Results 151 to 160 of about 879,135 (289)

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Environmental supportiveness, physical activity, and sedentary time in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Greater environmental supportiveness in home, school, and community settings was associated with reduced sedentary time among children with cerebral palsy, while home environmental supportiveness was related to increased light‐intensity physical activity.
Stina Oftedal, Ellen Armstrong, Gaela Kilgour, Matthew Ahmadi, Stewart G. Trost, Sean A. Horan, Christopher Carty, Denise Brookes, Roslyn N. Boyd, Leanne Sakzewski, Sarah E. Reedman   +10 more
wiley   +1 more source

Inspiratory muscle training improves rowing performance.

, 2007
Metadata only record. Article freely available on journal website: https://journals.lww.com/acsm-msse/Fulltext/2001/05000/Inspiratory_muscle_training_improves_rowing.20.aspxTo investigate the effects of a period of resistive inspiratory muscle training ...
McConnell, Alison K., Koutedakis, Yiannis, McNaughton, Lars R., Jones, David A., Backx, Karriane, Volianitis, Stefanos   +5 more
core   +1 more source

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. [PDF]

Eur J Neurol
Muhmann D, Haliloğlu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yıldız AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estevez-Arias B, Vicente EC, Nascimento A, Marina AD, Benito DN, Roos A.   +16 more
europepmc   +1 more source

Longitudinal speech and gross motor function development in children and adolescents with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley   +1 more source

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant. [PDF]

Oxf Med Case Reports
Alsadi MO, Heikal Y, Al-Hasani F, Al Khasawneh D, Nasab A, Hrizat H, Almoustafa F, Hussain B.   +7 more
europepmc   +1 more source

A Case of Benign Congenital Hypotonia with Unusual Muscle Pathology

NO TO HATATSU, 1973
INOKUCHI, Tetsuo, UMEZAKI, Hirotoshi, MIWA, Shinji, SANTA, Tetsuji   +3 more
openaire   +1 more source

Temporomandibular joint disorder and gross motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu, Baki Umut Tuğay, Muhammet Furkan Vatan   +2 more
wiley   +1 more source