Molecular Integration in Neurological Diagnosis (MIND): A Center-Wide Approach to Improve Molecular and Genetic Characterization of Parkinson’s Disease
Objective: To develop a clinical and genetic repository of all patients with Parkinson’s disease at The University of Pennsylvania Parkinson’s Disease and Movement Disorders Center…Sex-specific effect of ATXN2 rs7969300 polymorphism on age at onset in Spinocerebellar Ataxia type 2
Objective: To assess the influence of SNP rs7969300 within ATXN2 locus on the age of onset in patients with Spinocerebellar Ataxia type 2. Background: It…Brain and spinal cord structural alterations in non-ataxic and ataxic SCA3 mutation carriers
Objective: As new therapies for SCA3 are on the horizon, there is an urgent need to identify and validate sensitive biological markers that reflect the…Sporadic progressive ataxia and palatal tremor: A case report
Objective: To report the clinical presentation and neuroimaging findings of sporadic PAPT. Background: Progressive ataxia and palatal tremor (PAPT) manifests as mid to late-adult onset slowly…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…
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