Results 141 to 150 of about 50,073 (291)
Dopa-responsive dystonia in British patients: new mutations of the GTP- cyclohydrolase I gene and evidence for genetic heterogeneity [PDF]
Oliver Bandmann
openalex +1 more source
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder linked with MECP2 variants, frequently presenting with movement disorders (MDs). Objectives This study examined the frequency, types, and associations of MDs with RTT characteristics and severity.
Silvia Boeri+5 more
wiley +1 more source
Deep Phenotyping of Musicians' Upper Limb Dystonia. [PDF]
Frucht SJ.
europepmc +1 more source
Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium [PDF]
Laurie J. Ozelius+16 more
openalex +1 more source
<i>VPS16</i>-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile. [PDF]
Mahale RR, Padmanabha H.
europepmc +1 more source
Primary torsion dystonia: the search for genes is not over [PDF]
Paul Jarman+14 more
openalex +1 more source
Abstract Background The long‐term efficacy of high‐frequency subthalamic nucleus deep brain stimulation (STN‐DBS) on freezing of gait (FOG) remains unclear. We aimed to study the mechanism and optimal therapeutic approach to long‐term post‐surgery FOG.
Raquel Barbosa+13 more
wiley +1 more source
Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options. [PDF]
Ceraolo G+5 more
europepmc +1 more source