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…PNKP deficiency mimicking a benign hereditary chorea: the misleading presentation of a neurodegenerative disorder
Objective: We report on a new case expanding the clinical presentation of PNKP deficiency Background: PNKP gene encodes for a kinase/phosphatase protein involved in DNA…An updated flow chart for the evaluation of chorea
Objective: The aim of this poster is to provide a tool to facilitate diagnosis of chorea. This flow chart has been presented at previous MDS…Mu opioid receptor agonism, not antagonism, for the treatment of L-DOPA-induced dyskinesia in Parkinson’s disease
Objective: To reappraise the role of the µ opioid receptor as a therapeutic target for L-DOPA-induced dyskinesia. Background: Parkinson’s disease (PD) is commonly treated with…Differential enhancement of ERK, PKA and Ca2+ signaling in direct and indirect striatal neurons of Parkinsonian mice
Objective: To identify cell-specific and dynamical modifications of signaling pathways associated with PD and drug-induced modifications Background: Parkinson's disease (PD) is characterized by severe locomotor…Factitious Disorder Imposed on Another mimicking a Dopamine Dysregulation Syndrome
Objective: To present a new type of Dopamine Dysregulation Syndrome in Parkinson's Disease. Background: Dopamine Dysregulation Syndrome (DDS) is a rare neuropsychiatric complication of Parkinson’s…
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