Results 241 to 250 of about 121,621 (353)

Effects of Core Stability Training on Balance, Standing, and Gait in Children with Mild Cerebral Palsy: A Randomized Controlled Trial. [PDF]

Healthcare (Basel)
Mohamed N, Ibrahim MB, El-Agamy OA, Aldhahi MI, Elsebahy SY.   +4 more
europepmc   +1 more source

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

Ultrasound-Guided Botulinum Toxin Injections for Hand Spasticity: A Technical Guide for the Dorsal Approach. [PDF]

Toxins (Basel)
Malfitano C, Robecchi Majnardi A, Pesaresi A, Ricci V.   +3 more
europepmc   +1 more source

Muscle spasticity [PDF]

Anaesthesia, 1990
openaire   +2 more sources

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Hamstring contractures in children with spastic cerebral palsy result from a stiffer extracellular matrix and increased in vivo sarcomere length

Journal of Physiology, 2011
Lucas R. Smith, K. S. Lee, S. Ward, H. Chambers, R. Lieber   +4 more
semanticscholar   +1 more source

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free DNA Methylation Profiling

Clinical Genetics, EarlyView.
Hypothesis‐free DNA methylation profiling in a 66‐year‐old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142‐related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single‐patient epigenetic screening (right panel).
Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti, Konrad Platzer, Andrea Ciolfi, Rami Abou Jamra, Marco Tartaglia, Zeynep Tümer   +9 more
wiley   +1 more source

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay. [PDF]

BMC Med Genomics
Liu H, Li R, Chen C, Shang L, Bai Y, Chen D, Kong X, Li Q.   +7 more
europepmc   +1 more source

Isolated Block of Musculocutaneous and Perineal Nerves in the Management of Spasticity with Special Reference to the Use of a Nerve Stimulator

, 1967
AU A. KHAULJ, HENRY B. BEITS
openalex   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source