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- 2024
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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
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
- 2023
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Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
(
- Contribution to journal › Published meeting abstract
-
Mark
Patient perspective in hereditary ataxia
(
- Contribution to journal › Published meeting abstract
- 2022
-
Mark
Patients’ Perspective in Hereditary Ataxia
2022) In Cerebellum(
- Contribution to journal › Article
-
Mark
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
(
- Contribution to journal › Article
- 2020
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Mark
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
(
- Contribution to journal › Article
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Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
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Mark
Ataxia project in Scania, Sweden: Study outline and current status
(
- Contribution to journal › Published meeting abstract
- 2019
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2017
-
Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
(
- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article