Self JE - Search Results

1

Self JE, Salman A, Hedley-Lewis MF. Self JE, et al. Pediatr Neurol. 2015 Sep;53(3):e11. doi: 10.1016/j.pediatrneurol.2015.05.005. Epub 2015 Jun 11. Pediatr Neurol. 2015. PMID: 26188952 No abstract available.

2

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.

3

Supranuclear eye movements and nystagmus in children: A review of the literature and guide to clinical examination, interpretation of findings and age-appropriate norms.

Osborne D, Theodorou M, Lee H, Ranger M, Hedley-Lewis M, Shawkat F, Harris CM, Self JE. Osborne D, et al. Among authors: self je. Eye (Lond). 2019 Feb;33(2):261-273. doi: 10.1038/s41433-018-0216-y. Epub 2018 Oct 23. Eye (Lond). 2019. PMID: 30353137 Free PMC article. Review.

4

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN).

Salman A, Hutton SB, Newall T, Scott JA, Griffiths HL, Lee H, Gomez-Nicola D, Lotery AJ, Self JE. Salman A, et al. Among authors: self je. Genes (Basel). 2020 Sep 30;11(10):1157. doi: 10.3390/genes11101157. Genes (Basel). 2020. PMID: 33007925 Free PMC article.

5

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.

Self J, Mercer C, Boon EM, Murugavel M, Shawkat F, Hammans S, Hodgkins P, Griffiths H, Lotery A. Self J, et al. Eye (Lond). 2009 Dec;23(12):2251-5. doi: 10.1038/eye.2008.389. Eye (Lond). 2009. PMID: 19182766

6

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: self je. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.

7

Evaluating the impact of information and support for people with nystagmus in the digital age: A patient and carer questionnaire study.

Gummer SL, Evans M, Cygan A, Osborne D, Griffiths HJ, Lee H, Self JE. Gummer SL, et al. Among authors: self je. Curr Eye Res. 2020 Jun;45(6):713-717. doi: 10.1080/02713683.2019.1696978. Epub 2019 Dec 26. Curr Eye Res. 2020. PMID: 31876191

8

Management of nystagmus in children: a review of the literature and current practice in UK specialist services.

Self JE, Dunn MJ, Erichsen JT, Gottlob I, Griffiths HJ, Harris C, Lee H, Owen J, Sanders J, Shawkat F, Theodorou M, Whittle JP; Nystagmus UK Eye research group (NUKE). Self JE, et al. Eye (Lond). 2020 Sep;34(9):1515-1534. doi: 10.1038/s41433-019-0741-3. Epub 2020 Jan 9. Eye (Lond). 2020. PMID: 31919431 Free PMC article. Review.

9

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. Ahmed MY, et al. Among authors: self je. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.

10

Impact of the COVID-19 pandemic on individuals with nystagmus and an exploration of public assumptions about the condition: an electronic questionnaire study.

Rennie K, Alagendran R, Lee H, Griffiths H; Nystagmus U. K. Eye Research Group (NUKE); Self J. Rennie K, et al. BMC Ophthalmol. 2022 Jun 20;22(1):268. doi: 10.1186/s12886-022-02484-x. BMC Ophthalmol. 2022. PMID: 35718783 Free PMC article.

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