Christos Proukakis

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

Aoife P. Kiely, Yasmine T. Asi, Eleanna Kara et al. · Acta Neuropathologica · 2013 · 435 citations · Full text

Motor Dysfunction, Neurogenomics, Brain Development +25

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 381 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Detection of mosaic and population-level structural variants with Sniffles2

Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski et al. · Nature Biotechnology · 2024 · 377 citations · Full text

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 374 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Heema Patel, Christos Proukakis, R. Jane Hershberger et al. · Nature Genetics · 2002 · 262 citations

Medicine, Genetics, Pathology +2