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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 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
2023
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 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 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

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