Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,263 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Among authors: okazaki s. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 Free PMC article.
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. Itoh M, et al. Among authors: okazaki t, okazaki s. Brain. 2019 Mar 1;142(3):560-573. doi: 10.1093/brain/awz001. Brain. 2019. PMID: 30715177
A case of infantile Tay-Sachs disease with late onset spasms.
Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H. Yamamoto N, et al. Among authors: okazaki s. Brain Dev. 2021 May;43(5):661-665. doi: 10.1016/j.braindev.2020.12.016. Epub 2021 Jan 20. Brain Dev. 2021. PMID: 33483101
MELAS: a nationwide prospective cohort study of 96 patients in Japan.
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan. Yatsuga S, et al. Biochim Biophys Acta. 2012 May;1820(5):619-24. doi: 10.1016/j.bbagen.2011.03.015. Epub 2011 Apr 2. Biochim Biophys Acta. 2012. PMID: 21443929
Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma.
Kimura R, Ishii Y, Tomiwa K, Awaya T, Nakata M, Kato T, Okazaki S, Heike T, Hagiwara M. Kimura R, et al. Among authors: okazaki s. Front Genet. 2018 Sep 4;9:368. doi: 10.3389/fgene.2018.00368. eCollection 2018. Front Genet. 2018. PMID: 30233648 Free PMC article.
Intrathecal dexamethasone therapy for febrile infection-related epilepsy syndrome.
Horino A, Kuki I, Inoue T, Nukui M, Okazaki S, Kawawaki H, Togawa M, Amo K, Ishikawa J, Ujiro A, Shiomi M, Sakuma H. Horino A, et al. Among authors: okazaki s. Ann Clin Transl Neurol. 2021 Mar;8(3):645-655. doi: 10.1002/acn3.51308. Epub 2021 Feb 5. Ann Clin Transl Neurol. 2021. PMID: 33547757 Free PMC article.
1,263 results