Goto Y - Search Results

1

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: goto y. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

2

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Among authors: goto yi. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743

3

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Mimaki M, et al. Among authors: goto y. Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111. Ann Neurol. 2010. PMID: 21194154

4

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.

Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y, Saitoh S. Takahashi Y, et al. Among authors: goto y. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):799-807. doi: 10.1002/ajmg.b.31221. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812100

5

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Sudo A, Honzawa S, Nonaka I, Goto YI. Sudo A, et al. J Hum Genet. 2004;49(2):92-96. doi: 10.1007/s10038-003-0116-1. Epub 2004 Jan 17. J Hum Genet. 2004. PMID: 14730434

6

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I. Yamasoba T, et al. Among authors: goto yi. Neuromuscul Disord. 2002 Jun;12(5):506-12. doi: 10.1016/s0960-8966(01)00329-7. Neuromuscul Disord. 2002. PMID: 12031626

7

Dysferlinopathy associated with rigid spine syndrome.

Nagashima T, Chuma T, Mano Y, Goto Y, Hayashi YK, Minami N, Nishino I, Nonaka I, Takahashi T, Sawa H, Aoki M, Nagashima K. Nagashima T, et al. Among authors: goto y. Neuropathology. 2004 Dec;24(4):341-6. doi: 10.1111/j.1440-1789.2004.00573.x. Neuropathology. 2004. PMID: 15641596

8

Psychosis and progressing dementia: presenting features of a mitochondriopathy.

Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, Katayama Y. Amemiya S, et al. Among authors: goto y. Neurology. 2000 Aug 22;55(4):600-1. doi: 10.1212/wnl.55.4.600. Neurology. 2000. PMID: 10953207 No abstract available.

9

Mitochondrial encephalomyopathy with 15915 mutation: clinical report.

Seki A, Nishino I, Goto Y, Maegaki Y, Koeda T. Seki A, et al. Among authors: goto y. Pediatr Neurol. 1997 Sep;17(2):161-4. doi: 10.1016/s0887-8994(97)00080-5. Pediatr Neurol. 1997. PMID: 9367299

10

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.

Kin T, Sugie K, Hirano M, Goto YI, Nishino I, Ueno S. Kin T, et al. J Hum Genet. 2006;51(6):555-558. doi: 10.1007/s10038-006-0397-2. Epub 2006 Apr 26. J Hum Genet. 2006. PMID: 16639504

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

4,658 results

Search Page

Filters