Found: 14
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Benign Hereditary Chorea as a Manifestation of HPCA Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 130, doi. 10.1002/mdc3.13572
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- Publication type:
- Article
DNA and RNA deep sequencing and epigenetic characterization of two kindred cases affected by slow and fast decline dementia: Genetics/omics and systems biology.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.043524
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- Publication type:
- Article
P1‐495: SLOW AND FAST DECLINE DEMENTIA: CLINICAL, PATHOLOGICAL AND GENETIC CHARACTERIZATION OF TWO RELATED CASES.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P518, doi. 10.1016/j.jalz.2018.06.505
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- Publication type:
- Article
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 3870, doi. 10.3390/ijms22083870
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- Article
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 17, doi. 10.3390/jcm8010017
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- 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
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- Publication type:
- Article
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis—Frontotemporal Dementia.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.841394
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- Publication type:
- Article
Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation.
- Published in:
- 2021
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- Publication type:
- Case Study
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 1, p. 221, doi. 10.1007/s13760-022-02165-y
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- Publication type:
- Article
Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase.
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 1060, doi. 10.1002/mds.29736
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- Publication type:
- Article
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
- Published in:
- Movement Disorders, 2023, v. 38, n. 12, p. 2241, doi. 10.1002/mds.29617
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- Publication type:
- Article
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
- Published in:
- 2022
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- Publication type:
- journal article
Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia.
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071687
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- Publication type:
- Article
Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 539, doi. 10.3390/genes15050539
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- Publication type:
- Article