Clinical Neurogenetics

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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 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 Patients’ Perspective in Hereditary Ataxia
Gorcenco, Sorina ^LU ; Karremo, Christin ^LU and Puschmann, Andreas ^LU (2024) In Cerebellum 23(1). p.82-91
- Contribution to journal › Article
2023
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 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 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)
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

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