Territorial inventory of training needs in nursing home for the support of patients with Parkinson’s syndrome
Objective: - Raise awareness among the various professionals in contact with patients suffering from Parkinson's syndromes- Optimize follow-up and support- Avoid emergency room visits through…Utility of Instrumented Timed Up and Go Test to Estimate Disease Severity in Huntington Disease.
Objective: To investigate the utility of Instrumented Timed Up and Go (TUG) test to estimate disease severity in people with Huntington Disease (PwHD). Background: Huntington…Patient Reported Outcomes of Using a Chaplain Service in a Huntington’s Disease Clinic
Objective: To better understand and describe the impact of providing spiritual care, in the form of a chaplain service, to patients being seen in a…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…The use of modelling in Huntington’s disease
Objective: Summarising the development of mathematical models to further HD research through characterisation and disease progression. Background: There have been major advances in HD research…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…Global presence and penetrance of CSF1R-Related disorder
Objective: The study aimed to assess the occurrence of CSF1R-related disorder (CSF1R-RD) and present the first haplotype analysis. Background: Since the discovery of CSF1-R gene…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Using wearable wireless technology to understand the natural history of adrenomyeloneuropathy in both clinic and home settings: 1-year follow-up in the CYGNET study
Objective: To assess the feasibility of using wearable wireless motion sensors to quantify disease progression in men with adrenomyeloneuropathy (AMN) enrolled in the CYGNET natural…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- …
- 16
- Next Page »