Nino Spataro
Barcelona Biomedical Research Park
Barcelona, CT, Spain
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 28 publications
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine.
Journal: American journal of medical genetics. Part A
Published: January 09, 2026
Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson's disease.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2025
Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.
Journal: BMC psychiatry
Published: May 16, 2025
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.
Journal: Clinical genetics
Published: December 16, 2024
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Journal: American journal of human genetics
Published: June 20, 2024
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
Journal: Database : the journal of biological databases and curation
Published: April 02, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Journal: Molecular psychiatry
Published: January 13, 2024
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Journal: Frontiers in genetics
Published: September 08, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Journal: Genes
Published: February 16, 2023
Elimination of lipaemic interference by high-speed centrifugation.
Journal: Biochemia medica
Published: July 11, 2022
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Journal: Journal of medical genetics
Published: January 28, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Journal: PloS one
Published: November 10, 2020
Last Updated: 09/26/2026