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An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
Cell Rep Med. 2021 Jul 21;2(7):100345. doi: 10.1016/j.xcrm.2021.100345. eCollection 2021 Jul 20.
Cell Rep Med. 2021.
PMID: 34337561
Free PMC article.
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.
Wilson ER, Kugathasan U, Abramov AY, Clark AJ, Bennett DLH, Reilly MM, Greensmith L, Kalmar B.
Wilson ER, et al. Among authors: kugathasan u.
Neurobiol Dis. 2018 Sep;117:1-14. doi: 10.1016/j.nbd.2018.05.008. Epub 2018 May 18.
Neurobiol Dis. 2018.
PMID: 29778900
Free PMC article.
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Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM.
Kugathasan U, et al.
J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.
J Neurol Neurosurg Psychiatry. 2019.
PMID: 30995999
Free article.
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Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.
Spagnoli C, Kugathasan U, Brittain H, Boyd SG.
Spagnoli C, et al. Among authors: kugathasan u.
Brain Dev. 2015 Aug;37(7):704-13. doi: 10.1016/j.braindev.2014.10.007. Epub 2014 Oct 28.
Brain Dev. 2015.
PMID: 25459971
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Delay in the presentation of patients to hospital is the main factor for failure to adhere to the Royal College of Physicians' guidelines in the management of suspected subarachnoid haemorrhage.
Chu GS, Kugathasan U, Myint PK.
Chu GS, et al. Among authors: kugathasan u.
Clin Med (Lond). 2006 Sep-Oct;6(5):511-2. doi: 10.7861/clinmedicine.6-5-511.
Clin Med (Lond). 2006.
PMID: 17080906
Free PMC article.
No abstract available.
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