Jacques TS - Search Results

1

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. Among authors: jacques ts. Brain. 2015 Oct;138(Pt 10):2834-46. doi: 10.1093/brain/awv182. Epub 2015 Jun 29. Brain. 2015. PMID: 26122121 Free PMC 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. Among authors: jacques ts. 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. 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

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R. McTague A, et al. Among authors: jacques ts. Brain. 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. Brain. 2013. PMID: 23599387 Free PMC article.

6

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis.

Yasin SA, Ali AM, Tata M, Picker SR, Anderson GW, Latimer-Bowman E, Nicholson SL, Harkness W, Cross JH, Paine SM, Jacques TS. Yasin SA, et al. Among authors: jacques ts. Acta Neuropathol. 2013 Aug;126(2):207-18. doi: 10.1007/s00401-013-1135-4. Epub 2013 Jun 2. Acta Neuropathol. 2013. PMID: 23728790

7

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. Among authors: jacques ts. 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.

8

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.

9

Astrovirus VA1/HMO-C: an increasingly recognized neurotropic pathogen in immunocompromised patients.

Brown JR, Morfopoulou S, Hubb J, Emmett WA, Ip W, Shah D, Brooks T, Paine SM, Anderson G, Virasami A, Tong CY, Clark DA, Plagnol V, Jacques TS, Qasim W, Hubank M, Breuer J. Brown JR, et al. Among authors: jacques ts. Clin Infect Dis. 2015 Mar 15;60(6):881-8. doi: 10.1093/cid/ciu940. Epub 2015 Jan 7. Clin Infect Dis. 2015. PMID: 25572899 Free PMC article.

10

Human IFNAR2 deficiency: Lessons for antiviral immunity.

Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S. Duncan CJ, et al. Among authors: jacques ts. Sci Transl Med. 2015 Sep 30;7(307):307ra154. doi: 10.1126/scitranslmed.aac4227. Sci Transl Med. 2015. PMID: 26424569 Free PMC article.

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