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Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: koziorowski d. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
ADCY5-related dyskinesia - case series with literature review.
Kozon K, Łysikowska W, Olszewski J, Milanowski Ł, Figura M, Mazurczak T, Hoffman-Zacharska D, Koziorowski D. Kozon K, et al. Among authors: koziorowski d. Neurol Neurochir Pol. 2024;58(2):161-166. doi: 10.5603/pjnns.97024. Epub 2024 Jan 17. Neurol Neurochir Pol. 2024. PMID: 38230756 Free article. Review.
The Assessment of Subregions in the Frontal Lobe May Be Feasible in the Differential Diagnosis of Progressive Supranuclear Palsy-Parkinsonism Predominant (PSP-P) and Multiple System Atrophy (MSA).
Alster P, Madetko-Alster N, Migda B, Nieciecki M, Koziorowski D, Królicki L. Alster P, et al. Among authors: koziorowski d. Diagnostics (Basel). 2022 Oct 7;12(10):2421. doi: 10.3390/diagnostics12102421. Diagnostics (Basel). 2022. PMID: 36292111 Free PMC article.
91 results