Daniela T. Pilz

Glasgow, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 41 publications

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Leigh syndrome: an adult presentation of a paediatric disease.

Leigh syndrome: an adult presentation of a paediatric disease.

Journal: Practical neurology

Published: July 23, 2023

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

Journal: AJNR. American journal of neuroradiology

Published: February 24, 2022

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

Journal: Brain : a journal of neurology

Published: December 13, 2020

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Journal: Nature reviews. Neurology

Published: July 20, 2020

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Journal: Annals of neurology

Published: December 13, 2019

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Journal: American journal of human genetics

Published: June 04, 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Journal: American journal of human genetics

Published: April 06, 2019

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Journal: American journal of human genetics

Published: December 12, 2018

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Journal: American journal of human genetics

Published: October 10, 2018

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Journal: Brain : a journal of neurology

Published: September 15, 2018

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Journal: American journal of human genetics

Published: July 04, 2018

Showing 1-12 of 41

Last Updated: 09/26/2026