Clinical Neurogenetics

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2024
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
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 Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
Wallenius, Joel ^LU ; Kafantari, Efthymia ^LU ; Jhaveri, Emma ; Gorcenco, Sorina ^LU ; Ameur, Adam ; Karremo, Christin ^LU ; Dobloug, Sigurd ^LU ; Karrman, Kristina ^LU ; de Koning, Tom ^LU and Ilinca, Andreea ^LU , et al. (2024) In American Journal of Human Genetics 111(1). p.82-95
- 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 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 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 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 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 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

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