Found: 14
Select item for more details and to access through your institution.
Reply to: "Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders".
- Published in:
- 2022
- By:
- Publication type:
- letter
Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae221
- By:
- Publication type:
- Article
Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2121, doi. 10.1002/acn3.51467
- By:
- Publication type:
- Article
Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 965, doi. 10.1002/acn3.51064
- By:
- Publication type:
- Article
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 486, doi. 10.1002/acn3.51019
- By:
- Publication type:
- Article
Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1090, doi. 10.1002/acn3.50797
- By:
- Publication type:
- Article
A missense mutation in human INSC causes peripheral neuropathy.
- Published in:
- EMBO Molecular Medicine, 2024, v. 16, n. 5, p. 1091, doi. 10.1038/s44321-024-00062-w
- By:
- Publication type:
- Article
Decoding the differentiation of mesenchymal stem cells into mesangial cells at the transcriptomic level.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-06868-5
- By:
- Publication type:
- Article
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1909, doi. 10.1002/acn3.52113
- By:
- Publication type:
- Article
Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1603, doi. 10.1002/acn3.51850
- By:
- Publication type:
- Article
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 353, doi. 10.1002/acn3.51724
- By:
- Publication type:
- Article
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.
- Published in:
- Cerebellum, 2020, v. 19, n. 4, p. 544, doi. 10.1007/s12311-020-01136-4
- By:
- Publication type:
- Article
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177296
- By:
- Publication type:
- Article
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 767, doi. 10.1002/mds.28896
- By:
- Publication type:
- Article