Giulia Ferrera

Milan, Italy

Last Updated: 09/26/2026

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Found 15 publications

Correction: Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.

Correction: Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.

Journal: Journal of neurology

Published: July 07, 2026

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

Journal: BMJ case reports

Published: May 04, 2026

Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.

Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.

Journal: Journal of the neurological sciences

Published: March 10, 2026

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Journal: Frontiers in pediatrics

Published: September 12, 2025

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Journal: Neurobiology of disease

Published: September 08, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.

The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.

Journal: Neuropediatrics

Published: August 06, 2024

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Journal: European journal of human genetics : EJHG

Published: June 13, 2024

Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

Journal: Neurocase

Published: May 21, 2024

Psychogenic non-epileptic seizures in individuals with intellectual disability/borderline cognitive function: Characterization through a comparison study.

Psychogenic non-epileptic seizures in individuals with intellectual disability/borderline cognitive function: Characterization through a comparison study.

Journal: Seizure

Published: May 19, 2024

A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.

A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.

Journal: Neuropediatrics

Published: November 07, 2023

Showing 1-12 of 15

Last Updated: 09/26/2026