Publications by authors named "C McWilliam"
Article Synopsis
- Neurogenetic disorders linked to mutations in spectrin genes lead to a wide range of symptoms, from peripheral nervous system issues to complex syndromes, emphasizing their diverse impact.
- An international study identified 14 families with unexplained distal weakness due to heterozygous loss-of-function variants, collecting standardized clinical and imaging data to analyze the condition further.
- The research found that all 20 patients exhibited early childhood onset of distal weakness with varying severity, along with associated foot abnormalities and muscle changes, confirming the link between these genetic variants and a new syndrome characterized by primarily myogenic effects.
The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on RAC1 activity. Currently, 32 cases with a TRIO gene alteration have been published in the medical literature.
View Article and Find Full Text PDFMohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic variants in the TIMM8A gene, including gene deletions and larger contiguous gene deletions. Some of the latter involve the neighboring gene BTK, resulting in agammaglobulinemia.
View Article and Find Full Text PDFBackground: Current dimensions of the primary health care research (PHC) context, including the need for contextualized research methods to address complex questions, and the co-creation of knowledge through partnerships with stakeholders - require PHC researchers to have a comprehensive set of skills for engaging effectively in high impact research.
Main Body: In 2002 we developed a unique program to respond to these needs - Transdisciplinary Understanding and Training on Research - Primary Health Care (TUTOR-PHC). The program's goals are to train a cadre of PHC researchers, clinicians, and decision makers in interdisciplinary research to aid them in tackling current and future challenges in PHC and in leading collaborative interdisciplinary research teams.