Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Paul Kenna"'
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1068 (2023)
Leber Hereditary Optic Neuropathy (LHON) affects a minority of carriers of causative mitochondrial DNA mutations. We investigated a cohort of patients with LHON, including m.11778G>A, m.3460G>A, m.14484T>C and DNAJC30 c.152A>G variants, and their asy
Externí odkaz:
https://doaj.org/article/af736c99729245c6b5809147785c0682
Autor:
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Gwyneth Jane Farrar
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding
Externí odkaz:
https://doaj.org/article/4b299d0b315044cd94b2e4bfd9480a83
Autor:
Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies usi
Externí odkaz:
https://doaj.org/article/9db300e736f6484298d2014ec8326ebe
Publikováno v:
Case Reports in Ophthalmology, Vol 6, Iss 1, Pp 24-29 (2015)
We describe the cases of 2 autistic children with ophthalmic and systemic manifestations of vitamin A deficiency due to food faddism. Although vitamin A deficiency is common in the developing world, reports in developed societies are rare. Our patien
Externí odkaz:
https://doaj.org/article/a7f92865bd814c5fa639d4d6ed06c711
Autor:
Arpad Palfi, Naomi Chadderton, Mary O'Reilly, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul Kenna, Sophia Millington-Ward, Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Externí odkaz:
https://doaj.org/article/f6fa74f399e04b7e8a9f988e52f52604
Autor:
Arpad Palfi, Naomi Chadderton, Mary O'Reilly, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul Kenna, Sophia Millington-Ward, Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)
As gene therapies for various forms of retinal degeneration progress toward human clinical trial, it will be essential to have a repertoire of safe and efficient vectors for gene delivery to the target cells. Recombinant adeno-associated virus (AAV)
Externí odkaz:
https://doaj.org/article/a385329107234f679f6928e877524be4
Autor:
Paul Kenna, Brett Millott
Publikováno v:
Enquiry and Project Based Learning ISBN: 9781315763309
This chapter details the story of how Self Organised Learning Environments (SOLEs) were introduced into two primary schools, Belle Vue and Aberfeldie in the northwestern suburbs of Melbourne, Australia. Belle Vue serves a multicultural community wher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::673b617ea649e89b9e0304bcd1ec6517
https://doi.org/10.4324/9781315763309-5
https://doi.org/10.4324/9781315763309-5
Publikováno v:
Journal of neurochemistry. 118(5)
Retinal degenerations such as Retinitis Pigmentosa remain difficult to treat given the diverse array of genes responsible for their aetiology. Rather than concentrate on specific genes, our focus is on identifying therapeutic avenues for the treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8cd5c8a3ce2332abc206b99114501ca0
https://pubmed.ncbi.nlm.nih.gov/21689103
https://pubmed.ncbi.nlm.nih.gov/21689103
Autor:
Siobhán A. Jordan, G. Jane Farrar, Paul Kenna, Marian M. Humphries, Denise M. Sheils, Rajendra Kumar-Singh, Elizabeth M. Sharp, Nuria Soriano, Carmen Ayuso, Javier Benitez, Peter Humphries
Publikováno v:
Nature genetics. 4(1)
Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f028c2f0f1b095d0d7e68c708f9d67af
https://pubmed.ncbi.nlm.nih.gov/8513323
https://pubmed.ncbi.nlm.nih.gov/8513323
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 109(10)
• Eight members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-guanine (C-to-G) transversion mutation in the second nucleotide of codon 58 of the rhodopsin gene, causing a substitution of the amino acid ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0bc2d59818d47bff8ebe5168ad5127
https://pubmed.ncbi.nlm.nih.gov/1929926
https://pubmed.ncbi.nlm.nih.gov/1929926