Results 51 to 60 of about 158,757 (318)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Integrating Patient‐Reported Quality Measures in Systemic Lupus Erythematosus: Development of the American College of Rheumatology Implementation Guide

Arthritis Care &Research, EarlyView.
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah, Cherish Wilson, Christine Hariz, Christie M. Bartels, Shanthini Kasturi, Wambui Machua, Amy Bennett, Kate Chiseri, Allison Plitman, Starla Hairston Blanks, April Jorge, Patti Katz, Jinoos Yazdany, Shivani Garg   +13 more
wiley   +1 more source

Automated gaze-contingent objects elicit orientation following in 8-month-old infants [PDF]

, 2011
The current study tested whether the purely amodal cue of contingency elicit orientation following behaviour in 8-months-old infants. We presented 8-month-old infants with automated objects without human features that did or did not react contingently to
Gergely, G., Fani Deligianni, Senju, A., Atsushi Senju, Gergely Csibra, Senju, Atsushi, Csibra, G., Deligianni, F., György Gergely, Csibra, Gergely   +9 more
core   +1 more source

Facile Synthesis and Application of Dibutyl Aminophosphonate Polymer for Robust Uranium Capture from Concentrated Nitric Acid Process Streams

Advanced Materials Interfaces, EarlyView.
Dibutyl aminophosphonate (DiBAP) resin enables rapid, highly selec ve recovery of trace U(VI) from strongly acidic streams, with excellent acid stability, efficient column performance, and quan ta ve regenera on using ammonium carbonate. ABSTRACT The recovery of trace uranium from strongly acidic streams generated during uranium processing is of ...
Vinita Kumari, Ritesh Ruhela, Mahesh Tiwari, Deepak Tyagi, Sanjay Kumar Sahu   +4 more
wiley   +1 more source

Eye gaze and head gaze in collaborative games [PDF]

Proceedings of the 11th ACM Symposium on Eye Tracking Research & Applications, 2019
We present an investigation of sharing the focus of visual attention between two players in a collaborative game, so that where one player was looking was visible to the other. The difference between using head-gaze and eye-gaze to estimate the point of regard was studied, the motive being that recording head-gaze is easier and cheaper than eye-gaze ...
Oleg Spakov, Howell O. Istance, Kari-Jouko Räihä, Tiia Viitanen, Harri Siirtola   +4 more
openaire   +2 more sources

Gaze aversion as a cognitive load management strategy in autism spectrum disorder and Williams syndrome

, 2011
During face-to-face questioning typically developing children and adults use gaze aversion (GA), away from their questioner, when thinking. GA increases with question difficulty and improves the accuracy of responses.
Doherty-Sneddon, G, Riby, Deborah, Whittle, L, Gwyneth Doherty-Sneddon, Deborah M. Riby, Doherty-Sneddon, Gwyneth, Whittle, Lisa, Lisa Whittle, Riby, DM   +8 more
core   +1 more source

Precursors to social and communication difficulties in infants at-risk for autism: gaze following and attentional engagement [PDF]

, 2012
Whilst joint attention (JA) impairments in autism have been widely studied, little is known about the early development of gaze following, a precursor to establishing JA.
Johnson, Mark H., Charman, T., Bedford, Rachael, Senju, Atsushi, Green, Jonathan; id_orcid, Charman, Tony, Elsabbagh, M, Pickles, Andrew, Gliga, Teodora, Senju, A, ?, ?, Pickles, A., Johnson, M H, Gliga, T, Charman, T, Bedford, R, Elsabbagh, Mayada   +16 more
core   +1 more source

Natural gaze behavior as input modality for human-computer interaction

, 2022
S.161-183Natural gaze behavior during human-computer interaction provides valuable information about user's cognitive processes and intentions. Including it as an additional input modality therefore provides great potential to improve human-computer ...
Beyerer, Jürgen, Bader, T.
core   +1 more source

Vision‐Augmented Wearable Interfaces: Bioinspired Approaches for Realistic AI‐Human‐Machine Interaction

Advanced Materials Technologies, EarlyView.
This review presents recent progress in vision‐augmented wearable interfaces that combine artificial vision, soft wearable sensors, and exoskeletal robots. Inspired by biological visual systems, these technologies enable multimodal perception and intelligent human–machine interaction.
Jihun Lee, Gwuidong Ryu, Kisoo Kim, Feng Xu, Won Gu Lee   +4 more
wiley   +1 more source