Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
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- Neurogenetics, 2024, v. 25, n. 1, p. 3, doi. 10.1007/s10048-023-00737-5
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- Article
Works matching IS 13646745 AND DT 2024 AND VI 25 AND IP 1
Results: 8
1
2
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
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- Neurogenetics, 2024, v. 25, n. 1, p. 27, doi. 10.1007/s10048-023-00738-4
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- Article
3
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.
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- Neurogenetics, 2024, v. 25, n. 1, p. 33, doi. 10.1007/s10048-023-00741-9
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- Article
4
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.
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- Neurogenetics, 2024, v. 25, n. 1, p. 13, doi. 10.1007/s10048-023-00736-6
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5
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics.
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- Neurogenetics, 2024, v. 25, n. 1, p. 47, doi. 10.1007/s10048-024-00747-x
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- Article
6
New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics.
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- Neurogenetics, 2024, v. 25, n. 1, p. 1, doi. 10.1007/s10048-023-00740-w
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- Article
7
Dem-Aging: autophagy-related pathologies and the "two faces of dementia".
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- Neurogenetics, 2024, v. 25, n. 1, p. 39, doi. 10.1007/s10048-023-00739-3
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- Article
8
Retraction Note: Clinical characterization of familial 1p36.3 microduplication.
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- Neurogenetics, 2024, v. 25, n. 1, p. 49, doi. 10.1007/s10048-023-00735-7
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- Article