An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
To comprehensively examine static and dynamic functional connectivity density (FCD) in left temporal lobe epilepsy (LTLE) and right temporal lobe epilepsy (RTLE).
Chengru Song +5 more
doaj +1 more source
O estudo das cefaleias primárias na doença de parkinson e na epilepsia do lobo temporal mesial associada à esclerose do hipocampo [PDF]
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Ciências Médicas, Florianópolis, 2013.Justificativa: As cefaleias primárias apresentam uma alta prevalência na população geral.
Nunes, Jean Costa
core
Ac‐SDKP modulates apoptosis via HSP27 and the FAS/FASL and mitochondrial axes
Schematic diagram of Ac‐SDKP regulating the FAS/FASL and mitochondrial apoptosis pathways via HSP27. Ac‐SDKP inhibits HSP27 expression, activates the FAS/FASL pathway and Caspase‐3 signaling, increases Caspase‐8 and Caspase‐3 expression, and induces cell apoptosis.
Wenxin Guo +13 more
wiley +1 more source
SUPPORT FOR A NEUROPSYCHOLOGICAL MODEL OF SPIRITUALITY IN PERSONS WITH TRAUMATIC BRAIN INJURY
Recent research suggests that spiritual experiences are related to increased physiological activity of the frontal and temporal lobes and decreased activity of the right parietal lobe.
doaj +2 more sources
The medial temporal lobe and recognition memory.
H. Eichenbaum +2 more
semanticscholar +1 more source
Gephyrin Neurological Autoimmunity
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano +10 more
wiley +1 more source
Regional thalamic neuropathology in patients with hippocampal sclerosis and epilepsy: A postmortem study [PDF]
Purpose Clinical, experimental, and neuroimaging data all indicate that the thalamus is involved in the network of changes associated with temporal lobe epilepsy (TLE), particularly in association with hippocampal sclerosis (HS), with potential roles in ...
Martinian, L +3 more
core
Perivascular Spaces as Determinants of Amyloid, Tau, and Vascular Biomarker Progression
Objective Magnetic resonance imaging (MRI)‐visible enlarged perivascular spaces (PVS) are markers of cerebral small vessel disease (SVD) and aging, processes implicated in both neurodegenerative and cerebrovascular pathologies. However, longitudinal positron emission tomography (PET) studies examining PVS as a mechanism underlying Alzheimer's disease ...
Audrey Low +11 more
wiley +1 more source
Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia +20 more
wiley +2 more sources

