Yoshida T - Search Results

1

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Matsuoka T, Yoshida T, Kora K, Yano N, Taura Y, Nakamura T, Tozawa T, Mori J, Chiyonobu T. Matsuoka T, et al. Among authors: yoshida t. Hum Genome Var. 2024 Nov 7;11(1):39. doi: 10.1038/s41439-024-00297-6. Hum Genome Var. 2024. PMID: 39511141 Free PMC article.

2

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Taura Y, Tozawa T, Isoda K, Hirai S, Chiyonobu T, Yano N, Hayashi T, Yoshida T, Iehara T. Taura Y, et al. Among authors: yoshida t. Hum Genome Var. 2023 Aug 22;10(1):23. doi: 10.1038/s41439-023-00251-y. Hum Genome Var. 2023. PMID: 37604814 Free PMC article.

3

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Tozawa T, Nishimura A, Ueno T, Shikata A, Taura Y, Yoshida T, Nakagawa N, Wada T, Kosugi S, Uehara T, Takenouchi T, Kosaki K, Chiyonobu T. Tozawa T, et al. Among authors: yoshida t. Hum Genome Var. 2021 Jan 26;8(1):4. doi: 10.1038/s41439-021-00136-y. Hum Genome Var. 2021. PMID: 33500398 Free PMC article.

4

Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A.

Matsuura A, Tozawa T, Moroto M, Miyamoto Y, Kawabe Y, Zuiki M, Hasegawa T, Kayaki T, Yano N, Yoshida T, Chiyonobu T, Morimoto M, Iehara T. Matsuura A, et al. Among authors: yoshida t. J Inherit Metab Dis. 2024 Sep;47(5):1109-1111. doi: 10.1002/jimd.12775. Epub 2024 Jul 4. J Inherit Metab Dis. 2024. PMID: 38965861 No abstract available.

5

Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.

Nakajima K, Yoshida T, Nishikawa K, Kora K, Yokoyama A, Yano N, Hayashi T, Takaori T, Sasaki S, Maizuru K, Kikuchi T, Takita J. Nakajima K, et al. Among authors: yoshida t. Brain Dev. 2021 Sep;43(8):884-888. doi: 10.1016/j.braindev.2021.05.003. Epub 2021 May 27. Brain Dev. 2021. PMID: 34053793

6

A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.

Shiraishi K, Tsuburaya RS, Mukaida S, Yano N, Yoshida T. Shiraishi K, et al. Among authors: yoshida t. Pediatr Int. 2022 Jan;64(1):e15061. doi: 10.1111/ped.15061. Pediatr Int. 2022. PMID: 35510679 No abstract available.

7

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Yano N, Chong PF, Kojima KK, Miyoshi T, Luqman-Fatah A, Kimura Y, Kora K, Kayaki T, Maizuru K, Hayashi T, Yokoyama A, Ajiro M, Hagiwara M, Kondo T, Kira R, Takita J, Yoshida T. Yano N, et al. Among authors: yoshida t. J Med Genet. 2024 Sep 24;61(10):950-958. doi: 10.1136/jmg-2024-110056. J Med Genet. 2024. PMID: 38960580

8

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Hayashi T, Yano N, Kora K, Yokoyama A, Maizuru K, Kayaki T, Nishikawa K, Osawa M, Niwa A, Takenouchi T, Hijikata A, Shirai T, Suzuki H, Kosaki K, Saito MK, Takita J, Yoshida T. Hayashi T, et al. Among authors: yoshida t. Hum Mol Genet. 2023 May 5;32(10):1683-1697. doi: 10.1093/hmg/ddad008. Hum Mol Genet. 2023. PMID: 36645181 Free PMC article.

9

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Kouhashi M, Yukawa K, Yano N, Hagemeijer MC, Hirata S, Kambe D, Yokoyama A, Yoshida A, Kora K, de Ronde CJ, Vrieswijk S, van der Meijden E, Yoshida T, Yamashita H. Kouhashi M, et al. Among authors: yoshida t, yoshida a. Neurol Genet. 2024 May 29;10(3):e200161. doi: 10.1212/NXG.0000000000200161. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38831911 Free PMC article.

10

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?

Yoshida T, Awaya T, Shibata M, Kato T, Numabe H, Kobayashi J, Komatsu K, Heike T. Yoshida T, et al. Am J Med Genet A. 2014 Jul;164A(7):1830-4. doi: 10.1002/ajmg.a.36546. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733832 Free article.

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

11,228 results

Search Page

Filters