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2024
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 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 The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika ; Puschmann, Andreas ^LU ; Svenningson, Per ; Tesi, Bianca and Paucar, Martin (2024) In Heliyon 10(4).
- Contribution to journal › Article
Mark Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Gorcenco, Sorina ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Karremo, Christin ^LU ; Alinder, Erik ; Dobloug, Sigurd ^LU ; Landqvist Waldö, Maria ^LU ; Englund, Elisabet ^LU ; Ehrencrona, Hans ^LU and Wictorin, Klas ^LU , et al. (2024) In Journal of Neurology 271(1). p.526-542
- Contribution to journal › Article
2023
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 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 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
Mark Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
Vollstedt, Eva Juliane ; Puschmann, Andreas ^LU and Klein, Christine (2023) In Movement Disorders 38(2). p.286-303
- Contribution to journal › Article
Mark Whole exome sequencing of familial, combined or complex dystonia
Kafantari, E. ^LU and Puschmann, A. ^LU (2023) In Parkinsonism & Related Disorders 113(Supp). p.65-66
- Contribution to journal › Published meeting abstract
Mark A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
Dobloug, S. ^LU ; Gorcenco, S. ^LU ; Ehrencrona, H. ^LU and Puschmann, A. ^LU (2023) In Parkinsonism & Related Disorders 113(Suppl). p.72-72
- Contribution to journal › Published meeting abstract

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