Goullée H - Search Results

1

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M, Salari M, Moslemi AR, Kariminejad A, Davis M, Goullée H, Olsson B, Laing N, Tajsharghi H. Sedghi M, et al. Among authors: goullee h. Neurol Genet. 2018 Dec 3;4(6):e295. doi: 10.1212/NXG.0000000000000295. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584599 Free PMC article.

2

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H. Kariminejad A, et al. Among authors: goullee h. Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230. Brain. 2017. PMID: 29053766

3

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A. Lee RG, et al. Among authors: goullee h. Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct. Neurol Genet. 2018. PMID: 30338296 Free PMC article.

4

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: goullee h. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706 Free article.

5

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Beecroft SJ, Lamont PJ, Edwards S, Goullée H, Davis MR, Laing NG, Ravenscroft G. Beecroft SJ, et al. Among authors: goullee h. Mol Diagn Ther. 2020 Dec;24(6):641-652. doi: 10.1007/s40291-020-00495-2. Epub 2020 Sep 30. Mol Diagn Ther. 2020. PMID: 32997275 Review.

6

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H. Osborn DPS, et al. Among authors: goullee h. Genet Med. 2021 Apr;23(4):787-792. doi: 10.1038/s41436-020-01028-2. Epub 2020 Dec 8. Genet Med. 2021. PMID: 33288880 Free PMC article.

7

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: goullee h. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.

8

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.

Goullée H, Taylor RL, Forrest ARR, Laing NG, Ravenscroft G, Clayton JS. Goullée H, et al. Skelet Muscle. 2021 Sep 22;11(1):23. doi: 10.1186/s13395-021-00278-1. Skelet Muscle. 2021. PMID: 34551826 Free PMC article.

9

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

McNamara EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinós T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ. McNamara EL, et al. Among authors: goullee h. Hum Mol Genet. 2020 Jan 1;29(1):20-30. doi: 10.1093/hmg/ddz214. Hum Mol Genet. 2020. PMID: 31511858

10

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ. Boutilier JK, et al. Among authors: goullee h. Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26. Biochim Biophys Acta Gene Regul Mech. 2017. PMID: 28847732

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