Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

97 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome.
Dulski J, Cerquera-Cleves C, Milanowski L, Kwiatek-Majkusiak J, Koziorowski D, Ross OA, Pentela-Nowicka J, Sławek J, Wszolek ZK. Dulski J, et al. Among authors: koziorowski d. Parkinsonism Relat Disord. 2022 Jul;100:19-23. doi: 10.1016/j.parkreldis.2022.05.023. Epub 2022 Jun 4. Parkinsonism Relat Disord. 2022. PMID: 35691177
Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Hoffman-Zacharska D, et al. Among authors: koziorowski d. Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2. Parkinsonism Relat Disord. 2013. PMID: 23916651 Free PMC article.
Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Ambroziak W, Koziorowski D, Duszyc K, Górka-Skoczylas P, Potulska-Chromik A, Sławek J, Hoffman-Zacharska D. Ambroziak W, et al. Among authors: koziorowski d. J Appl Genet. 2015 Nov;56(4):451-461. doi: 10.1007/s13353-015-0282-9. Epub 2015 Apr 2. J Appl Genet. 2015. PMID: 25833766 Free PMC article.
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.
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
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, Rudzinska-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 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. Brain. 2017. PMID: 28379295 Free PMC article. No abstract available.
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Ando M, Fiesel FC, Hudec R, Caulfield TR, Ogaki K, Górka-Skoczylas P, Koziorowski D, Friedman A, Chen L, Dawson VL, Dawson TM, Bu G, Ross OA, Wszolek ZK, Springer W. Ando M, et al. Among authors: koziorowski d. Mol Neurodegener. 2017 Apr 24;12(1):32. doi: 10.1186/s13024-017-0174-z. Mol Neurodegener. 2017. PMID: 28438176 Free PMC article.
97 results