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.…Hereditary spastic paraparesis plus syndrome associated to a novel FARS2 gene mutation
Objective: To communicate a novel mutation in the phenylalanyl-tRNA synthetase 2 (FARS2) gene causing spastic paraparesis. Background: Hereditary spastic paraplegias (HSP) are a complex group…Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6
Objective: To describe three cases of complicated hereditary spastic paraplegia (cHSP) like presentation in PLA2G6. Background: PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative…Late onset Wilson’s disease with hepatic and neurological manifestations
Objective: To report a patient with clinically diagnosed late-onset Wilson’s disease (WD). Background: WD is an autosomal recessive disorder of copper biliary excretion caused by…A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Primary familial brain calcifications in Sweden
Objective: Our main aim was to define the clinical presentation and genotypes of a cohort with primary familial brain calcifications (PFBC) at a tertiary center…Atypical alternating hemiplegia of childhood in Korea: A case report
Objective: To report an atypical case of alternating hemiplegia of childhood (AHC), which has not yet been reported in Korea. Background: The ATP1A3 gene pathologic…The role of polymorphic allelic variants of the VEGFα and TGFβ gene in the development of cerebrovascular disorders in patients with metabolic syndrome
Objective: The aim of the study was to understand the link between the VEGFα and TGFβ genes in the development of stroke in patients with…Movement Disorders in Spanish Cathedrals
Objective: To review Movement Disorders represented in some Spanish Cathedrals. Background: Movement Disorders have a recent history in medicine but it is possible to find…
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