Found: 16
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Genetic variability of the retromer cargo recognition complex in parkinsonism.
- Published in:
- Movement Disorders, 2015, v. 30, n. 4, p. 580, doi. 10.1002/mds.26104
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- Article
DNAJC13 genetic variants in parkinsonism.
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- Movement Disorders, 2015, v. 30, n. 2, p. 273, doi. 10.1002/mds.26064
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- Publication type:
- Article
Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice.
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- NPJ Parkinson's Disease, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41531-018-0063-3
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- Article
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34732-5
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- Article
DNAJC13 mutations in Parkinson disease.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1794
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- Publication type:
- Article
IntroVerse: a comprehensive database of introns across human tissues.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D167, doi. 10.1093/nar/gkac1056
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- Publication type:
- Article
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
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- Article
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 4, p. 499, doi. 10.1002/mdc3.12501
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- Publication type:
- Article
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
- Published in:
- Bioinformatics, 2022, v. 38, n. 15, p. 3844, doi. 10.1093/bioinformatics/btac409
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- Publication type:
- Article
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-023-01706-7
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- Article
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5
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- Article
A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin.
- Published in:
- Case Reports in Neurological Medicine, 2018, p. 1, doi. 10.1155/2018/6838965
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- Article
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
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- Article
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
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- 2019
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- Publication type:
- journal article
Polygenic risk of Alzheimer's disease in the Faroe Islands.
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- European Journal of Neurology, 2022, v. 29, n. 8, p. 2192, doi. 10.1111/ene.15351
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- Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
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- Article