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Items: 8

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.

Neurol Genet. 2018 Dec 3;4(6):e295. doi: 10.1212/NXG.0000000000000295. eCollection 2018 Dec.

2.

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.

Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct.

3.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.

PMID:
30215711
4.

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.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
5.

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.

Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26.

PMID:
28847732
6.

A haplotype spanning P2X7R, P2X4R and CAMKK2 may mark susceptibility to pulmonary non-tuberculous mycobacterial disease.

Halstrom S, Cherry CL, Black M, Thomson R, Goullee H, Baltic S, Allcock R, Temple SEL, Price P.

Immunogenetics. 2017 May;69(5):287-293. doi: 10.1007/s00251-017-0972-z. Epub 2017 Feb 23.

PMID:
28233049
7.

Susceptibility to non-tuberculous mycobacterial disease is influenced by rs1518111 in IL10.

Halstrom S, Thomson R, Goullee H, Baltic S, Allcock R, Temple SE, Price P.

Hum Immunol. 2017 Apr;78(4):391-393. doi: 10.1016/j.humimm.2017.02.001. Epub 2017 Feb 4.

PMID:
28174026
8.

Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients.

Goullee H, Wadley AL, Cherry CL, Allcock RJ, Black M, Kamerman PR, Price P.

J Neurovirol. 2016 Aug;22(4):508-17. doi: 10.1007/s13365-015-0421-4. Epub 2016 Jan 19.

PMID:
26785644

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