Search Results - "Milanowski, Łukasz M"
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Mechanisms of Neurodegeneration in Various Forms of Parkinsonism-Similarities and Differences
Published in Cells (Basel, Switzerland) (16-03-2021)“…Parkinson's disease (PD), dementia with Lewy body (DLB), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and multiple system atrophy…”
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Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe
Published in Parkinsonism & related disorders (01-05-2021)“…Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors…”
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Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression
Published in npj Regenerative medicine (05-09-2022)“…Peripheral nerve injury (PNI) often results in spontaneous motor recovery; however, how disrupted cerebellar circuitry affects PNI-associated motor recovery is…”
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Early-Onset Parkinson Disease Screening in Patients From Nigeria
Published in Frontiers in neurology (14-01-2021)“…Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases,…”
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Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease
Published in Movement disorders (01-12-2021)Get full text
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PLA2G6-associated neurodegeneration in four different populations-case series and literature review
Published in Parkinsonism & related disorders (01-08-2022)“…PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia…”
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Investigating ELOVL7 coding variants in multiple system atrophy
Published in Neuroscience letters (01-04-2021)“…•Genome-wide association studies have implicated ELOVL7 variation in MSA risk.•Exonic screening of coding variants in MSA and control subjects for coding…”
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Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis
Published in International journal of molecular sciences (25-06-2022)“…Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the…”
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Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy
Published in Clinical autonomic research (01-02-2021)“…Purpose Investigate single nucleotide variants and short tandem repeats in 39 genes related to spinocerebellar ataxia in clinical and pathologically defined…”
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Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa‐Induced Dyskinesia
Published in Movement disorders (01-10-2024)“…Background Levodopa‐induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of…”
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