Incidence of essential tremor depending on gender, age and debut of the disease
Objective: To study the incidence of essential tremor depending on gender, age and debut of the disease in Uzbek nationality. Background: Clinical manifestation of essential…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
Objective: To study the genealogic features of Parkinson’s disease and essential tremor in people of Uzbek nationality. Background: Parkinson's disease (PD) and essential tremor (ET)…Comorbid Parkinson’s disease in a Korean patient with Alexander’s disease
Objective: We report a unique case of genetically diagnosed Alexander's disease comorbid, with clinically diagnosed Parkinson's disease. Background: Alexander disease is a neurological disease, that causes…Amylin single-nucleotide polymorphism and Parkinson’s disease
Objective: The objective of this study was to evaluate if a single nucleotide polymorphism (SNP) in the amylin sequence is present in patients with Parkinson’s…Investigation of the Effects of Propranolol on DRD3, SLC1A2 and HTRA2 Gene Expression in Patients with Essential Tremor
Objective: The aim of this study investigation of the effects of gene expressions before and after propranolol treatment. Background: Essential tremor (ET) is the most…Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the causative mutation in pedigrees with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1. Background: FCMTE is an autosomal dominant neurodegenerative…Contribution of the French registry in the understanding of Wilson disease
Objective: To describe patients from the French Wilson disease (WD) registry. Background: WD is a rare genetic disorder caused by loss of function of the…
