Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C. +4 more
core +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Aim: This case report presents an unusual instance of bilateral choroidal effusion following the oral administration of acetazolamide for the treatment of pseudophakic cystoid macular edema (PCME).
Agnieszka Kudasiewicz-Kardaszewska +3 more
doaj +1 more source
Potentiation of Synaptic GluN2B NMDAR Currents by Fyn Kinase Is Gated through BDNF-Mediated Disinhibition in Spinal Pain Processing [PDF]
In chronic pain states, the neurotrophin brain-derived neurotrophic factor (BDNF) transforms the output of lamina I spinal neurons by decreasing synaptic inhibition.
Beggs, S +7 more
core +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
Influence of sulfite on ATPase activity of coupling factor CF(1) isolated from spinach chloroplasts [PDF]
The present study of sulfite participation in the regulation of the chloroplast ATP-synthase complex can help to understand the mechanisms of acid rains toxic effects on the plant photosynthetic apparatus.
O. B. Onoiko +2 more
doaj +1 more source
Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis. [PDF]
Periodic paralysis is an ion channelopathy of skeletal muscle in which recurrent episodes of weakness or paralysis are caused by sustained depolarization of the resting potential and thus reduction of fiber excitability.
Cannon, Stephen C +4 more
core +1 more source
Molecular Basis and Differentiation-Associated Alterations of Anion Secretion in Human Duodenal Enteroid Monolayers [PDF]
Background & Aims: Human enteroids present a novel tool to study human intestinal ion transport physiology and pathophysiology. The present study describes the contributions of Cl- and HCO3 - secretion to total cyclic adenosine monophosphate (cAMP ...
Avula, L.R. (Leela Rani) +6 more
core +5 more sources
ABSTRACT Purpose We aim to assess the reliability of cerebral blood flow (CBF) and cerebrovascular reactivity (CVR) obtained simultaneously from a novel multi‐band pseudo‐continuous arterial spin labeling (M2‐PCASL) sequence and hypercapnic gas challenge, to examine factors influencing CBF variability, and to evaluate the impact of carbon dioxide (CO2)
Jody Todd +3 more
wiley +1 more source
Focal Spot, Fall/Winter 1987 [PDF]
https://digitalcommons.wustl.edu/focal_spot_archives/1047/thumbnail ...
core +1 more source

