Results 131 to 140 of about 227,565 (303)

Sound‐Based Assembly of Magnetically Actuated Soft Robots Toward Enhanced Release of Extracellular Vesicles

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Magnetic soft robots offer promise in biomedicine due to their wireless actuation and rapid response, but current fabrication methods are complex and have limited cellular compatibility. A new, contactless bioassembly strategy using hydrodynamic instabilities is introduced, enabling customizable, centimeter‐scale robots.
Wei Gao, Riccardo Tognato, Micaela Natta, Elena Della Bella, Alessandro Cianciosi, Tiziano Serra   +5 more
wiley   +1 more source

Three Synchronized, Miniaturized, Wireless Inertial Measurement Unit Sensors for Automated Gait and Balance Analysis System

Advanced Intelligent Systems, EarlyView.
This study presents a compact, three IMU wearable system that enables accurate motion capture and robust gait‐feature extraction, thereby supporting reliable machine learning‐based balance evaluation. Accurate assessment of balance is critical for fall prevention and targeted rehabilitation, particularly in older adults and individuals with ...
Seok‐Hoon Choi, Ki‐Hoon Kim, Heung Jin Park, Yuna Kim, Hyunjin Lee, Yu Bin Lee, Youn Joung Kang, Sungchul Huh, Min‐Ho Seo   +8 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Unmasking cerebellar disease: functional neurologic disorder as a precursor to spinocerebellar ataxia type 8. [PDF]

Neurol Sci
Jimsheleishvili S, Crandon D, Margolesky J.   +2 more
europepmc   +1 more source

Disease Progression in Multiple System Atrophy: The ASPIRE Multi‐Modal Biomarker Study

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression. Methods This 1‐year, multicenter, prospective study assessed clinical, neuroimaging (3T‐magnetic resonance imaging [MRI], dopamine transporter single‐photon emission ...
Margherita Fabbri, Natalia del Campo, Wassilios G. Meissner, Vanessa Rousseau, Agnès Sommet, Pierre Payoux, Pierre Gantet, Amel Drif, Hélène Catalá, Claire Thalamas, Christine Tranchant, Franck Durif, Ana Marques, Alexandre Eusebio, Luc Defebvre, Jean‐Christophe Corvol, Stéphane Thobois, Anthime Flaus, Anne‐Gaelle Corbille, Solène Frismand, Beverley Patterson, Alexandra Foubert‐Samier, Anne Pavy‐Le Traon, Germain Arribarat, Patrice Péran, Olivier Rascol, for the ASPIRE Study Group   +26 more
wiley   +1 more source

Turning Slowly Predicts Future Diagnosis of Parkinson's Disease: A Decade‐Long Longitudinal Analysis

Annals of Neurology, EarlyView.
Objective Wearable technology allows accurate measurement of turning while walking, with cross‐sectional studies indicating that difficulty turning presents even in preclinical phases of Parkinson's disease. The aim of our study was to quantify rate of change of turning performance in a cohort of older adults, and test whether turning decline can ...
Morad Elshehabi, Clint Hansen, Markus A. Hobert, Anna‐Katharina von Thaler, Kathrin Brockmann, Bhargav Tallapragada, Florian Metzger, Daniela Berg, Walter Maetzler, Brook Galna   +9 more
wiley   +1 more source

Effect of Home-based Telerehabilitation on Balance, Functional Mobility, and Quality of Life in Persons with Parkinson's Disease: A Systematic Review and Meta-Analysis. [PDF]

Int J Telerehabil
D'Souza AF, Jagadish A, D'Souza JV, Gandhi DBC, Jasti DB, Natarajan M.   +5 more
europepmc   +1 more source