Results 211 to 220 of about 3,605,025 (319)

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

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Editorial: Early detection and intervention for unilateral hearing loss and mild bilateral hearing loss in children: clinical practices and outcomes. [PDF]

Front Pediatr
Ching TYC, Fitzpatrick EM, Huttunen K, Löfkvist U, Kung C, Sung V.   +5 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Bilateral hearing loss caused by anti-NMDA receptor encephalitis with teratoma: A case report. [PDF]

Ibrain
Zhang GF, Liang T, Lv YK, Luo Z, Zhang J.   +4 more
europepmc   +1 more source

World Health Organization Healthy Ageing model applied to adults with cerebral palsy: A systematic review of reported intrinsic capacity measures

Developmental Medicine &Child Neurology, EarlyView.
This systematic review reports on quantitative measures of intrinsic capacity domains of the WHO Healthy Ageing model for adults with CP. Reports from 102 studies showed reduced locomotor, vitality andn possibly cognitive intrinsic capacity reserves for adults aged 30–45 years.
Woroud Alzaher, N. Susan Stott, Paul Hofman, Amy Hogan, Sian A Williams   +4 more
wiley   +1 more source

Motor difficulties, motor‐related health care, and associating factors in children born extremely preterm

Developmental Medicine &Child Neurology, EarlyView.
Significant motor difficulties in children born extremely preterm were common and appear insufficiently managed. Factors associated with receiving motor‐related health care suggest care is driven more by comorbidities than motor need. Our findings reveal a care gap and underscore the need for extended follow‐up and management of non‐CP motor ...
Daniela Nosko, Nelly Padilla, Katarina Svensson, Ulrika Ådén, Maria Örtqvist   +4 more
wiley   +1 more source

EEG activity as an objective measure of cognitive load during effortful listening: A study on pediatric subjects with bilateral, asymmetric sensorineural hearing loss.

International Journal of Pediatric Otorhinolaryngology, 2017
P. Marsella, A. Scorpecci, G. Cartocci, S. Giannantonio, A. Maglione, I. Venuti, Ambra Brizi, F. Babiloni   +7 more
semanticscholar   +1 more source

Digital Communication in Paediatric Surgery Care: Meeting Parents' and Children's Fundamental Care Needs at Home

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To explore the fundamental care needs of parents and children in relation to surgery for a congenital malformation, and the nursing care provided to support these needs through digital communication. Design A qualitative descriptive study.
Matilda Wester Fleur, Helena Hansson, Pernilla Stenström, Charlotte Castor   +3 more
wiley   +1 more source

Unreachable, Inescapable: Sustainable Development as Normative Camouflage in EU–MERCOSUR Trade

JCMS: Journal of Common Market Studies, EarlyView.
Abstract This article examines how sustainable development functions as a mechanism of stabilising asymmetry in North–South trade governance, using the European Union (EU)–Southern Common Market (MERCOSUR) agreement as a case study. Whilst sustainability is often framed as a normative good or institutional advance, the article shows instead how it ...
Asha Herten‐Crabb
wiley   +1 more source