Enrico Alfei

Milan, Italy

Last Updated: 09/26/2026

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Found 31 publications

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Journal: Journal of medical genetics

Published: June 09, 2025

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Journal: Epilepsia open

Published: March 12, 2025

Uncomplicated monochorionic twins: neurodevelopmental insights and implications.

Uncomplicated monochorionic twins: neurodevelopmental insights and implications.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: November 17, 2024

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Journal: AJNR. American journal of neuroradiology

Published: March 26, 2024

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.

Journal: Pharmacological research

Published: February 25, 2023

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Journal: Frontiers in genetics

Published: November 21, 2022

Rock around DYRK1A: Ethnic diversity, clinical challenges.

Rock around DYRK1A: Ethnic diversity, clinical challenges.

Journal: American journal of medical genetics. Part A

Published: February 14, 2022

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: December 30, 2021

Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study.

Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study.

Journal: Pediatric reports

Published: December 19, 2021

Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.

Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.

Journal: Neuropediatrics

Published: November 29, 2021

Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study.

Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study.

Journal: Cerebellum (London, England)

Published: October 25, 2021

Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).

Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).

Journal: Multiple sclerosis journal - experimental, translational and clinical

Published: June 18, 2021

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Last Updated: 09/26/2026