Chiara Aiello

Rome, 00146, Italy

Last Updated: 09/26/2026

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Found 34 publications

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Journal: Neurobiology of disease

Published: July 30, 2025

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Journal: European journal of human genetics : EJHG

Published: June 18, 2024

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.

Journal: Children (Basel, Switzerland)

Published: April 07, 2024

Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.

Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.

Journal: Annals of neurology

Published: December 13, 2022

Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Journal: Clinical neurology and neurosurgery

Published: November 08, 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

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Journal: European journal of human genetics : EJHG

Published: December 27, 2021

Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 25, 2021

Expanded phenotype of AARS1-related white matter disease.

Expanded phenotype of AARS1-related white matter disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 04, 2021

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series.

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series.

Journal: Endocrinology, diabetes & metabolism case reports

Published: March 22, 2021

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Journal: Journal of human genetics

Published: January 10, 2021

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Last Updated: 09/26/2026