Adrian J. Waite
Heath Park
Cardiff, WLS, United Kingdom
Cardiff, WLS, United Kingdom
Last Updated: 09/26/2026
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Found 22 publications
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal: American journal of human genetics
Published: November 12, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Journal: Frontiers in molecular biosciences
Published: August 18, 2023
The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene.
Journal: Stem cell research
Published: January 29, 2020
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
Journal: Cold Spring Harbor molecular case studies
Published: December 20, 2018
The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.
Journal: Schizophrenia bulletin
Published: December 12, 2017
Ryanodine receptors are part of the myospryn complex in cardiac muscle.
Journal: Scientific reports
Published: March 10, 2017
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
Journal: Neurobiology of disease
Published: August 13, 2016
Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 02, 2016
Huntingtin Exists as Multiple Splice Forms in Human Brain.
Journal: Journal of Huntington's disease
Published: September 24, 2015
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Journal: Annals of neurology
Published: March 10, 2015
SGCZ mutations are unlikely to be associated with myoclonus dystonia.
Journal: Neuroscience
Published: March 23, 2014
Last Updated: 09/26/2026