Clinical Neurogenetics

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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 Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
Dobloug, Sigurd ^LU ; Kjellström, Ulrika ^LU ; Anderson, Glenn ; Gardner, Emily ; Mole, Sara E. ; Sheth, Jayesh and Puschmann, Andreas ^LU (2024) In Molecular Genetics and Genomic Medicine 12(8).
- Contribution to journal › Article
Mark Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
Domenighetti, C. ; Puschmann, A. ^LU ; Hellberg, C. ^LU ; Sharma, M. ^LU and Elbaz, A. (2024) In Neurology 103(3).
- Contribution to journal › Article
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 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 Varicella-zoster virus vasculopathy in a patient with multiple sclerosis receiving natalizumab
Elmståhl, Anna ; Buchwald, Fredrik ^LU and Ilinca, Andreea ^LU (2023) In BMJ Case Reports 16(12).
- Contribution to journal › Article
Mark Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia
Cundari, Maurizio ^LU ; Vestberg, Susanna ^LU ; Gustafsson, Peik ^LU ; Gorcenco, Sorina ^LU and Rasmussen, Anders ^LU (2023) In Frontiers in Systems Neuroscience 17. p.1-20
- Contribution to journal › Scientific review
Mark Sag-rad : A Method for Single-Cell Population Genomics of Unicellular Eukaryotes
Gollnisch, Raphael ^LU ; Wallenius, Joel ^LU ; Gribble, Kristin E ; Ahrén, Dag ^LU and Rengefors, Karin ^LU (2023) In Molecular biology and evolution 40(5).
- 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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