Clinical Neurogenetics

1 – 10 of 91

show: 10
|
sort: year (new to old)

News feed Embed this list Save this search Mark all Export

Cancel

Embed this list

copy and paste the html snippet below into your own page:

<iframe src="https://lup.lub.lu.se/search/organization/V1001114?embed=1&amp;hide_pagination=1&amp;hide_info=1&amp;hide_options=1"
  width="100%"
  height="400"
  allowtransparency="true"
  frameborder="0">
</iframe>

« previous
1
2
3
4
…
9
10
next »

2025
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
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 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
2024
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 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 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 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 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

« previous
1
2
3
4
…
9
10
next »