Jacques T - Search Results

1

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Among authors: jacques t. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.

2

Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI.

Kinsler VA, Paine SM, Anderson GW, Wijesekara DS, Sebire NJ, Chong WK, Harkness W, Aylett SE, Jacques TS. Kinsler VA, et al. Acta Neuropathol. 2012 Mar;123(3):453-6. doi: 10.1007/s00401-012-0945-0. Acta Neuropathol. 2012. PMID: 22294043 Free PMC article. No abstract available.

3

Fourth ventricle rosette-forming glioneuronal tumour in children: an unusual presentation in an 8-year-old patient, discussion and review of the literature.

Thurston B, Gunny R, Anderson G, Paine S, Thompson D, Jacques T, Ternier J. Thurston B, et al. Among authors: jacques t. Childs Nerv Syst. 2013 May;29(5):839-47. doi: 10.1007/s00381-012-1993-4. Epub 2012 Dec 14. Childs Nerv Syst. 2013. PMID: 23239254 Review.

4

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F. Scoto M, et al. Among authors: jacques ts. Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443021 Free PMC article.

5

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H. Hersheson J, et al. Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. Neurology. 2014. PMID: 25298308 Free PMC article. No abstract available.

6

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.

Wedatilake Y, Plagnol V, Anderson G, Paine SM, Clayton PT, Jacques TS, Rahman S. Wedatilake Y, et al. Among authors: jacques ts. Neuropathol Appl Neurobiol. 2015 Apr;41(3):399-402. doi: 10.1111/nan.12190. Neuropathol Appl Neurobiol. 2015. PMID: 25345337 Free PMC article. No abstract available.

7

Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

Moraitis E, Foley AR, Pilkington CA, Manzur AY, Quinlivan R, Jacques TS, Phadke R, Compeyrot-Lacassagne S. Moraitis E, et al. J Rheumatol. 2015 Jun;42(6):1064-6. doi: 10.3899/jrheum.140554. J Rheumatol. 2015. PMID: 26034236 Review. No abstract available.

8

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Shahni R, Cale CM, Anderson G, Osellame LD, Hambleton S, Jacques TS, Wedatilake Y, Taanman JW, Chan E, Qasim W, Plagnol V, Chalasani A, Duchen MR, Gilmour KC, Rahman S. Shahni R, et al. Brain. 2015 Oct;138(Pt 10):2834-46. doi: 10.1093/brain/awv182. Epub 2015 Jun 29. Brain. 2015. PMID: 26122121 Free PMC article.

9

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. Rajakulendran S, et al. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016. PLoS One. 2016. PMID: 26735972 Free PMC article.

10

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Reid ES, et al. Among authors: jacques ts. Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221. Brain. 2016. PMID: 27604308 Free PMC article.

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