Results 161 to 170 of about 3,725,865 (331)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

IMMUNOPHENOTYPIC CHARACTERISTICS AND IN VITRO CLONAL EXPANSION CAPACITY OF CURCULATING AND BONE MARROW DERIVED ENDOTHELIAL CELLS FROM HEMATOLOGICAL DISORDERS: A COMPARISON WITH ENDOTHELIAL LIKE

, 2006
iMMUNOPHENOTYPIC CHARACTERISTICS AND IN VITRO CLONAL EXPANSION CAPACITY OF CURCULATING AND BONE MARROW DERIVED ENDOTHELIAL CELLS FROM HEMATOLOGICAL DISORDERS: A COMPARISON ...
LANZA, Francesco, Moretti S., Ferrari L., CUNEO, Antonio, Moretti S, Ferrari L, CAMPIONI, Diana   +6 more
core   +1 more source

Temporal Divergence of True and False Alarms in Pediatric Nocturnal Seizure Monitoring

Annals of Clinical and Translational Neurology, EarlyView.
The early‐morning surge in false seizure alarms supports exploring time‐ or state‐dependent detection thresholds to reduce false detections. ABSTRACT Seizure detection devices can improve the safety of children with epilepsy, yet high false alarms limit their clinical applicability.
Mohammad Shahbakhti, Anemoon T. Bosch, Job van der Palen, Franciscus S. Leijten, Johannes P. van Dijk, Richard H. C. Lazeron, Roland D. Thijs   +6 more
wiley   +1 more source

[[alternative]]Clonal restriction of the expansion of antigen-specific CD8+ memory T cells by transforming growth factor-β

, 2008
[[abstract]]Recent evidence showed that transforming growth factor-β (TGF-β) regulates the global expansion of CD8+ T cells, which are CD44 hi, a marker for memory cells.
Cheng, ML;Chen, HW;Tsai, JP;Lee, YP;Shih, YC;Chang, CM;Ting, CC
core   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Clonal CD8+ T cell expansion in CAVD

Background: Calcific aortic valve disease (CAVD) is a complex cardiovascular pathology, culminating in aortic stenosis, heart failure and premature mortality, with no comprehensive treatment strategy, except invasive valve replacement. While inflammation
Bartoli-Leonard, Francesca
core   +1 more source

Integrated one- and two-photon imaging platform reveals clonal expansion as a major driver of mutation load

, 2008
The clonal expansion of mutant cells is hypothesized to be an important first step in cancer formation. To understand the earliest stages of tumorigenesis, a method to identify and analyze clonal expansion is needed.
Wiktor-Brown, Dominika M., So, Peter T. C., Nam, YoonSung, Engelward, Bevin P., Kwon, Hyuk-Sang   +4 more
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Document expansion for image retrieval [PDF]

, 2010
Successful information retrieval requires effective matching between the user's search request and the contents of relevant documents. Often the request entered by a user may not use the same topic relevant terms as the authors' of the documents.
Min, Jinming, Leveling, Johannes, Jones, Gareth J.F., Zhou, Dong   +3 more
core   +2 more sources