Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Emily Dawes"'
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Autor:
Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angyal, Thushan de Silva, Adrian Higginbottom, Pamela J Shaw, Laura Ferraiuolo, Darius Ebrahimi-Fakhari, Mimoun Azzouz
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)
Abstract Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency. SPG47 is characterised by progressive spastic paraplegia, global devel
Externí odkaz:
https://doaj.org/article/7525f462e89f4274b18148dc6adcb126
This short clinical report presents a reference data set for the Peter and the Cat Narrative Comprehension Assessment (NCA), for typically developing 5 to 7 year old children and those with Developmental Language Disorder. The data can be used by cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88f0ae405b7eb625f02fbf9801d0995f
https://doi.org/10.31234/osf.io/37kxa
https://doi.org/10.31234/osf.io/37kxa
Publikováno v:
Child Language Teaching and Therapy. 35:39-54
Although children with developmental language disorder demonstrate poor inferential comprehension, few studies have evaluated the effect of interventions to improve inferencing. This study aimed to investigate the efficacy of a small-group interventi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f970cc79fff68772ed8a25c3ba954a9c
https://doi.org/10.1177/0265659018815736
https://doi.org/10.1177/0265659018815736
Publikováno v:
International journal of speech-language pathology. 22(3)
Purpose: Oral discourse comprehension is a fundamental skill that is predictive of future reading comprehension. The ability to identify important semantic propositions, in a narrative text, and th...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2804de67330c3908fdbcee63e76db4fa
https://pubmed.ncbi.nlm.nih.gov/32366118
https://pubmed.ncbi.nlm.nih.gov/32366118
Publikováno v:
International journal of speech-language pathology. 21(3)
Purpose: The Squirrel Story Narrative Comprehension Assessment (NCA) was used to investigate the literal and inferential comprehension skills of young typically developing (TD) children aged between 4 and 6 years and to compare the performance of 5-y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de172864dbf6f594871edf77b1269da6
https://pubmed.ncbi.nlm.nih.gov/31159597
https://pubmed.ncbi.nlm.nih.gov/31159597
Publikováno v:
Australian Psychologist. 50:362-371
Objective This study aimed to provide a comprehensive working memory profile of a group of children with established poor reading ability. Methods Participants included a group of established “poor readers” and a group of age- and gender-matched
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f00e1e8c82a862cc9d504b6316392671
https://doi.org/10.1111/ap.12120
https://doi.org/10.1111/ap.12120
Publikováno v:
International journal of languagecommunication disorders. 53(6)
BACKGROUND Children with developmental language disorder (DLD) demonstrate poor oral inferential comprehension. Research investigating the skills that underpin oral inferential comprehension in young children with DLD is necessary in order to better
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4947c8a6b78cbe5abaf8119107efd3e
https://pubmed.ncbi.nlm.nih.gov/30294839
https://pubmed.ncbi.nlm.nih.gov/30294839