Search Results - "Bergen, Nicole"

Narrative Depictions of Working With Language Interpreters in Cross-Language Qualitative Research by Bergen, Nicole

“…The role of the interpreter in cross-language qualitative research warrants methodological consideration at the onset and throughout the research. This study…”
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Measuring health inequalities in the context of sustainable development goals by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Schlotheuber, Anne, Grove, John

“…Transforming our world: the 2030 agenda for sustainable development promotes the improvement of health equity, which entails ongoing monitoring of health…”
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Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes by Coughlan, Melinda T, Nguyen, Tuong-Vi, Penfold, Sally A, Higgins, Gavin C, Thallas-Bonke, Vicki, Tan, Sih Min, Van Bergen, Nicole J, Sourris, Karly C, Harcourt, Brooke E, Thorburn, David R, Trounce, Ian A, Cooper, Mark E, Forbes, Josephine M

“…Oxidative phosphorylation (OXPHOS) drives ATP production by mitochondria, which are dynamic organelles, constantly fusing and dividing to maintain kidney…”
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Novel CDKL5 targets identified in human iPSC-derived neurons by Massey, Sean, Ang, Ching-Seng, Davidson, Nadia M., Quigley, Anita, Rollo, Ben, Harris, Alexander R., Kapsa, Robert M. I., Christodoulou, John, Van Bergen, Nicole J.

“…CDKL5 Deficiency Disorder (CDD) is a debilitating epileptic encephalopathy disorder affecting young children with no effective treatments. CDD is caused by…”
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Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder by Massey, Sean, Quigley, Anita, Rochfort, Simone, Christodoulou, John, Van Bergen, Nicole J

“…Pediatric genetic epilepsies, such as CDKL5 Deficiency Disorder (CDD), are severely debilitating, with early-onset seizures occurring more than ten times daily…”
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Socioeconomic inequalities in risk factors for non communicable diseases in low-income and middle-income countries: results from the World Health Survey by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Kunst, Anton, Harper, Sam, Guthold, Regina, Rekve, Dag, d'Espaignet, Edouard Tursan, Naidoo, Nirmala, Chatterji, Somnath

“…Monitoring inequalities in non communicable disease risk factor prevalence can help to inform and target effective interventions. The prevalence of current…”
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Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy by Van Bergen, Nicole J, Crowston, Jonathan G, Craig, Jamie E, Burdon, Kathryn P, Kearns, Lisa S, Sharma, Shiwani, Hewitt, Alex W, Mackey, David A, Trounce, Ian A

“…Primary Open Angle Glaucoma (POAG) is a common neurodegenerative disease characterized by the selective and gradual loss of retinal ganglion cells (RGCs)…”
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Integrated multi-omics for rapid rare disease diagnosis on a national scale by Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza

“…Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the…”
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Socioeconomic inequality in the prevalence of noncommunicable diseases in low- and middle-income countries: results from the World Health Survey by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Mendis, Shanthi, Harper, Sam, Verdes, Emese, Kunst, Anton, Chatterji, Somnath

“…Noncommunicable diseases are an increasing health concern worldwide, but particularly in low- and middle-income countries. This study quantified and compared…”
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Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy by Van Bergen, Nicole J, Ellery, Molly, Christodoulou, John

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CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development by Van Bergen, Nicole J, Massey, Sean, Quigley, Anita, Rollo, Ben, Harris, Alexander R, Kapsa, Robert M I, Christodoulou, John

“…CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin-dependent kinase-like 5…”
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Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness by Van Bergen, Nicole J, Linster, Carole L, Christodoulou, John

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Strengthening and expanding health inequality monitoring for the advancement of health equity: a review of WHO resources and contributions by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Kirkby, Katherine, Schlotheuber, Anne

“…As part of its commitment to advance health equity, the World Health Organization (WHO) has a developed area of work to promote and strengthen health…”
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De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype by Francis, David, Lall, Paula, Ayres, Samantha, Van Bergen, Nicole J, Christodoulou, John, Brown, Natasha J, Kalitsis, Paul

“…Critical genes involved in embryonic development are often transcription factors, regulating many downstream genes. LMX1B is a homeobox gene that is involved…”
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Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient by Van Bergen, Nicole J, Walvekar, Adhish S, Linster, Carole L, Christodoulou, John

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Monitoring inequality: an emerging priority for health post-2015 by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Magar, Veronica

“…The Millennium Development Goals focused on poverty and development and reducing inequalities between countries. Progress was monitored through national…”
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Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency by Van Bergen, Nicole J., Walvekar, Adhish S., Patraskaki, Myrto, Sikora, Tim, Linster, Carole L., Christodoulou, John

“…The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox‐inactive derivatives designated NAD(P)HX. The highly conserved…”
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Loss of mitochondrial DNA‐encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly by Lim, Sze Chern, Hroudová, Jana, Van Bergen, Nicole J., Sanchez, M. Isabel G. Lopez, Trounce, Ian A., McKenzie, Matthew

“…ABSTRACT Mitochondrial complex I (NADH:ubiquinone oxidoreductase) must be assembled precisely from 45 protein subunits for it to function correctly. One of its…”
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Promoting health equity: WHO health inequality monitoring at global and national levels by Hosseinpoor, Ahmad Reza, Bergen, Nicole, Schlotheuber, Anne

“…Health equity is a priority in the post-2015 sustainable development agenda and other major health initiatives. The World Health Organization (WHO) has a…”
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Correction: Novel CDKL5 targets identified in human iPSC-derived neurons by Massey, Sean, Ang, Ching-Seng, Davidson, Nadia M., Quigley, Anita, Rollo, Ben, Harris, Alexander R., Kapsa, Robert M. I., Christodoulou, John, Van Bergen, Nicole J.

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