ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families
Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…Phenotypic insights into ADCY5-associated disease
Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define…Pantotenate kinase associated neurodegeneration (PKAN): Proposal for a clinical rating scale
Objective: To design and validate a quantitative method for the assessment of PKAN patients. Background: Despite advances in the research of novel therapies for PKAN,…An update on genotype-phenotype correlation in X-linked dystonia-parkinsonism (XDP/DYT3)
Objective: To further characterize the severity, movement abnormalities, and disease course in an expanded cohort of subjects and their families with XDP and determine if…Dystonia-deafness syndrome caused by beta -actin gene mutation and the effect of pallidal deep brain stimulation
Objective: To report on two patients with dystonia-deafness syndrome associated with a mutation in the beta actin gene and a positive effect of pallidal deep…
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