Publications by authors named "Y A Wilson"
Background: Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.
View Article and Find Full Text PDFA growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study.
View Article and Find Full Text PDFArticle Synopsis
- Nuclear pore complexes (NPCs) are critical for transporting materials in and out of the nucleus, and their assembly relies on a transmembrane protein called NDC1, which is essential for recruiting another protein, ALADIN, to the nuclear envelope.
- Biallelic mutations in the NDC1 gene have been identified in individuals with a triple A-like syndrome (excluding adrenal insufficiency), characterized by symptoms such as intellectual disability, motor impairment, and demyelinating polyneuropathy, which are similar to those seen in triple A syndrome caused by ALADIN mutations.
- Research indicates that these mutations hinder the proper function of NDC1, affecting its ability to recruit ALADIN, thereby leading to the observed neurological symptoms and
Background: The current study is a case study of a Māori (Indigenous people of New Zealand) organisation and their developmental processes in creating a kaumātua (older people) housing village for health and social wellbeing. This study identifies how a set of established co-design and culturally-centred principles were enacted when creating and developing the village.
Method: A mixed-method concurrent design was used in creating the case with interviews (n = 4), focus groups (N = 4 with 16 total participants) and survey questionnaires (n = 56) involving kaumātua and organisation members.