Christos Proukakis
National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Parkinson's Disease Mechanisms and Treatments, Hereditary Neurological Disorders, Neurological diseases and metabolism, Genomic variations and chromosomal abnormalities, Lysosomal Storage Disorders Research
Most-Cited Works
- → Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms(2008)545 cited
- → α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?(2013)443 cited
- → Detection of mosaic and population-level structural variants with Sniffles2(2024)399 cited
- → Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase(2004)385 cited
- → Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome(2004)377 cited
- → SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia(2002)262 cited