Sebastiano A. Musumeci

Troina, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Editorial: New insights into pediatric neurology: neurological disorders and epileptic encephalopathies.

Editorial: New insights into pediatric neurology: neurological disorders and epileptic encephalopathies.

Journal: Frontiers in neurology

Published: February 17, 2026

Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive-Compulsive Personality Traits.

Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive-Compulsive Personality Traits.

Journal: International journal of molecular sciences

Published: March 19, 2025

PHF21A Related Disorder: Description of a New Case.

PHF21A Related Disorder: Description of a New Case.

Journal: International journal of molecular sciences

Published: November 02, 2022

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Journal: Biomedicines

Published: August 27, 2022

Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.

Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.

Journal: Brain sciences

Published: July 31, 2021

A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.

A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.

Journal: Molecular syndromology

Published: January 27, 2021

Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Journal: Journal of musculoskeletal & neuronal interactions

Published: December 03, 2020

Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes.

Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes.

Journal: Neurobiology of disease

Published: October 02, 2020

Impact of daytime routine modifications on people with severe intellectual disability amid COVID-19 pandemic.

Impact of daytime routine modifications on people with severe intellectual disability amid COVID-19 pandemic.

Journal: Perspectives in psychiatric care

Published: August 08, 2020

Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset.

Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset.

Journal: Journal of genetics

Published: June 03, 2020

EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.

EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.

Journal: Journal of autism and developmental disorders

Published: February 07, 2019

GRIN2A: involvement in movement disorders and intellectual disability without seizures.

GRIN2A: involvement in movement disorders and intellectual disability without seizures.

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

Published: December 27, 2018

Showing 1-12 of 28

Last Updated: 09/26/2026