Nicola Y. Roberts
Leeds, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 29, 2024
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
Journal: Journal of medical genetics
Published: April 23, 2024
The management of symptomatic hyperostotic bilateral spheno-orbital meningiomas: patient series.
Journal: Journal of neurosurgery. Case lessons
Published: April 09, 2023
Re-evaluation of missense variant classifications in NF2.
Journal: Human mutation
Published: October 15, 2021
Utility of an app-based system to improve feedback following workplace-based assessment.
Journal: International journal of medical education
Published: January 08, 2017
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Journal: American journal of human genetics
Published: September 19, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Journal: The Journal of clinical investigation
Published: October 29, 2014
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Journal: Nature genetics
Published: August 10, 2013
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Journal: Nature genetics
Published: July 12, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026