5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies
Objective: To report a case of KCNA2 mutation variant with tics. Background: Mutations in the KCNA2 gene impact the function of a voltage-gated potassium channel…Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation
Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease
Objective: To determine the effects of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on early brain development in vivo, in a HPRT1-deficient mouse model. Background: Lesch-Nyhan…Special features of parkinsonism with congenital anomalies of cerebral vessels
Objective: To study the features of the flow of parkinsonism with congenital anomalies of cerebral vessels. Background: Analysis of the study of neurological status, data…Evaluation of nigral neuronal apoptosis during postnatal development and adulthood of mice strains with differential sensitivity to MPTP
Objective: Compare nigral neurons in C57BL/6J, CD-1 and their F1 crossbreds with respect to developmental apoptosis in the nigra during postnatal and to assess MPTP-induced…Gender-dependent improvement in the survival of Parkinson’s disease patients in Finland
Objective: To longitudinally investigate the overall survival (OS) of a large cohort of Parkinson's disease (PD) patients. Background: While there is evidence of increasing incidence,…Study on feasibility to develop a central nervous system (CNS) Leucine-rich repeat kinase 2 (LRRK2) PET tracer
Objective: To assess feasibility of developing a CNS LRRK2 PET tracer. Background: LRRK2 enzyme belongs to the leucine-rich repeat kinase family. Pathogenic mutations in the…The pulmonary function and respiratory muscle strength tests of elderly people with Parkinson’s disease: A two-year observational study
Objective: To follow for two years pulmonary function and respiratory muscle strength tests of elderly people with Parkinson's disease (PD). Background: Respiratory disorders are common…
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