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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

119 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover.
Fiesel FC, Fričová D, Hayes CS, Coban MA, Hudec R, Bredenberg JM, Broadway BJ, Markham BN, Yan T, Boneski PK, Fiorino G, Watzlawik JO, Hou X, McCarty AM, Lewis-Tuffin LJ, Zhong J, Madden BJ, Ordureau A, An H, Puschmann A, Wszolek ZK, Ross OA, Harper JW, Caulfield TR, Springer W. Fiesel FC, et al. Among authors: puschmann a. Autophagy. 2023 Jun;19(6):1711-1732. doi: 10.1080/15548627.2022.2151294. Epub 2022 Dec 5. Autophagy. 2023. PMID: 36469690 Free PMC article.
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S, Kafantari E, Wallenius J, Karremo C, Alinder E, Dobloug S, Landqvist Waldö M, Englund E, Ehrencrona H, Wictorin K, Karrman K, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. J Neurol. 2024 Jan;271(1):526-542. doi: 10.1007/s00415-023-11990-x. Epub 2023 Oct 3. J Neurol. 2024. PMID: 37787810 Free PMC article.
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Ross OA, et al. Among authors: puschmann a. Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30. Lancet Neurol. 2011. PMID: 21885347 Free PMC article.
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W, Nilsson C, Kjellström U, Sandeman K, Puschmann A. Almasoudi W, et al. Among authors: puschmann a. Clin Park Relat Disord. 2023 Feb 22;8:100189. doi: 10.1016/j.prdoa.2023.100189. eCollection 2023. Clin Park Relat Disord. 2023. PMID: 36879630 Free PMC article.
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden.
Lindahl H, Svensson E, Danielsson A, Puschmann A, Svenningson P, Tesi B, Paucar M. Lindahl H, et al. Among authors: puschmann a. Heliyon. 2024 Feb 15;10(4):e26073. doi: 10.1016/j.heliyon.2024.e26073. eCollection 2024 Feb 29. Heliyon. 2024. PMID: 38404774 Free PMC article.
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A. Wallenius J, et al. Among authors: puschmann a. Am J Hum Genet. 2024 Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29. Am J Hum Genet. 2024. PMID: 38035881 Free PMC article.
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases.
Smith R, Capotosti F, Schain M, Ohlsson T, Vokali E, Molette J, Touilloux T, Hliva V, Dimitrakopoulos IK, Puschmann A, Jögi J, Svenningsson P, Andréasson M, Sandiego C, Russell DS, Miranda-Azpiazu P, Halldin C, Stomrud E, Hall S, Bratteby K, Tampio L'Estrade E, Luthi-Carter R, Pfeifer A, Kosco-Vilbois M, Streffer J, Hansson O. Smith R, et al. Among authors: puschmann a. Nat Commun. 2023 Oct 27;14(1):6750. doi: 10.1038/s41467-023-42305-3. Nat Commun. 2023. PMID: 37891183 Free PMC article.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al-Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Carmine Belin A, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop-Çakmak Ö, Pimentel MMG, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Vollstedt EJ, et al. Among authors: puschmann a. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
119 results