Ylenia Vaia

Milan, Italy

Last Updated: 09/26/2026

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Found 22 publications

Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature.

Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 31, 2026

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Journal: Molecular genetics and metabolism
Published: March 16, 2026

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: March 16, 2026

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: February 02, 2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism
Published: December 16, 2025

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Journal: Molecular genetics and metabolism
Published: December 05, 2025

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Journal: Cell communication and signaling : CCS
Published: October 13, 2025

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Journal: Molecular genetics and metabolism
Published: September 25, 2025

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 27, 2025

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Journal: International journal of neonatal screening
Published: August 14, 2025

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Journal: Molecular genetics and metabolism
Published: June 18, 2025

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.

Journal: Journal of child neurology
Published: May 22, 2025
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Last Updated: 09/26/2026