Clinical Neurogenetics

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2023
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 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)
2022
Mark A relatively common hypomorphic variant in WARS2 causes monogenic disease
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU and Puschmann, Andreas ^LU (2022) In Parkinsonism and Related Disorders 94. p.129-131
- Contribution to journal › Debate/Note/Editorial
Mark Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
Domenighetti, C. ; Puschmann, A. ^LU ; Hellberg, C. ^LU and Elbaz, A. (2022) In Journal of Parkinson's Disease 12(1). p.267-282
- Contribution to journal › Article
Mark The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
Domenighetti, Cloé ; Puschmann, Andreas ^LU ; Ygland Rödström, Emil ^LU and Elbaz, Alexis (2022) In Movement Disorders 37(9). p.1929-1937
- Contribution to journal › Article
Mark Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors
Liu, Hui ; Dehestani, Mohammad ; Blauwendraat, Cornelis ; Makarious, Mary B ; Leonard, Hampton ; Kim, Jonggeol J ; Schulte, Claudia ; Noyce, Alastair ; Jacobs, Benjamin M and Foote, Isabelle , et al. (2022) In Annals of Neurology 92(2). p.270-278
- Contribution to journal › Article
Mark Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
Garcia-Moreno, Hector ; Prudencio, Mercedes ; Thomas-Black, Gilbert ; Solanky, Nita ; Jansen-West, Karen R ; Hanna Al-Shaikh, Rana ; Heslegrave, Amanda ; Zetterberg, Henrik ^LU ; Santana, Magda M and Pereira de Almeida, Luis , et al. (2022) In European Journal of Neurology 29(8). p.2439-2452
- Contribution to journal › Article
Mark Dairy Intake and Parkinson's Disease : A Mendelian Randomization Study
Domenighetti, Cloé ; Puschmann, Andreas ^LU ; Hellberg, Clara ^LU and Elbaz, Alexis (2022) In Movement Disorders 37(4). p.857-864
- Contribution to journal › Article
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
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 (2022) In European Journal of Human Genetics
- Contribution to journal › Article

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