Andreas Puschmann

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2024
Mark SCA4: Correlation of age of onset and ZFHX3 repeat length
Wallenius, Joel ^LU and Puschmann, Andreas ^LU (2024) In Parkinsonism and Related Disorders 122. p.29-30
- Contribution to journal › Published meeting abstract
Mark TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families
Kafantari, Efthymia ^LU ; Hernandez, Victoria J. ; Necpál, Jan ; Leonidou, Marina ; Baureder, Regina ^LU ; Jech, Robert ; Zech, Michael ; Schwartz, Thomas U. and Puschmann, Andreas ^LU (2024) In Parkinsonism and Related Disorders 122. p.6-6
- Contribution to journal › Published meeting abstract
Mark Diagnosing Monogenic Stroke at Younger Age
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Kristoffersson, Ulf ^LU ; Englund, Elisabet ^LU ; Puschmann, Andreas ^LU and Lindgren, Arne G. ^LU (2024) In Stroke 55(12). p.2846-2855
- Contribution to journal › Article
Mark Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Bustillos, Bernardo A. ; Cocker, Liam T. ; Coban, Mathew A. ; Weber, Caleb A. ; Bredenberg, Jenny M. ; Boneski, Paige K. ; Siuda, Joanna ; Slawek, Jaroslaw ; Puschmann, Andreas ^LU and Narendra, Derek P. , et al. (2024) In Cells 13(18).
- Contribution to journal › Article
Mark Spinocerebellar Ataxia Type 4
Puschmann, Andreas ^LU ; Dobloug, Sigurd ^LU ; Wallenius, Joel ^LU ; Wictorin, Klas ^LU and Gorcenco, Sorina ^LU (2024) p.1-24
- Chapter in Book/Report/Conference proceeding › Book chapter
2023
Mark The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
Smith, Ruben ^LU ; Capotosti, Francesca ; Schain, Martin ^LU ; Ohlsson, Tomas ; Vokali, Efthymia ; Molette, Jerome ; Touilloux, Tanja ; Hliva, Valerie ; Dimitrakopoulos, Ioannis K. and Puschmann, Andreas ^LU , et al. (2023) In Nature Communications 14(1).
- Contribution to journal › Article
Mark Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Vollstedt, E.-J. ; Puschmann, A. ^LU and Klein, C. (2023) In PLoS ONE 18(10 October).
- Contribution to journal › Article
Mark Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
Ilinca, Andreea ^LU ; Puschmann, Andreas ^LU ; Putaala, Jukka ; de Leeuw, Frank Erik ; Cole, John ; Kittner, Stephen ; Kristoffersson, Ulf ^LU and Lindgren, Arne G ^LU (2023) In European Journal of Human Genetics 31(2). p.239-242
- Contribution to journal › Article
Mark Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
Fiesel, Fabienne C. ; Fričová, Dominika ; Hayes, Caleb S. ; Coban, Mathew A. ; Hudec, Roman ; Bredenberg, Jenny M. ; Broadway, Benjamin J. ; Markham, Briana N. ; Yan, Tingxiang and Boneski, Paige K. , et al. (2023) In Autophagy 19(6). p.1711-1732
- Contribution to journal › Article
Mark Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Sugier, Pierre Emmanuel ; Puschmann, Andreas ^LU ; Rödström, Emil Ygland ^LU and Sharma, Manu (2023) In Movement Disorders 38(4). p.604-615
- Contribution to journal › Article

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