Hayashi M - Search Results

1

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: hayashi m. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.

2

Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome.

Miyata R, Hayashi M, Itoh E. Miyata R, et al. Among authors: hayashi m. Am J Med Genet A. 2014 Dec;164A(12):3203-5. doi: 10.1002/ajmg.a.36753. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258354 No abstract available.

3

Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S, Hasegawa T, Doi S, Kohyama J. Miyata R, et al. Among authors: hayashi m. Am J Med Genet A. 2007 Jan 15;143A(2):189-94. doi: 10.1002/ajmg.a.31584. Am J Med Genet A. 2007. PMID: 17163544 Review.

4

Oxidative stress in developmental brain disorders.

Hayashi M, Miyata R, Tanuma N. Hayashi M, et al. Adv Exp Med Biol. 2012;724:278-90. doi: 10.1007/978-1-4614-0653-2_21. Adv Exp Med Biol. 2012. PMID: 22411250 Review.

5

Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader-Willi syndrome.

Hayashi M, Miyata R, Tanuma N. Hayashi M, et al. Neuropathology. 2011 Jun;31(3):280-5. doi: 10.1111/j.1440-1789.2010.01157.x. Epub 2010 Sep 29. Neuropathology. 2011. PMID: 20880323

6

Focal encephalopathy with recurrent episodes of epileptic status and cluster mimicking hemiconvulsion-hemiplegia-epilepsy syndrome.

Miyata R, Tanuma N, Hayashi M, Takahashi Y. Miyata R, et al. Among authors: hayashi m. Brain Dev. 2012 May;34(5):360-3. doi: 10.1016/j.braindev.2011.06.011. Epub 2011 Jul 12. Brain Dev. 2012. PMID: 21752561

7

Steroid therapy ameliorated cataplexy in three children with recent-onset of narcolepsy.

Miyata R, Hayashi M, Kohyama J, Honda M. Miyata R, et al. Among authors: hayashi m. Sleep Med. 2017 Jan;29:86-87. doi: 10.1016/j.sleep.2016.01.024. Epub 2016 Sep 29. Sleep Med. 2017. PMID: 27765531 No abstract available.

8

Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome.

Okoshi Y, Tanuma N, Miyata R, Hayashi M. Okoshi Y, et al. Among authors: hayashi m. Brain Dev. 2014 Nov;36(10):907-13. doi: 10.1016/j.braindev.2014.01.004. Epub 2014 Feb 3. Brain Dev. 2014. PMID: 24503446

9

Lesions of acetylcholine neurons in refractory epilepsy.

Hayashi M, Nakajima K, Miyata R, Tanuma N, Kodama T. Hayashi M, et al. ISRN Neurol. 2012;2012:404263. doi: 10.5402/2012/404263. Epub 2012 Aug 9. ISRN Neurol. 2012. PMID: 22934193 Free PMC article.

10

Circadian Rhythms of Oxidative Stress Markers and Melatonin Metabolite in Patients with Xeroderma Pigmentosum Group A.

Miyata R, Tanuma N, Sakuma H, Hayashi M. Miyata R, et al. Among authors: hayashi m. Oxid Med Cell Longev. 2016;2016:5741517. doi: 10.1155/2016/5741517. Epub 2016 Apr 26. Oxid Med Cell Longev. 2016. PMID: 27213030 Free PMC article.

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