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  3. Research By Disease

Disease: Tremor hereditary essential- 1

  • A family with Parkinsonism, essential tremor, restless legs syndrome, and depression
  • Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease
  • Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls
  • Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study
  • Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
  • Diagnosis of orthostatic tremor using smartphone accelerometry
  • Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)
  • Gastrointestinal disorders in hyperkinetic movement disorders and ataxia
  • Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor
  • Genetics of essential tremor
  • Inborn errors of copper metabolism
  • Non-Parkinson movement disorders: Five new things
  • Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes
  • SUMO-regulated mitochondrial function in Parkinson's disease
  • Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson's disease (ET-PD)
  • Whole genome sequencing and rare variant analysis in essential tremor families
  • Widening the phenotypic spectrum - Non epileptic presentation of folate transporter deficiency
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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