Results 161 to 170 of about 1,568,688 (370)
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher +5 more
wiley +1 more source
TWO CASES OF EPIDEMIC ENCEPHALITIS, SHOWING UNUSUAL NEUROLOGIC FINDINGS [PDF]
, 1922 Joshua H. Leiner
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey +13 more
wiley +1 more source
RUPTURE OF THE SPINAL CORD IN DYSTOCIA; PSYCHIATRICAL AND NEUROLOGICAL CLINIC OF THE UNIVERSITY, GRONINGEN, HOLLAND [PDF]
, 1920 F. H. Kooy
openalex +1 more source
Case of a 96‐year‐old woman with tilt of the subjective vertical axis
Annals of Clinical and Translational Neurology, EarlyView.
Markus A. Hobert +4 more
wiley +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source