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Journal: International journal of molecular sciences

Published: May 06, 2022

Showing 1-12 of 16

Last Updated: 09/26/2026