Results 161 to 170 of about 43,958 (304)
Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis. [PDF]
d'Orsi G +7 more
europepmc +1 more source
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer +24 more
wiley +1 more source
Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency. [PDF]
Pollini L +6 more
europepmc +1 more source
Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano +33 more
wiley +1 more source
Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]
Thomsen M +12 more
europepmc +1 more source
ABSTRACT The numerical approximation of nonlinear chaotic differential systems, such as the modified stretch‐twist‐fold (STF) flow and multi‐bond chaotic attractors, presents a significant challenge due to their sensitive dependence on initial conditions and complex dynamics where analytical solutions are unattainable.
Shina Daniel Oloniiju, Anastacia Dlamini
wiley +1 more source
Cervical spondylosis with propriospinal myoclonus and vocalization: a case report. [PDF]
Peng JH +7 more
europepmc +1 more source
Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source

