Marcello R. Scala

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 165 publications

Correction: A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.

Correction: A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.

Journal: The Journal of biological chemistry

Published: June 27, 2026

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Journal: Current issues in molecular biology

Published: June 26, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity.

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity.

Journal: Epilepsia open

Published: February 22, 2026

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Journal: European journal of medical genetics

Published: January 07, 2026

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Journal: Clinical genetics

Published: November 28, 2025

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Journal: HGG advances

Published: November 10, 2025

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Journal: Epilepsia open

Published: October 24, 2025

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

Journal: Communications biology

Published: September 06, 2025

Showing 1-12 of 165

Last Updated: 09/26/2026