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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.
Patients' Perspective in Hereditary Ataxia.
Gorcenco S, Karremo C, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Cerebellum. 2024 Feb;23(1):82-91. doi: 10.1007/s12311-022-01505-1. Epub 2022 Dec 16. Cerebellum. 2024. PMID: 36525215 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.
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.
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.
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.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Augé A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guénel P; EPITHYR consortium; Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrøm L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen N, Ran C, Belin AC, Puschmann A, Rödström EY, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Kruger R, Gasser T, Sharma M; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease… See abstract for full author list ➔ Sugier PE, et al. Among authors: puschmann a. Mov Disord. 2023 Apr;38(4):604-615. doi: 10.1002/mds.29337. Epub 2023 Feb 14. Mov Disord. 2023. PMID: 36788297 Free PMC article.
119 results