Found: 18
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Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families.
- Published in:
- Movement Disorders, 2012, v. 27, n. 3, p. 460, doi. 10.1002/mds.24027
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- Publication type:
- Article
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
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- Neurogenetics, 2015, v. 16, n. 1, p. 55, doi. 10.1007/s10048-014-0425-x
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- Article
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00514
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- Article
Fahr's Disease Linked to a Novel SLC20A2 Gene Mutation Manifesting with Dynamic Aphasia.
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- Neurodegenerative Diseases, 2014, v. 14, n. 3, p. 133, doi. 10.1159/000365216
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- Article
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
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- 2024
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- 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
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- Article
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
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- Neurological Sciences, 2023, v. 44, n. 4, p. 1393, doi. 10.1007/s10072-022-06541-7
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- Publication type:
- Article
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.
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- Neurological Sciences, 2022, v. 43, n. 3, p. 1791, doi. 10.1007/s10072-021-05613-4
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- Publication type:
- Article
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.
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- Neurological Sciences, 2021, v. 42, n. 1, p. 305, doi. 10.1007/s10072-020-04747-1
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- Article
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2.
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- 2018
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- Publication type:
- case study
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy.
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- 2013
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- Publication type:
- Letter
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
Focal neuromyotonia associated with a C9ORF72 expansion mutation.
- Published in:
- 2020
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- Publication type:
- case study
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 4, p. e40, doi. 10.1111/epi.12944
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- Publication type:
- Article
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
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- Epilepsia (Series 4), 2012, v. 53, n. 12, p. e196, doi. 10.1111/epi.12009
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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.
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- European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16325
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- Publication type:
- Article
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation.
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- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151359
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- Publication type:
- Article
AKT1<sup>E17K</sup> Is Oncogenic in Mouse Lung and Cooperates with Chemical Carcinogens in Inducing Lung Cancer.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147334
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- Publication type:
- Article