Risk and timing of manifest Huntington’s disease in patients with reduced penetrance alleles
Objective: To estimate risk of Huntington’s disease (HD) over time in patients with reduced penetrance (RP) alleles (36-39 CAG repeats) overall, by individual repeat length,…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…Genetic features and long-term outcome of Korean patients with Huntington’s disease.
Objective: To investigate the genetic characteristics and long-term outcome of Korean patients with Huntington’s disease. Background: Huntington’s disease is an autosomal dominant neurodegenerative disease, which…SCA48: Ataxia Plus Chorea in a New Spanish Family
Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…Identification of a novel XK mutation in a Chinese patient with McLeod Syndrome
Objective: To present a new McLeod syndrome patient with a novel XKmutation to expand the current knowledge on this disease. Background: McLeod syndrome is an…Aceruloplasminemia Presenting as Huntington’s Disease –Look –Alike with Unique MRI Features
Objective: To report case of generalised chorea due to aceruloplasminemia caused by novel mutation in the CP gene Background: Aceruloplasminemia is a type of Neurodegeneration…Prion disease with 8 octapeptide repeat insertional mutation presenting with HDL1 phenotype
Objective: To report the clinical and genetic features in a patient with an insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP).…Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene
Objective: This work sought to investigate the frequency and characteristics of movement disorders (MD) associated with repeat expansions or intermediate repeats in the C9orf72 gene.…Genetic analysis of Huntington’s Disease in a Brazilian Amazonian population
Objective: Characterize genetically a series of cases of patients with Huntington’s disease and their family members at risk in the city of Manaus, capital of…Huntington’s disease in Egypt; A big challenge for a mysterious disease
Objective: To identify the challenges of managing Huntington’s disease in Egypt in order to overcome them. Background: Huntington’s disease (HD) is considered a rare disease…
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