Found: 13
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Sustainable method for Alzheimer dementia prediction in mild cognitive impairment: Electroencephalographic connectivity and graph theory combined with apolipoprotein E.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 692, doi. 10.1111/epi.12977
- By:
- Publication type:
- Article
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1284459
- By:
- Publication type:
- Article
Recognizable facial features in patients with alternating hemiplegia of childhood.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2698, doi. 10.1002/ajmg.a.37808
- By:
- Publication type:
- Article
Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2836, doi. 10.1002/ajmg.a.36251
- By:
- Publication type:
- Article
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Apolipoprotein E ε4 Allele Differently Affects the Patterns of Neuropsychological Presentation in Early- and Late-Onset Alzheimer's Disease Patients.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2004, v. 18, n. 2, p. 125, doi. 10.1159/000079191
- By:
- Publication type:
- Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116
- By:
- Publication type:
- Article
The complex interaction between APOE promoter and AD: an Italian case–control study.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 938, doi. 10.1038/ejhg.2008.263
- By:
- Publication type:
- Article
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 336, doi. 10.36185/2532-1900-037
- By:
- Publication type:
- Article
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy.
- Published in:
- Assay & Drug Development Technologies, 2014, v. 12, n. 6, p. 315, doi. 10.1089/adt.2014.587
- By:
- Publication type:
- Article
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.658451
- By:
- Publication type:
- Article
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023
- By:
- Publication type:
- Article