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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 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 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
2023
Mark Clinical and genetic studies of patients and families with ataxia
Gorcenco, Sorina ^LU (2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series
- Thesis › Doctoral thesis (compilation)
Mark Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
Almasoudi, Wejdan ^LU ; Nilsson, Christer ^LU ; Kjellström, Ulrika ^LU ; Sandeman, Kevin ^LU and Puschmann, Andreas ^LU (2023) In Clinical Parkinsonism and Related Disorders 8.
- 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

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