Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

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第一作者： Katarzyna,Gaweda-Walerych

第一单位： Laboratory of Neurogenetics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.

作者： Katarzyna,Gaweda-Walerych ^[1] ; Emilia J,Sitek ^[2] ; Małgorzata,Borczyk ^[3] ; Mariusz,Berdyński ^[1] ; Ewa,Narożańska ^[4] ; Bogna,Brockhuis ^[5] ; Michał,Korostyński ^[3] ; Jarosław,Sławek ^[2] ; Cezary,Zekanowski ^[1]

作者单位： Laboratory of Neurogenetics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland. ^[1] Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.;Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-462 Gdansk, Poland. ^[2] Laboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland. ^[3] Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland. ^[4] Division of Nuclear Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-214 Gdansk, Poland. ^[5]

关键词 atypical Alzheimer’s disease magnetic resonance imaging (MRI)mtDNA polymerase gamma (POLG)primary skin fibroblasts semantic dementia single-photon emission computed tomography (SPECT)urokinase-type plasminogen activator (PLAU) haploinsuficiency whole-genome sequencing (WGS)β-site APP-cleaving enzyme 1 (BACE1)