selected publications
- Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain : a journal of neurology. 2024 Academic Article GET IT
- Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. 2024 GET IT
-
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Nature genetics.
2024
Academic Article
GET IT
Times cited: 2 -
Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.
2023
GET IT
Times cited: 2 -
A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia.
Nature medicine.
2023
Academic Article
GET IT
Times cited: 24 -
Deconstructive repair of a traumatic vertebrovertebral arteriovenous fistula via a contralateral endovascular approach.
2022
GET IT
Times cited: 1 -
To Be or Not to Be Eisenmenger: The Different Shades of Blue.
2021
GET IT
Times cited: 1 -
CRISPR Guide RNA Cloning for Mammalian Systems.
Journal of visualized experiments : JoVE.
2018
Academic Article
GET IT
Times cited: 13 -
Transcriptional Activation of Pericentromeric Satellite Repeats and Disruption of Centromeric Clustering upon Proteasome Inhibition.
PloS one.
2016
Academic Article
GET IT
Times cited: 4 -
Epigenetics and Triplet-Repeat Neurological Diseases.
Frontiers in neurology.
2015
Review
GET IT
Times cited: 27 -
Subarachnoid haemorrhage as the presenting feature of lumbar spinal arteriovenous malformation.
2013
GET IT
Times cited: 1