Search Results - "Dati, Giovanna"
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The Role of VPS35 in the Pathobiology of Parkinson’s Disease
Published in Cellular and molecular neurobiology (01-03-2021)“…The vacuolar protein sorting 35 ( VPS35 ) gene located on chromosome 16 has recently emerged as a cause of late-onset familial Parkinson’s disease (PD)…”
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GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
Published in Movement disorders (01-11-2020)“…Background Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum…”
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Motor, cognitive and behavioral differences in MDS PSP phenotypes
Published in Journal of neurology (01-07-2019)“…Introduction Movement Disorder Society (MDS) new diagnostic criteria for Progressive Supranuclear palsy (PSP) identifying different disease phenotypes were…”
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Expanding the Spectrum of GBA1‐Associated Neurodegenerative Diseases in an Italian Family
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-08-2024)“…Background Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in…”
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Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes
Published in Journal of Alzheimer's disease (01-01-2020)“…Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia. The objective of the present study is to describe clinical…”
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APP‐Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-10-2020)“…View Supplementary Video 1…”
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Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study
Published in Parkinsonism & related disorders (01-03-2021)“…To perform the genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome. A Next Generation Sequencing – based targeted…”
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Serum miR-30c-5p is a potential biomarker for multiple system atrophy
Published in Molecular biology reports (01-04-2019)“…Multiple system atrophy (MSA) is a neurodegenerative disease that belongs to the α synucleinopathies. Clinically, there is an overlap between MSA and…”
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