Results 141 to 150 of about 33,292 (260)

Codesigned toolkit for multidisciplinary clinicians caring for children with severe neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate a multipronged toolkit (Connect, Pause and Reflect Toolkit [CPRT]) codesigned to support clinicians' professional fulfilment, meaning, and multidisciplinary connection when caring for children with severe neurological impairment. Method This study used convergent mixed‐methods design. Participants reviewed CPRT and completed an
Suzanne M. Nevin, Fleur A. Le Marne, Nancy E. Briggs, Erin Beavis, Rebecca Macintosh, Elizabeth E. Palmer, Rachel McLoughlin, CPR Advisory Group, Anna van Beek, Carola Wittekind, Carolyn Shalhoub, Christine Yuen‐Yan Lau, Christopher Elliot, David Rogers, Devika Wijetilaka, Elizabeth Argent, Elizabeth Cotterell, Erica Elizabeth Jacobson, Hugh McCarthy, Hugo Sampaio, Jacqueline Dalby‐Payne, Katrina Doyle, Kaustuv Bhattacharya, Michelle Lorentzos, Rob Slade, Ruth Evans, Sekhar Pillai, Shekeeb Mohammad, Susie Piper, Vanessa Sarkozy, Kylie Stark, Joanne Ging, Rani Sachdev, Kenneth Nunn, Ann Bye   +34 more
wiley   +1 more source

Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease. [PDF]

Am J Case Rep
Thi Tuong Vi N, Huu Thanh N, Thi Bien D, Hong Quan N.   +3 more
europepmc   +1 more source

A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes. [PDF]

Front Genet, 2023
Sena LS, Lemes RB, Furtado GV, Saraiva-Pereira ML, Jardim LB.   +4 more
europepmc   +1 more source

Meaningful engagement of lived experience in diabetes research and health service improvement: A rapid review of barriers to and enablers for community involvement among adults with type 2 diabetes

Diabetic Medicine, EarlyView.
Abstract Background Consumer and community involvement (CCI) is increasingly recognised as critical to advancing equity, relevance and impact in diabetes research and health service improvement. However, the meaningful and representative involvement of people with diabetes, particularly those with type 2 diabetes (T2D) and from diverse communities ...
J. E. Jordan, E. Litterbach, R. Geerling, E. P. Lam, T. Fitzgerald, R. Kelly, J. Manski‐Nankervis, M. Read, E. I. Ekinci, T. C. Skinner, J. Speight, E. Holmes‐Truscott   +11 more
wiley   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion. [PDF]

Int J Mol Sci
Asherah N, Lian M, Tan AS, Taguchi R, Chua P, Liu S, Lee CG, Chong SS.   +7 more
europepmc   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

Sequence Variants in Small CAG Repeat Expansions of the <i>HTT</i> Gene and Disease Onset and Progression in Huntington Disease. [PDF]

Neurology
Heinzmann A, Petit E, Dawson J, Kay C, Davoine CS, Méreaux JL, Black HF, Arning L, Nguyen HP, Coarelli G, Sayah S, Pariente J, Gérard F, Hurmic H, Hayden MR, Durr A.   +15 more
europepmc   +1 more source

Dietary modulation of antimicrobial peptides (HAMP and LEAP2) in Chinook salmon (Oncorhynchus tshawytscha) fed a phytobiotic functional diet: Integrated genomic characterisation and tissue‐specific expression

Journal of Fish Biology, EarlyView.
Abstract Antimicrobial peptides (AMPs) are key components of the innate immune system in fish, providing rapid protection against microbial pathogens. Among these, the liver‐expressed antimicrobial peptides (LEAPs), comprising LEAP‐1 (hepcidin; HAMP) and LEAP‐2, play central roles in host defence and iron regulation.
Roberta Marcoli, Jane E. Symonds, Seumas P. Walker, Cesar Lopez, Mark A. Preece, Christopher Battershill, Steve Bird   +6 more
wiley   +1 more source

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2 [PDF]

Eur J Hum Genet
Cooper-Knock J, Demaegd K, Kernan A, Vugt Jv, Harvey C, Moll T, O'Brien D, Gornall S, Drury L, Farhan S, Dion P, Rouleau G, Western A, Parsons P, Mclean B, Benatar M, Berg Lvd, Damme PV, Dankbaar JW, Hendrikse J, Koole W, de Bie C, Hobson E, Veldink J, de Warenburg Bv, Pasterkamp RJ, Rheenen Wv, Kirby J, Shaw P, Es Mv.   +29 more
europepmc   +2 more sources

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability. [PDF]

Int J Mol Sci
Deleanu R.
europepmc   +1 more source