Results 181 to 190 of about 894,794 (275)

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Exoskeleton‐assisted physiotherapy in school and outpatient contexts for minimally ambulant children with cerebral palsy

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1580-1592, November 2026.
Abstract Aim To assess the clinical feasibility of lower‐limb pediatric exoskeleton‐assisted (Trexo Plus) physiotherapy for minimally ambulatory children at an outpatient center and a primary school. Secondary aims were to assess associated functional and goal‐based outcomes before and after Trexo‐based physiotherapy.
Stefanie S. Bradley, Tom Chau, Anne Kawamura, F. Virginia Wright   +3 more
wiley   +1 more source

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1570-1579, November 2026.
Variability of motor imagery performance in children with cerebral palsy. This original article is commented by Souto on pages 1494–1495 of this issue. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the ...
Inbar Breuer Asher, Dafna Guttman, Pavel Goldstein, Tal Krasovsky   +3 more
wiley   +1 more source

The F‐words for childhood development in community‐based physical activity programmes for children with physical disabilities: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1501-1513, November 2026.
This scoping review identifies intervention ingredients that address the F‐words for childhood development in community‐based physical activity programs for children with physical disabilities. An electronic database and hand search of the international literature was conducted.
Belinda Munroe, Sarah Ashcroft, Suzanne Lock, Kylie Turner, Belinda Arnold, Sarah Reedman   +5 more
wiley   +1 more source

Understanding Risks in the Care of People With Dementia in Acute Hospital Settings: Definitions, Types and Management Strategies—A Scoping Review

Journal of Clinical Nursing, Volume 35, Issue 11, Page 4708-4724, November 2026.
ABSTRACT Aims This scoping review explores how risk is defined, managed and mitigated in the care of people with dementia in acute hospital settings. Methods This scoping review followed Arksesy and O'Malley's five‐stage framework (2005) and was guided by the Joanna Briggs Institute methodology.
Ashitha Bhaskaran, Kate Irving, Eileen Courtney, Bert Gordijn, Marie Cantwell   +4 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2166-2171, October 2026.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Isabella Pfundt, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +123 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Comparison of fascial thickness in hemiplegic and non-hemiplegic upper extremities with ultrasonographic imaging: a cross-sectional study. [PDF]

J Rehabil Med
Höbek Başer N, Aydın B, Karadağ Saygı E, Yağcı İ, Midi İ, Keniş Coşkun Ö.   +5 more
europepmc   +1 more source

Efficacy and safety of cannabinoids in the treatment of spasticity in multiple sclerosis: A systematic review of randomized clinical trials

British Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3288-3300, October 2026.
Aims This work aimed to evaluate the efficacy and safety of cannabinoids for the treatment of MS‐related spasticity. Methods Systematic searches were conducted in PubMed, EMBASE, and LILACS on 2 December 2025. Randomized controlled trials evaluating natural or synthetic cannabinoids for MS‐related spasticity were included.
Letícia Hamm‐Buiar, Daniela Gorski, Marcela Harumi Kagueiama, Astrid Wiens   +3 more
wiley   +1 more source