Kristina Zhelcheska

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations

L. Zaccagnini, M. Sylvester, Tim Bartels, 2022, Acta Neuropathologica.

Neurofilament light levels predict clinical progression and death in multiple system atrophy

O. Rascol, D. Burn, P. Leigh, 2022, Brain : a journal of neurology.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.