Huntington disease-like: an atypical presentation of Niemann-Pick type C.
Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype. Background: NPC is a neurodegenerative autosomal recessive lysosomal storage…Juvenile Huntington’s Disease in Tunisia: Clinical Diversity and Literature review
Objective: We conducted the first JHD clinical and molecular features in Tunisia and North Africa, contributing to better understanding the diverse manifestation of the disease…Speech markers of Presymptomatic and Prodromal Huntington’s disease
Objective: To investigate the sensitivity of digital speech measures for detecting subtle cognitive-linguistic and fine motor features in people carrying the expanded HD gene, with…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…Cannabis treatment in patients with Huntington’s disease in a clinic cohort was safe and effective
Objective: To estimate the safety and efficacy of Cannabis treatment in HD patients. Background: Huntington's disease (HD) is a neurodegenerative progressive disorder inherited in an…GNAO1 related disorders: a clinical, genetic, and therapeutic update
Objective: To review the clinical phenotype and molecular findings of 125 cases with GNAO1-related disorders, delineating the typical phenotype and the phenotypic expansions and tracing…Molecular diagnosis Approch for Huntington’s Disease in Tunisia
Objective: The aim of this study is to establish a molecular diagnosis approach for huntington's Disease (HD) Background: Huntington's disease (HD) is a rare and…Quantifying Tremor in the R6/2 Mouse model of Huntington’s Diease
Objective: To better characterize and precisely quantify the tremor widely observed in R6/2 mouse models of Huntington’s disease. Background: Tremor is a prominent feature of…Mobile application for assessing the likelihood of developing depression in patients with Parkinson’s disease
Objective: To develop a mobile application for assessing the likelihood of developing depression in patients with Parkinson's disease (PwPD), taking into account the number of…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 10
- Next Page »