Phenotypic characterization of an ATP13A2 knockout rat model of Parkinson’s disease
Objective: This project aimed to characterize the first-ever transgenic ATP13A2 knockout rat model to elucidate the underlying mechanisms of ATP13A2-associated pathology. Background: Most Parkinson’s disease…Perry Syndrome due to a DCTN1 novel variant
Objective: To report the clinical features of a patient with Perry syndrome (PS) due to a heterozygous novel pathogenic variant in the DCTN1 gene. Background:…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.…Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study
Objective: To describe the epidemiological, clinical, and genetic features of patients affected by hereditary spastic paraplegia (HSP) in an international cohort of affected individuals.To describe…Autosomal dominant Parkinson’s disease caused by SNCA p.E46K variant in family with Russian ancestry: A case report
Objective: To report a family with autosomal dominant Parkinson’s disease (PD) with SNCA p.E46K variant. Background: Alpha-synuclein, encoded by SNCA, is a part of Lewy…Quasi tandem repeat in TCERG1 may influence age at onset of X-linked dystonia-parkinsonism
Objective: To investigate whether the hexamer repeat in the TCERG1 gene plays a role in modifying disease onset in X-linked dystonia-parkinsonism (XDP). Background: Recently, it…
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