Results 131 to 140 of about 107,010 (279)

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

Orphanet Journal of Rare Diseases
Highlights This is the largest study to date to investigate the acquisition, retention and loss of functional skills in MECP2 duplication syndrome (MDS). Females were more likely than males to acquire gross and fine motor skills.
Daniel Ta, Jenny Downs, Gareth Baynam, Peter Richmond, Andrew Wilson, Helen Leonard   +5 more
doaj   +1 more source

Polarization‐resolved femtosecond Vis/IR spectroscopy tailored for resolving weak signals in biological samples using minimal sample volume

FEBS Open Bio, EarlyView.
Unique biological samples, such as site‐specific mutant proteins, are available only in limited quantities. Here, we present a polarization‐resolved transient infrared spectroscopy setup with referencing to improve signal‐to‐noise tailored towards tracing small signals. We provide an overview of characterizing the excitation conditions for polarization‐
Clark Zahn, Karsten Heyne
wiley   +1 more source

A light‐triggered Time‐Resolved X‐ray Solution Scattering (TR‐XSS) workflow with application to protein conformational dynamics

FEBS Open Bio, EarlyView.
Time‐resolved X‐ray solution scattering captures how proteins change shape in real time under near‐native conditions. This article presents a practical workflow for light‐triggered TR‐XSS experiments, from data collection to structural refinement. Using a calcium‐transporting membrane protein as an example, the approach can be broadly applied to study ...
Fatemeh Sabzian‐Molaei, Fredrik Orädd, Konstantinos Magkakis, Magnus Andersson   +3 more
wiley   +1 more source

Single‐molecule DNA flow‐stretch assays for high‐throughput DNA–protein interaction studies

FEBS Open Bio, EarlyView.
We describe an optimised single‐molecule DNA flow‐stretch assay that visualises DNA–protein interactions in real time. Linear DNA fragments are tethered to a surface and stretched by buffer flow for fluorescence imaging. Using λ and φX174 DNA, this protocol enhances reproducibility and accessibility, providing a versatile approach for studying diverse ...
Ayush Kumar Ganguli, Mohammad Nour Alsamsam, Ugnė Bagdonaitė, Van Truc Vu, Chun‐Jen Huang, Polina Kuzhir, Mindaugas Zaremba, Aurimas Kopūstas, Marijonas Tutkus   +8 more
wiley   +1 more source

Management of Functional Seizures Practice Guideline Executive Summary Report of the AAN Guidelines Subcommittee

This guideline provides evidence-based recommendations for clinicians, patients, and other stakeholders on the management of functional seizures. Following a National Academy of Medicine-compliant process, a multidisciplinary panel conducted a systematic
Swanson, Sara, Fobian, Aaron, Stone, Jon, Tolchin, Benjamin, Takahashi, Courtney, Goldstein, Laura; id_orcid, L’Erario, , Z Paige, Botchway-Doe, Kylie, Hua, Le, Oskoui, Maryam, Dorman, James, Reuber, Markus, Perez, David, Hamel, Katie, Silsbee, Heather, Mildon, Bridget, Gilli, Peter, LaFrance, W Curt   +17 more
core   +1 more source

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

, 2009
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG.
Sander, Thomas, Eeg-Olofsson, O, Everett, KV, Everett, Kate V., Friis, Mogens Laue, Dulac, Olivier, Siren, Auli, Dooley, Joseph M, Aschauer, H, Kjeldsen, MJ, Dulac, O, Wirrell, Elaine, Covanis, Athanasios, Brouwer, Oebele, Covanis, A, Sirén, A, Aicardi, Jean, Gardiner, RM, Durner, Martina, Robinson, R, Nabbout, Rima, Gardiner, R. Mark, McKeigue, Paul, Sander, T, Dooley, JM, Gardiner, R Mark, McKeigue, Paul; id_orcid, Chioza, BA, Aschauer, Harald, Everett, Kate V, Eeg-Olofsson, Orvar, Brouwer, O, Nabbout, R, McKeigue, P, Robinson, Robert, Chioza, Barry A., Dooley, Joseph M., Nashef, L, Feucht, Martha, Feucht, M, Guerrini, R, Aicardi, J, Durner, M, Nashef, Lina, Wirrell, E, Callenbach, P, Guerrini, Renzo, Callenbach, Petra, Chioza, Barry A, Friis, ML, Kjeldsen, Marianne Juel, Eeg-Olofsson, Orvar,   +51 more
core   +1 more source

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Suggestive seizure induction techniques in paediatric functional/dissociative seizures: an extensive protocol

Epilepsy & Behavior
Functional/Dissociative Seizures (FDS) are complex neuropsychiatric events frequently misdiagnosed as epilepsy, particularly in children and adolescents. Accurate and timely diagnosis remains challenging, especially when standard or prolonged EEG recordings fail to capture typical episodes.
Baglioni V., Esposito D., Cesario S., Gigliotti F., Di Santo F., Daniel S. K., Lentini G., Mastrangelo M., Pisani F.   +8 more
openaire   +2 more sources

Screening and epitope characterization of Nidogen‐2‐specific nanobodies

FEBS Open Bio, EarlyView.
Camel immunization and phage display were employed to generate high‐affinity VHH nanobodies against Nidogen‐2. After library construction, biopanning, ELISA screening, sequencing, and recombinant expression, selected nanobodies were purified and characterized, leading to the preliminary exploration of a nanobody‐based sandwich ELISA for specific ...
Jianchuan Wen, Qianqian Cui, Zhongyun Lan, Yingjun Wang, Shuaiying Zhao, Wenxuan Feng, Yunfeng Liu, Qiting Huang, Dongna Zhang, Jianfeng Xu   +9 more
wiley   +1 more source

Rapid screening of staphylokinase protein variants using an unpurified cell‐free expression system

FEBS Open Bio, EarlyView.
An unpurified cell‐free protein synthesis (CFPS) platform enables rapid functional screening of staphylokinase variants. Direct plasminogen‐activation assays performed in microplate format provide real‐time activity readouts, allowing rapid identification and ranking of variants with improved or reduced fibrinolytic activity without protein ...
Maria Tomková, Veronika Hovanová, Jiri Damborsky, Erik Sedlák   +3 more
wiley   +1 more source