title: Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.
authors: Unit of Neurology and Neurometabolic Diseases Department of Medical, Surgical and Neurological Sciences University of Siena, Siena, Italy.
authors: Alessandro
authors: A
authors: Malandrini
authors: Anna
authors: A
authors: Rubegni
authors: Carla
authors: C
authors: Battisti
authors: Gianna
authors: G
authors: Berti
authors: Antonio
authors: A
authors: Federico
mesh_terms: D044783:F-Box Proteins / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics / Q000648:ultrastructure*; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology*; D006180:Proton-Translocating ATPases / Q000235:genetics; D035781:Siblings; D012867:Skin / Q000648:ultrastructure*
chemical_list: C514983:ATP13A2 protein, human; D044783:F-Box Proteins; C489149:FBXO7 protein, human; D006180:Proton-Translocating ATPases