Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…An AAV9 encoding human ABCD1 (SBT101) shows functional improvement following spinal cord delivery in a rodent model of adrenomyeloneuropathy
Objective: SBT101 is an adeno-associated virus serotype 9 (AAV9)-based gene therapy candidate delivering a functional copy of the human ABCD1 gene that is in development…Deep Brain Stimulation for Rare Neurodegenerative Diseases: Three-Center Experience
Objective: To report deep brain stimulation (DBS) outcomes of rare neurodegenerative movement disorders from three tertiary movement disorders centers in Turkey. Background: Deep brain stimulation…GRIN2D is a cause of autosomal dominant form of Parkinson’s disease
Objective: To identify novel genes involved in the familial form of Parkinson’s disease (PD) in the Indian population. Background: Most of the familial forms of…Correlations between cognitive impairments and brain abnormalities in Wilson disease: a systematic review
Objective: To provide an overview of brain regions involved in cognitive impairment (CI) in Wilson disease (WD) with the aim of understanding pathomechanisms. Background: WD…Longitudinal Program to Prevent PD (LoPP-PD): Multimodal Risk Stratification Informs Personalized Intervention
Objective: Longitudinal evaluation of personalized intervention strategies informed by detailed clinical and laboratory biomarker analysis to reduce relative risk of Parkinson’s disease in first degree…Novel bi-allelic variants in FBXO7 in a family with young-onset typical Parkinson’s disease
Objective: To describe the case of two brothers affected by typical young-onset Parkinson’s disease (PD), carrying novel compound heterozygous variants in FBXO7. Background: Bi-allelic mutations…ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…Atypical parkinsonism related to a rare variant in the PLA2G6 gene
Objective: To describe a patient with atypical parkinsonism, carrier of a rare PLA2G6 gene variant. Background: PLA2G6-associated neurodegeneration (PLAN) results from mutations in PLA2G6 gene…Comorbidities in Huntington’s disease: An Enroll-HD analysis
Objective: Determine the frequency of comorbidities in people with Huntington’s disease (PwHD) in comparison to non-carrier controls in the Enroll-HD cohort. Background: Despite some publications…
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