Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Milder presentation in two compound heterozygote cases of spastic paraplegias type 5
Objective: Describing two mild compound heterozygote SPG5A cases. Background: Hereditary spastic paraplegia type 5 (SPG5A) is an autosomal recessive neurodegenerative disease caused by variants in…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…Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…
- « Previous Page
- 1
- …
- 4
- 5
- 6
- 7
- 8
- …
- 15
- Next Page »