Alfonsina Tirozzi

Via Dell'Elettronica, IS
Pozzilli, 86077, Italy

Last Updated: 09/26/2026

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Found 27 publications

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Journal: Clinical genetics

Published: April 23, 2026

Impact of Maternal Lifetime Stress on Offspring Biological Aging: A Systematic Review and Meta-Analysis of Observational Studies.

Impact of Maternal Lifetime Stress on Offspring Biological Aging: A Systematic Review and Meta-Analysis of Observational Studies.

Journal: International journal of molecular sciences

Published: January 08, 2026

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: October 30, 2025

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Journal: Children (Basel, Switzerland)

Published: October 30, 2025

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Journal: American journal of human genetics

Published: September 26, 2025

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Journal: International journal of molecular sciences

Published: July 16, 2025

Does polypharmacy affect epigenetic aging in older people? Evidence from a longitudinal epigenome-wide methylation study.

Does polypharmacy affect epigenetic aging in older people? Evidence from a longitudinal epigenome-wide methylation study.

Journal: Clinical epigenetics

Published: June 26, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Prominent role of PM10 in the link between air pollution and incident Parkinson's Disease.

Prominent role of PM10 in the link between air pollution and incident Parkinson's Disease.

Journal: NPJ Parkinson's disease

Published: October 01, 2024

Are Methylation Patterns in the KALRN Gene Associated with Cognitive and Depressive Symptoms? Findings from the Moli-sani Cohort.

Are Methylation Patterns in the KALRN Gene Associated with Cognitive and Depressive Symptoms? Findings from the Moli-sani Cohort.

Journal: International journal of molecular sciences

Published: August 01, 2024

Blood-based biological ageing and red cell distribution width are associated with prevalent Parkinson's disease: findings from a large Italian population cohort.

Blood-based biological ageing and red cell distribution width are associated with prevalent Parkinson's disease: findings from a large Italian population cohort.

Journal: Frontiers in endocrinology

Published: January 25, 2024

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Journal: American journal of human genetics

Published: January 24, 2023

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Last Updated: 09/26/2026