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- 2024
-
Mark
Patients’ Perspective in Hereditary Ataxia
(
- Contribution to journal › Article
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
Mark
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
(
- Contribution to journal › Article
-
Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
-
Mark
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
(
- Contribution to journal › Article
-
Mark
SCA4: Correlation of age of onset and ZFHX3 repeat length
(
- 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
(
- Contribution to journal › Published meeting abstract
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Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
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Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
(
- Contribution to journal › Article
- 2023
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Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
(
- Contribution to journal › Article