Handwriting Features in Patients with Isolated REM Sleep Behaviour Disorder
Objective: To assess iRBD patients’ handwriting features and develop a rating scale capable of detecting early hallmarks of disease. Background: Handwriting changes, such as micrographia,…Spastic paraparesis and paroxysmal dystonia associated with a novel mutation in ATP1A3 in a spanish family
Objective: To describe a new phenotype related to a novel mutation in ATP1A3 in two women from the same family Background: Mutations in ATP1A3 have…Social phobia, anxiety and depression in patients with essential tremor
Objective: ET is the most diagnosed movement disorder, the frequency of which increases as a person ages. Background: To examine the incidence of social phobia,…Age of Onset and Choice of First-line Therapy in Essential Tremor Patients
Objective: The purpose of this study is to examine the effect of age of onset on the selection of initial medication for symptomatic management of…MRgFUS thalamotomy for essential tremor: Lesion location and clinical outcomes
Objective: To examine the clinical outcomes and their relationship with patients’ baseline demographic and clinical features and lesion characteristics at 6-month follow-up in ET patients.…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…Genome-Wide Association Study revealing novel risk loci associated with Age at Onset of Parkinson’s Disease
Objective: This study aimed to determine single-nucleotide polymorphisms (SNPs) associated with AAO in Korean PD patients. Background: Age at onset (AAO) of Parkinson’s disease (PD)…Young-onset Parkinson’s disease in a female with pathogenic deletion of the PRRT2 gene
Objective: To report a novel case of young-onset Parksinon’s disease (YOPD) associated with a pathogenic deletion of the proline-rich transmembrane protein 2 gene (PRRT2). Background:…the role of the “unfolded protein response” and the perk pathway in parkinson’s disease: study of genetic polymorphisms
Objective: To study a possible association between polymorphisms of the genes coding for proteins involved in the UPR and the development of PD or PD…
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