Results 191 to 200 of about 52,949 (260)

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

Clinical 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, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Whisking and locomotion are jointly represented in superior colliculus neurons. [PDF]

PLoS Biol
Chinta S, Pluta SR.
europepmc   +1 more source

Adaptive Sampling for BRDF Acquisition

Computer Graphics Forum, EarlyView.
We propose a data‐driven adaptive sampling strategy that predicts the optimal sampling pattern and count for BRDF acquisition from a single image, reducing capture time while preserving quality. Abstract The bidirectional reflectance distribution function (BRDF) describes the ratio of incoming radiance to outgoing radiance for all possible pairs of ...
Behnaz Kavoosighafi, Saghi Hajisharif, Jonas Unger, Ehsan Miandji   +3 more
wiley   +1 more source

Hybrid Window Decoding for Joint Source Channel Anytime Coding System. [PDF]

Entropy (Basel)
Deng L, Shi Z, Wang Y, Yu X, Guan YL, Xu Z.   +5 more
europepmc   +1 more source

Zebrafish models of developmental epileptic encephalopathy accurately reflect clinical electrographic biomarkers

Epilepsia, EarlyView.
Abstract Objective Developmental epileptic encephalopathies (DEEs) are epilepsy conditions characterized by significant severity and treatment challenges. Spectral components of the encephalogram (EEG) may provide a valuable biomarker of epileptic severity.
Paige Whyte‐Fagundes, Joseane Righes Marafiga, Bingyao Zhu, Scott C. Baraban   +3 more
wiley   +1 more source

The impact of functional correlations on task information coding. [PDF]

Netw Neurosci
Ito T, Murray JD.
europepmc   +1 more source

Lung organoids as a human system for Mycobacteria infection modeling and drug testing

The FEBS Journal, EarlyView.
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza, Romain Vergé, Raoul Mazars, Laurence Berry, Céline Cougoule   +4 more
wiley   +1 more source

Open LLM-based actionable incidental finding extraction from [¹⁸F]fluorodeoxyglucose PET-CT radiology reports. [PDF]

Front Digit Health
Barlow SH, Chicklore S, He Y, Ourselin S, Wagner T, Barnes A, Cook GJR.   +6 more
europepmc   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Short-Packet Communications in Multi-Antenna Cooperative NOMA Networks with Hardware Impairments. [PDF]

Sensors (Basel)
Zhang X, Chen D, Hu J, Sun X, Wang B, Zhang D.   +5 more
europepmc   +1 more source