Found: 5
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Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.
- Published in:
- 2017
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- Publication type:
- journal article
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 2003, doi. 10.1093/brain/awac391
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- Publication type:
- Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
- By:
- Publication type:
- Article
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab221
- By:
- Publication type:
- Article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
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- Publication type:
- Article