‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

Autor: Diana Baralle, Susan Walker, Ramya Srinivasan, Sarah Davies, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, William Newman, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk

Publikováno v: BMJ Open, Vol 11, Iss 9 (2021)

Objectives This study aimed to explore the experiences of parents caring for children with intellectual and developmental disabilities (IDD) during the UK national lockdown in spring 2020, resulting from the COVID-19 pandemic.Design Participants were

Externí odkaz: https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2

Epigenotype-genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

Autor: Sunwoo Lee, Lara Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, Charu Deshpande, Nicola C Foulds, Sébastien Jacquemont, Khadije Jizi, Henriette Kiep, Alison Kraus, Katharina Löhner, Patrick J Morrison, Bernt Popp, Ruth Richardson, Arie Haeringen, Ezequiel Martin, Ana Toribio, Fudong Li, Wendy D Jones, Francis H Sansbury, Eamonn R Maher

Publikováno v: Human Molecular Genetics.

Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterised by developmental delay and congenital anomalies. The SETD1A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c4156a2751993f79ae8e45c172381816
https://doi.org/10.1093/hmg/ddad079

A randomized clinical trial of burst vs. spaced physical therapy for Parkinsons disease

Autor: Ka Loong Kelvin Au, Janine Lemos Melo Lobo Jofili Lopes, Alison Kraus, Kimberly Patton, Lisa Warren, Hanzhi Gao, Joshua K. Wong, Kathryn Moore, Jon B. Toledo, Tamara Stiep, Jessica Frey, Tracy Tholanikunnel, Christopher Hess, Leonardo Almeida, Adolfo Ramirez-Zamora, Michael S. Okun

Publikováno v: Parkinsonismrelated disorders. 97

The optimal timing for physical therapy (PT) delivery in Parkinson's disease (PD) is unknown. Our objective was to determine whether spacing physical therapy visits over a longer period of time is beneficial for maintenance of physical function in PD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef284642a1c18a44e6f93faca699fb5
https://pubmed.ncbi.nlm.nih.gov/35325665

Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study

Autor: Jeanne Wolstencroft, Francesca Wicks, Marie Erwood, ramya srinivasan, Amy Lafont, Husniye Timur, Zheng Ye, susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denver, Alice Watkins, Eleanor Kerry, Anna Lucock, Nasratullay Fatih, Sarah Wynn, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, paul brennan, alison Kraus, astrid weber, Myfanwy Rawson, diana Johnson, pradeep vasudevan, rachel harrison, denise williams, Eamonn Maher, Usha Kini, Virginia Clowes, Jana Gurasashvili, sahar mansour, muriel Holder-Espinasse, Amy Watford, julia rankin, diana baralle, annie procter, Tamsin Ford, kate baker, Samuel chawners, Jeremy Hall, Marianne van den Bree, Michael Owen, IMAGINE Consortium, David Skuse, F. Lucy Raymond

Publikováno v: SSRN Electronic Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::102c1819288512c04bfd5372ee4694f0
https://doi.org/10.2139/ssrn.4028542

Recurrent

Autor: Natalie B, Tan, Alistair T, Pagnamenta, Matteo P, Ferla, Jonathan, Gadian, Brian Hy, Chung, Marcus Cy, Chan, Jasmine Lf, Fung, Edwin, Cook, Stephen, Guter, Felix, Boschann, Andre, Heinen, Jens, Schallner, Cyril, Mignot, Boris, Keren, Sandra, Whalen, Catherine, Sarret, Dana, Mittag, Laurie, Demmer, Rachel, Stapleton, Ken, Saida, Naomichi, Matsumoto, Noriko, Miyake, Ruth, Sheffer, Hagar, Mor-Shaked, Christopher P, Barnett, Alicia B, Byrne, Hamish S, Scott, Alison, Kraus, Gerarda, Cappuccio, Nicola, Brunetti-Pierri, Raffaele, Iorio, Fabiola, Di Dato, Lynn S, Pais, Alison, Yeung, Tiong Y, Tan, Jenny C, Taylor, John, Christodoulou, Susan M, White

Publikováno v: Journal of medical genetics. 59(5)

Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. AWe discovered aWe identified 12 unrelated individuals wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b55174e0b53490f5ca4673011d77f422
https://pubmed.ncbi.nlm.nih.gov/34183358