Clinical Neurogenetics

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2025
Mark GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population
Brolin, Kajsa Atterling ^LU ; Bäckström, David ; Wallenius, Joel ^LU ; Gan-Or, Ziv ; Puschmann, Andreas ^LU ; Hansson, Oskar ^LU and Swanberg, Maria ^LU (2025) In Parkinsonism and Related Disorders 130.
- Contribution to journal › Article
Mark Neurocognition, Cerebellar Functions and Psychiatric Features in Spinocerebellar Ataxia Type 34
Cundari, Maurizio ^LU ; Hansson, Amelia ^LU ; Kirchhoff, Lena ^LU ; Dobloug, Sigurd ^LU ; Rasmussen, Anders ^LU and Gorcenco, Sorina ^LU (2025) In Parkinsonism & Related Disorders 134.
- Contribution to journal › Published meeting abstract
Mark TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism
Kafantari, Efthymia ^LU ; Hernandez, Victoria J. ; Necpál, Ján ; Leonidou, Marina ; Baureder, Regina ^LU ; Hedberg-Oldfors, Carola ^LU ; Jech, Robert ; Zech, Michael ; Schwartz, Thomas U. and Puschmann, Andreas ^LU (2025) In Parkinsonism and Related Disorders 134.
- Contribution to journal › Article
2024
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
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 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 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 Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Gorcenco, Sorina ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Karremo, Christin ^LU ; Alinder, Erik ; Dobloug, Sigurd ^LU ; Landqvist Waldö, Maria ^LU ; Englund, Elisabet ^LU ; Ehrencrona, Hans ^LU and Wictorin, Klas ^LU , et al. (2024) In Journal of Neurology 271(1). p.526-542
- 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

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