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Article

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.

Parkinsonism & related disorders - 1 Nov 2014

Yalcin-Cakmakli Gul, Olgiati Simone, Quadri Marialuisa, Breedveld Guido J, Cortelli Pietro, Bonifati Vincenzo, Elibol Bulent

Abstract excerpt

Juvenile parkinsonism can be caused by recessive mutations in several genes. Among these, homozygous or compound heterozygous mutations in the F-box only protein 7 gene (FBXO7) cause juvenile parkinsonism with variable degrees of pyramidal disturbances (PARK15). So far, only five families (from Iran, Italy, The Netherlands, Pakistan, and Turkey) have been reported with this form. Here, we describe a new Turkish...

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Source

Identifiers

PMID: 25085748
DOI: 10.1016/j.parkreldis.2014.06.024

Genes

FBXO7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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