Andreas Puschmann
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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
- 2023
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Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
(
- Contribution to journal › Article
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Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
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- Contribution to journal › Article
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
-
Mark
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
(
- Contribution to journal › Article
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Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
(
- Contribution to journal › Article
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Mark
Whole exome sequencing of familial, combined or complex dystonia
(
- Contribution to journal › Published meeting abstract
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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
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- Contribution to journal › Published meeting abstract
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Mark
Patient perspective in hereditary ataxia
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- Contribution to journal › Published meeting abstract
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Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
(
- Contribution to journal › Published meeting abstract