Maria Spanou

Athens, ESYE31 12462, Greece

Last Updated: 09/26/2026

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Found 10 publications

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Journal: Genes

Published: May 19, 2026

The Interrater Reliability of the Greek Expanded and Revised Gross Motor Function Classification System and the Family Report Questionnaire in Cerebral Palsy.

The Interrater Reliability of the Greek Expanded and Revised Gross Motor Function Classification System and the Family Report Questionnaire in Cerebral Palsy.

Journal: Children (Basel, Switzerland)

Published: February 12, 2026

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 29, 2025

N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.

N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 02, 2024

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 06, 2024

The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.

The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.

Journal: Annals of clinical and translational neurology

Published: September 05, 2022

Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin.

Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin.

Journal: Innovations in clinical neuroscience

Published: June 21, 2021

The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.

The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.

Journal: Pediatric neurology

Published: January 25, 2021

Effects of measles-containing vaccination in children with severe underlying neurologic disease.

Effects of measles-containing vaccination in children with severe underlying neurologic disease.

Journal: Vaccine

Published: July 02, 2020

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

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

Published: April 01, 2020

Showing 1-10 of 10

Last Updated: 09/26/2026