Results 161 to 170 of about 53,163 (291)

Increased R2* in the Caudate Nucleus of Asymptomatic Welders [PDF]

open access: bronze, 2016
Eun Young Lee   +14 more
openalex   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

open access: yesClinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart   +17 more
wiley   +1 more source

Differential functional dysconnectivity of caudate nucleus subdivisions in Parkinson's disease. [PDF]

open access: yesAging (Albany NY), 2020
Jia X   +9 more
europepmc   +1 more source

Olig2‐specific loss‐of‐function Slc35a2 results in hypomyelination and spontaneous seizures

open access: yesEpilepsia, EarlyView.
Abstract Objective Malformations of cortical development represent major causes of drug‐resistant epilepsy, with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy recognized as a distinct pathological entity. Pathogenic X‐linked SLC35A2, encoding the uridine diphosphate–galactose transporter, has been implicated ...
Tiffany M. Bartel   +6 more
wiley   +1 more source

Restoring failed inhibition in the substantia nigra pars reticulata suppresses absence seizures in rats

open access: yesEpilepsia, EarlyView.
Abstract Objective For over four decades, the substantia nigra pars reticulata (SNr) has been recognized as a critical structure in the modulation of seizure activity. Pharmacological and optogenetic inhibition of the SNr produces robust seizure suppression in a range of seizure models.
Devin Palmer, Patrick A. Forcelli
wiley   +1 more source

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