Ginevra Zanni
Rome, Italy
Last Updated: 09/26/2026
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Found 102 publications
Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.
Journal: Kidney international
Published: February 10, 2026
Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.
Journal: European journal of neurology
Published: July 07, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
Journal: Journal of medical genetics
Published: June 09, 2025
Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1.
Journal: Frontiers in pediatrics
Published: April 24, 2025
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes.
Journal: Stem cell research
Published: March 06, 2025
MCT8 Deficiency in Females.
Journal: The Journal of clinical endocrinology and metabolism
Published: December 28, 2024
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
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Journal: Frontiers in psychiatry
Published: January 24, 2024
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.
Journal: Frontiers in neurology
Published: December 27, 2023
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Journal: Frontiers in psychiatry
Published: October 25, 2023
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Journal: American journal of human genetics
Published: September 13, 2023
Last Updated: 09/26/2026