Found: 7
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Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A novel phenotype in an Italian family with a rare progranulin mutation.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 11, p. 6170, doi. 10.1007/s00415-022-11285-7
- By:
- Publication type:
- Article
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1393, doi. 10.1007/s10072-022-06541-7
- By:
- Publication type:
- Article
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 1, p. 305, doi. 10.1007/s10072-020-04747-1
- By:
- Publication type:
- Article
Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 3, p. 951, doi. 10.1002/epi4.12920
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- Publication type:
- Article
Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16325
- By:
- Publication type:
- Article
Selectivity of the CUBAN domain in the recognition of ubiquitin and NEDD8.
- Published in:
- FEBS Journal, 2019, v. 286, n. 4, p. 653, doi. 10.1111/febs.14752
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- Publication type:
- Article