Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Autor: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a

Externí odkaz: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

Small airway dysfunction measured by impulse oscillometry is associated with exacerbations and poor symptom control in patients with asthma treated in a tertiary hospital subspecialist airways disease clinic

Autor: Dylan Beinart, Emily S. Y. Goh, Glen Boardman, Li Ping Chung

Publikováno v: Frontiers in Allergy, Vol 5 (2024)

IntroductionSmall airways dysfunction contributes to asthma pathophysiology and clinical outcomes including exacerbations and asthma control. Respiratory oscillometry is a simple, non-invasive and effort independent lung function test that provides v

Externí odkaz: https://doaj.org/article/34b1ec3b1cb7428c8e71c1a3069d1ad9

Exercise interveNtion outdoor proJect in the cOmmunitY – results from the ENJOY program for independence in dementia: a feasibility pilot randomised controlled trial

Autor: Pazit Levinger, Anita M. Y. Goh, Jeremy Dunn, Josephine Katite, Ritu Paudel, Adrian Onofrio, Frances Batchelor, Maya G. Panisset, Keith D. Hill

Publikováno v: BMC Geriatrics, Vol 23, Iss 1, Pp 1-16 (2023)

Abstract The Seniors Exercise Park program is an evidence-based outdoor physical and social activity program designed originally for older people with no cognitive impairment. This study aimed to pilot this program for people living with dementia in

Externí odkaz: https://doaj.org/article/8fb7724e150045c2b702b6d430184115

What constitutes ‘good’ home care for people with dementia? An investigation of the views of home care service recipients and providers

Autor: Anita M. Y. Goh, Meg Polacsek, Sue Malta, Colleen Doyle, Brendan Hallam, Luke Gahan, Lee Fay Low, Claudia Cooper, Gill Livingston, Anita Panayiotou, Samantha M. Loi, Maho Omori, Steven Savvas, Jason Burton, David Ames, Samuel C. Scherer, Nadia Chau, Stefanie Roberts, Margaret Winbolt, Frances Batchelor, Briony Dow

Publikováno v: BMC Geriatrics, Vol 22, Iss 1, Pp 1-13 (2022)

Abstract Background Our objective was to explore what people receiving and providing care consider to be ‘good’ in-home care for people living with dementia. Methods We conducted 36 in-depth interviews and two focus groups with key stakeholders i

Externí odkaz: https://doaj.org/article/6d2e8a5c4ff64d1b92fe861428c088cf

Promoting Independence Through quality dementia Care at Home (PITCH): a research protocol for a stepped-wedge cluster-randomised controlled trial

Autor: Steven Savvas, Anita M. Y. Goh, Frances Batchelor, Colleen Doyle, Erica Wise, Esther Tan, Anita Panayiotou, Sue Malta, Margaret Winbolt, Phillip Clarke, Jason Burton, Lee-Fay Low, Samantha M. Loi, Anne Fairhall, Meg Polacsek, Jay Stiles, Fenny Muliadi, Nadia Chau, Samuel Scherer, David Ames, Tanara Vieira Sousa, Briony Dow

Publikováno v: Trials, Vol 22, Iss 1, Pp 1-9 (2021)

Abstract Background Home care service providers are increasingly supporting clients living with dementia. Targeted and comprehensive dementia-specific training for home care staff is necessary to meet this need. This study evaluates a training progra

Externí odkaz: https://doaj.org/article/28fe7d02f7344ea69cefe4337f106e9d