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A. Szczerbinska
Researcher at Erasmus University Rotterdam
Publications - 1
Citations - 336
A. Szczerbinska is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Compound heterozygosity & Parkinsonism. The author has an hindex of 1, co-authored 1 publications receiving 313 citations.
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FBXO7 mutations cause autosomal recessive, early-onset parkinsonian- pyramidal syndrome
A. Di Fonzo,Marieke C. J. Dekker,Pasquale Montagna,A. Baruzzi,E.H. Yonova,L. Correia Guedes,A. Szczerbinska,Tianna Zhao,L.O. Dubbel-Hulsman,Carine Wouters,E. de Graaff,Wim J.G. Oyen,Erik J. Simons,Guido J. Breedveld,Ben A. Oostra,Martin W.I.M. Horstink,Vincenzo Bonifati +16 more
TL;DR: It is conclusively show that recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel genetically defined entity that is proposed to designate as PARK15.