A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…Cognitive profiling in a cohort of Primary Familial Brain Calcification (PFBC) patients
Objective: To investigate neuropsychological and behavioural profile of PFBC patients. Background: PFBC is a rare genetic neurodegenerative disorder characterized by abnormal calcium phosphate deposition basal…Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.
Objective: To report a new presenilin-1 (PSEN 1) missense variant (p.Pro88Arg) characterized by initial Progressive Supranuclear Palsy (PSP) like phenotype. Background: Pathogenic variants in the PSEN1gene…Be aware of pitfalls: Bioinformatic analysis of Cas9-targeted Nanopore sequencing of the RFC1 repeat in CANVAS
Objective: To determine the full sequence and length of the pentanucleotide repeat in the RFC1 gene by Cas9-targeted Nanopore sequencing in patients with cerebellar ataxia…Automatic and objective speech analysis in Huntington disease
Objective: To investigate the use of digital technology to assess speech in people with Huntington disease (HD). Background: Dysarthria is common in Huntington disease and…Widespread loss of presynaptic terminal marker SV2A in early Huntington’s disease.
Objective: To assess synaptic damage in early stages of Huntington’s disease (HD) in vivo. Background: Synaptic damage has long been suspected to play a major…Evaluation of CSF Assay usability for Huntington’s Disease (HD) Clinical Studies (mHTT, tHTT and NFL in HDClarity)
Objective: Evaluate clinical utility of candidate biomarker assays for HD studies. Background: Multiple clinical trials targeting the lowering of huntingtin (HTT) are underway or planned.…Brain MRI Cortical Atrophy correlation to clinical onset in Huntington’s Disease
Objective: To describe brain Magnetic Resonance Imaging (MRI) characteristics in Latin American individuals with Huntington's Disease (HD) and to correlate them to major symptom at…Characterising the incidence of comorbidities, hospitalisations, and death in patients diagnosed with Huntington’s disease: A cohort study of linked Swedish National Registries (2002-2019)
Objective: To investigate comorbidities, hospitalizations, and mortality in patients newly diagnosed with Huntington’s disease using data extracted from three linked Swedish national health registries from…
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