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Items: 7

1.

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.

Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19.

2.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
3.

T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes.

Ramji S, McCullagh G, Ram D, Vassallo G, Pavaine J.

J Neuroradiol. 2019 Oct 4. pii: S0150-9861(19)30449-3. doi: 10.1016/j.neurad.2019.09.003. [Epub ahead of print] Review.

PMID:
31589888
4.

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J.

Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20.

PMID:
30892814
5.

Intracranial Angiomatoid Fibrous Histiocytoma with EWSR1-CREB Family Fusions: A Report of 2 Pediatric Cases.

Konstantinidis A, Cheesman E, O'Sullivan J, Pavaine J, Avula S, Pizer B, Kilday JP.

World Neurosurg. 2019 Jun;126:113-119. doi: 10.1016/j.wneu.2019.02.107. Epub 2019 Mar 2.

PMID:
30831299
6.

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Broomfield A, Fletcher J, Hensman P, Wright R, Prunty H, Pavaine J, Jones SA.

JIMD Rep. 2018;39:55-62. doi: 10.1007/8904_2017_46. Epub 2017 Jul 20.

7.

Diffusion tensor imaging-based assessment of white matter tracts and visual-motor outcomes in very preterm neonates.

Pavaine J, Young JM, Morgan BR, Shroff M, Raybaud C, Taylor MJ.

Neuroradiology. 2016 Mar;58(3):301-10. doi: 10.1007/s00234-015-1625-2. Epub 2015 Dec 21.

PMID:
26687071

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