Genotype-Phenotype correlations of Episodic Ataxia (EA). MDSGene Systematic Review
Objective: To systematically review genotype-phenotype correlations for the four known genes causing EA. Background: EA is a group of heterogeneous disorders characterized by recurrent attacks…Benign hereditary chorea: A Tunisian family case presentation
Objective: To discuss clinical and genetic characteristics and therapeutic findings in a family with Benign Hereditary Chorea(BFC). Background: Benign hereditary chorea (BHC) is a mild…Chorea-acanthocytosis: Challenges in early diagnosis and excellent treatment response to Deep Brain Stimulation (DBS) – a case report
Objective: To describe diagnostic challenges and the response to DBS in a patient with genetically confirmed Chorea-acanthocytosis (ChAc). Background: At the age of 20 during…Clinico-pathological Findings In Autopsy Cases With Non-Specific Glial Tauopathy
Objective: Determine Clinico-pathological correlates of aging-related tau astrogliopathy (ARTAG). Background: Aging-related tau astrogliopathy (ARTAG) appears to be a morphological spectrum of astroglial pathology mostly seen in…In vivo and In vitro study of 17β estradiol against amyloid beta neurotoxicity in synaptosomes of aging female rats : A therapeutic potential drug for Alzheimer’s disease
Objective: The aim of the present study was to determine the effects of neuropeptide, neurokinin B (NKB) and amyloid beta fragment Aβ (25-35) on 17β…Clinical and cognitive features of anxiety in Parkinson’s disease
Objective: To determine the demographic, clinical and cognitive features associated with anxiety disorders in Parkinson’s disease (PD). Background: The point prevalence of anxiety disorders in…Dopamine agonist withdrawal syndrome in Sardinian patients affected by Parkinson’s disease
Objective: The aims of this study was to determine the frequency of Dopamine agonist (DA) withdrawal syndrome (DAWS) in a sample of Sardinian patients with…Botulinum Neurotoxin (BoNT) treatment in functional movement disorders: an extended follow up
Objective: To assess the long term effect of treatment with botulinum neurotoxin (BoNT) in patients with functional jerky or tremorous movement disorders. Background: Treatment options for…TPK1 mutation induced childhood onset dystonia and dyskinesia
Objective: To describe the clinical manifestation of a patient with TPK1 mutation. Background: A number of defects in thiamine metabolism are reported to cause various childhood…Associations of microtubule associated protein tau (MAPT) H1 subhaplotypes and the MAPT H2 haplotype with demographic and clinical features in Parkinson`s disease
Objective: To assess associations of microtubule associated protein tau (MAPT) H1 subhaplotypes and the H2 haplotype with clinical features in patients with Parkinson`s disease (PD).…
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