Horrocks I - Search Results

1

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Among authors: horrocks i. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.

2

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Among authors: horrocks i. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.

3

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F; UK NorthStar Clinical Network. Ricotti V, et al. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):149-55. doi: 10.1136/jnnp-2014-309405. Epub 2015 Mar 2. J Neurol Neurosurg Psychiatry. 2016. PMID: 25733532 Free PMC article.

4

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Oliwa A, Joseph S, Millar E, Horrocks I, Penman D, Baptista J, Cullup T, Constantinou P, Heuchan AM, Hamilton R, Longman C. Oliwa A, et al. Among authors: horrocks i. J Neuromuscul Dis. 2022;9(6):803-808. doi: 10.3233/JND-220818. J Neuromuscul Dis. 2022. PMID: 36057830 Free article.

5

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I. Woods CG, et al. Among authors: horrocks i. Eur J Hum Genet. 2015 May;23(5):561-3. doi: 10.1038/ejhg.2014.166. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118027 Free PMC article. No abstract available.

6

A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians.

Choong Wong S, Joseph S, Capaldi N, Marco MD, Dunne J, Guglieri M, Horrocks I, Straub V, Faisal Ahmed S; UK NorthStar Clinical Network. Choong Wong S, et al. Among authors: horrocks i. Clin Trials. 2021 Feb;18(1):39-50. doi: 10.1177/1740774520958395. Epub 2020 Oct 4. Clin Trials. 2021. PMID: 33012180

7

Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database.

Joseph S, Wang C, Bushby K, Guglieri M, Horrocks I, Straub V, Ahmed SF, Wong SC; UK NorthStar Clinical Network. Joseph S, et al. Among authors: horrocks i. JAMA Neurol. 2019 Jun 1;76(6):701-709. doi: 10.1001/jamaneurol.2019.0242. JAMA Neurol. 2019. PMID: 30855644 Free PMC article.

8

Endocrine and Bone Monitoring in Boys with Duchenne Muscular Dystrophy; Do we adhere to the standards of care?

Henderson A, Harley G, Horrocks I, Joseph S, Dunne J, Pysden K, Mushtaq T, Wong SC, Childs AM. Henderson A, et al. Among authors: horrocks i. J Neuromuscul Dis. 2023;10(6):1143-1144. doi: 10.3233/JND-230144. J Neuromuscul Dis. 2023. PMID: 37927273 Free PMC article. No abstract available.

9

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F; North Star Clinical Network for Paediatric Neuromuscular Disease. Mayhew A, et al. Dev Med Child Neurol. 2011 Jun;53(6):535-42. doi: 10.1111/j.1469-8749.2011.03939.x. Epub 2011 Mar 17. Dev Med Child Neurol. 2011. PMID: 21410696 Free article.

10

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.

Zambon AA, Ayyar Gupta V, Ridout D, Manzur AY, Baranello G, Trucco F, Muntoni F; UK Northstar Clinical Network. Zambon AA, et al. Dev Med Child Neurol. 2022 Aug;64(8):979-988. doi: 10.1111/dmcn.15176. Epub 2022 Feb 14. Dev Med Child Neurol. 2022. PMID: 35385138 Free PMC article.

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