Clinical Neurogenetics

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2024
Mark Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
Yektay Farahmand, Maha ^LU ; Wasselius, Johan ^LU ; Englund, Elisabet ^LU ; Braverman, Irwin ; Puschmann, Andreas ^LU and Ilinca, Andreea ^LU (2024) In Neurologia i neurochirurgia polska 58(1). p.94-105
- 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
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 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 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
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 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 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

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