Results 311 to 320 of about 166,105 (376)

Common data elements of cerebral palsy registries in Arabic‐speaking countries: A scoping review

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 3, Page 332-342, March 2026.
This scoping review mapped existing cerebral palsy registries in Arabic‐speaking countries, highlighting their core data elements and alignment with international registry frameworks to guide future regional harmonization. This scoping review is commented on by Mushta on pages 303–304 of this issue.
Nihad Ali Almasri, Carl J. Dunst
wiley   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

open access: yesJournal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica   +8 more
wiley   +1 more source

Psychometric Properties of Pain Scales in Inpatient Settings: An Umbrella Review

open access: yesJournal of Clinical Nursing, Volume 35, Issue 3, Page 1002-1036, March 2026.
ABSTRACT Aims To identify the pain assessment scales with the best psychometric properties to be used by nurses in an inpatient setting. Design Umbrella review. Methods A comprehensive search of four databases was conducted for systematic reviews published from July 2013 to November 2024, focusing on psychometric properties of pain scales used in ...
Fabio D'Agostino   +7 more
wiley   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz   +12 more
wiley   +1 more source

What stroke survivors say about living with upper limb spasticity and how they manage it. [PDF]

open access: yesAust Occup Ther J
Pike S   +5 more
europepmc   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

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