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Page 1
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group. van Berge L, et al. Among authors: andrews pi. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: andrews pi. Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29. Brain. 2008. PMID: 18234694
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Among authors: andrews pi. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: andrews pi. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes.
Dale RC, Thomas T, Patel S, Han VX, Kothur K, Troedson C, Gupta S, Gill D, Malone S, Waak M, Calvert S, Subramanian G, Andrews PI, Kandula T, Menezes MP, Ardern-Holmes S, Mohammad S, Bandodkar S, Yan J. Dale RC, et al. Among authors: andrews pi. Ann Clin Transl Neurol. 2023 Aug;10(8):1417-1432. doi: 10.1002/acn3.51832. Epub 2023 Jun 20. Ann Clin Transl Neurol. 2023. PMID: 37340737 Free PMC article.
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.
Yan J, Kothur K, Mohammad S, Chung J, Patel S, Jones HF, Keating BA, Han VX, Webster R, Ardern-Holmes S, Antony J, Menezes MP, Tantsis E, Gill D, Gupta S, Kandula T, Sampaio H, Farrar MA, Troedson C, Andrews PI, Pillai SC, Heng B, Guillemin GJ, Guller A, Bandodkar S, Dale RC. Yan J, et al. Among authors: andrews pi. EBioMedicine. 2023 May;91:104589. doi: 10.1016/j.ebiom.2023.104589. Epub 2023 Apr 27. EBioMedicine. 2023. PMID: 37119734 Free PMC article.
Molecular typing of enteroviruses: comparing 5'UTR, VP1 and whole genome sequencing methods.
Gulholm T, Yeang M, Nguyen I, Andrews PI, Balgahom R, Beresford R, Branley J, Briest R, Britton P, Burrell R, Gehrig N, Kesson A, Kok J, Maley M, Newcombe J, Samarasekara H, Van Hal S, Varadhan H, Thapa K, Jones S, Newton P, Naing Z, Stelzer-Braid S, Rawlinson W. Gulholm T, et al. Among authors: andrews pi. Pathology. 2022 Oct;54(6):779-783. doi: 10.1016/j.pathol.2022.03.013. Epub 2022 Jun 21. Pathology. 2022. PMID: 35738943
Circulation of enterovirus D68 (EV-D68) causing respiratory illness in New South Wales, Australia, between August 2018 and November 2019.
Stelzer-Braid S, Yeang M, Britton PN, Kim KW, Varadhan H, Andrews PI, Briest R, Branley J, Balgahom R, Burrell R, Gehrig N, Newcombe J, Kesson A, Kok J, Maley M, Van Hal S, MacIntyre CR, Craig ME, Ferson MJ, Rawlinson WD. Stelzer-Braid S, et al. Among authors: andrews pi. Pathology. 2022 Oct;54(6):784-789. doi: 10.1016/j.pathol.2022.03.007. Epub 2022 Jun 15. Pathology. 2022. PMID: 35717412
Urgent computed tomography angiography in paediatric stroke.
Briest RC, Cheung AK, Kandula T, Cardamone M, Pillai SC, Sampaio H, Teoh HL, Webster RI, Wenderoth JD, Andrews PI. Briest RC, et al. Among authors: andrews pi. Dev Med Child Neurol. 2023 Jan;65(1):126-135. doi: 10.1111/dmcn.15285. Epub 2022 Jun 5. Dev Med Child Neurol. 2023. PMID: 35661998 Free PMC article.
49 results