Clinical Neurogenetics

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2023
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 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 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
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
Mark Patient perspective in hereditary ataxia
Gorcenco, S. ^LU ; Karremo, C. ^LU and Puschmann, A. ^LU (2023) In Parkinsonism & Related Disorders 113(Supp). p.9-9
- Contribution to journal › Published meeting abstract
Mark Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
Rödström, E. Ygland ^LU ; Soto-Beasley, A. ; Englund, E. ^LU ; Kafantari, E. ^LU ; Dickson, D.W. ; Wszolek, Z.K. ; Puschmann, A. ^LU and Ross, O.A. (2023) In Parkinsonism & Related Disorders 113(Supp). p.28-29
- Contribution to journal › Published meeting abstract
2022
Mark Serum Neurofilament Light Chain as a Marker of Progression in Parkinson's Disease : Long-Term Observation and Implications of Clinical Subtypes
Ygland Rödström, Emil ^LU ; Mattsson-Carlgren, Niklas ^LU ; Janelidze, Shorena ^LU ; Hansson, Oskar ^LU and Puschmann, Andreas ^LU (2022) In Journal of Parkinson's Disease 12(2). p.571-584
- Contribution to journal › Article

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