Results 131 to 140 of about 25,924 (270)

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Peroral endoscopic myotomy in spastic esophageal disorders: Clinical outcomes and optimal approaches

Digestive Endoscopy, EarlyView.
Objectives The efficacy and safety of peroral endoscopic myotomy (POEM) for spastic esophageal disorders (SED), including type III achalasia, distal esophageal spasm (DES), and jackhammer esophagus (JE), remain uncertain due to its rarity. This study aimed to evaluate the clinical outcomes and optimal strategies for managing SED.
Tetsuya Tatsuta, Haruhiro Inoue, Yuto Shimamura, Miyuki Iwasaki, Kei Ushikubo, Kazuki Yamamoto, Yohei Nishikawa, Hidenori Tanaka, Ippei Tanaka, Satoshi Abiko, Mayo Tanabe, Kazuya Sumi, Manabu Onimaru, Boldbaatar Gantuya, Hirotake Sakuraba, Shinsaku Fukuda   +15 more
wiley   +1 more source

Muscles in Time: Learning to Understand Human Motion by Simulating Muscle Activations [PDF]

arXiv
Exploring the intricate dynamics between muscular and skeletal structures is pivotal for understanding human motion. This domain presents substantial challenges, primarily attributed to the intensive resources required for acquiring ground truth muscle activation data, resulting in a scarcity of datasets.
arxiv  

Reduced Muscle Fatigue Using Continuous Subthreshold Kilohertz Stimulation of Peripheral Nerves [PDF]

arXiv
Functional electrical stimulation (FES) is a prevalent technique commonly used to activate muscles in individuals with neurological disorders. Traditional FES strategies predominantly utilize low-frequency (LF) stimulation, which evokes synchronous action potentials, leading to rapid muscle fatigue.
arxiv  

Mobility device use in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aims To quantify the number and types of mobility devices used by children with cerebral palsy (CP) and explore the relationships between Gross Motor Functional Classification System (GMFCS) level, age, insurance, income, and number and types of devices. Method This was a secondary analysis of a cohort from a larger randomized controlled trial.
Elizabeth Maus, Ben Reader, Jill C. Heathcock   +2 more
wiley   +1 more source

Respiratory admissions and impact of COVID‐19 lockdowns for children with severe cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
In a population cohort of children with severe cerebral palsy, there was a reduced frequency of hospitalization for respiratory illness during periods of restricted social contact, implemented to reduce transmission of COVID‐19. This mirrored trends in the wider population and underlines the importance of community viral transmission in these children.
Susan M. Reid, Moya Vendeleur, Danielle Wurzel, Katherine Frayman, Joshua Osowicki, Kylie Crompton, Gordon Baikie, Giuliana Antolovich, Angela Guzys, Monica S. Cooper   +9 more
wiley   +1 more source

Efficacy of selective neurotomy for focal lower limb spasticity: a systematic review

Journal of Rehabilitation Medicine
Objective: Selective neurotomy has been suggested as a permanent treatment for focal spasticity. A systematic literature review was performed to investigate the efficacy of selective neurotomy regarding focal lower limb spasticity. Methods: A systematic
Danique J.M. Ploegmakers, Hanneke J.R. van Duijnhoven, Liron S. Duraku, Erkan Kurt, Alexander C.H. Geurts, Tim de Jong   +5 more
doaj   +1 more source

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

Epilepsia, EarlyView.
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin‐Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Geneviève Bernard, Ralitza Gavrilova, Rebecca Ahrens‐Nicklas, Gabrielle Lemire, Kym M. Boycott, Saadet Mercimek‐Andrews, Paolo Prontera, Cinzia Costa, Bojana Rakic, Cornelius F. Boerkoel, Stephanie Huynh, Linda Huh, Elliott Sherr, Emanuela Argilli, Juan Darío Ortigoza‐Escobar, Didac Casas‐Alba, Tania Nunes, David A. Koolen, Konrad Platzer, Marianne S. Khinchi, Elena Gardella, Christina D. Fenger, Rikke S. Møller, Allan Bayat   +28 more
wiley   +1 more source

Motor pathway evaluation by transcranial magnetic stimulation in Swedish horses with acquired equine polyneuropathy

Equine Veterinary Journal, EarlyView.
Abstract Background Acquired equine polyneuropathy in Nordic horses (AEP) is the most prevalent equine polyneuropathy in Norway, Sweden, and Finland and is characterised by pelvic limb knuckling due to metatarsophalangeal extension dysfunction.
Anna May, Siv Hanche‐Olsen, Lutz S. Goehring, Kaspar Matiasek, Karin Hultin Jäderlund, Yury Zablotski, Gittan Gröndahl   +6 more
wiley   +1 more source

Molecular mechanisms of hotspot variants in cytoskeletal β‐actin associated with Baraitser–Winter syndrome

The FEBS Journal, EarlyView.
Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley   +1 more source