Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48
Objective: Genetic and phenotypic characterization of six patients from two families, with pathogenic variants on the STUB1 gene. Background: Biallelic pathogenic variants on the STUB1…Facial to diaphragmatic spasms: A tale of misfortune
Objective: To describe a case of recurrent intractable hiccups (diaphragmatic spasms) developed following microvascular decompression for right hemifacial spasms. Background: A 59-year-old male was seen…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…PONTINE AND EXTRAPONTINE MYELINOLYSIS PRESENTING AS ACUTE PARKINSONISM
Objective: To report a patient with acute onset parkinsonism due to extrapontine myelinosis. Background: Osmotic demyelinating diseases of the central nervous system appear to be…Predictors of short-term anxiety outcome after subthalamic stimulation in Parkinson’s Disease
Objective: To identify clinical predictors of the effect of subthalamic nucleus deep brain stimulation (STN-DBS) on anxiety in Parkinson’s Disease (PD). Background: STN-DBS is a…Frequency of non-motor symptoms in GBA-PD may differ in carriers of mild vs. severe pathogenic variants
Objective: Parkinson's disease (PD) patients with pathogenic variants in the GBA (glucocerebrosidase) gene (GBA-PD) were reported to exhibit a younger age at onset, faster progression…Involving people with lived experience of Parkinson’s in trial design: the EJS ACT-PD initiative
Objective: To maximally involve people with the lived experience of Parkinson’s in the design of the first multi-arm multi-stage (MAMS) trial for disease modifying therapies…Deleterious GRN mutations: a new player in the etiology of Lewy body dementia
Objective: In this study we investigated the association of GRN damaging mutations in the etiology of Lewy body dementia. Background: Lewy body dementia (LBD) is…Automated quantification of facial bradykinesia through video in de-novo Parkinson’s disease
Objective: The purpose of this study was therefore to develop a fully automatic video-based hypomimia assessment tool and estimate the prevalence and characteristics of hypomimia…Asymmetric midbrain atrophy in a patient with progranulin-related FTLD
Objective: We describe an atypical imaging finding in a patient with corticobasal syndrome (CBS) and a genetic diagnosis of frontotemporal lobar dementia (FTLD) associated with…
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