Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2019 | 2 |
2020 | 1 |
2021 | 2 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Valine metabolites analysis in ECHS1 deficiency.
Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec.
Mol Genet Metab Rep. 2021.
PMID: 34667719
Free PMC article.
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M.
Hinokuma N, et al. Among authors: uchino s.
Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep.
Epilepsia Open. 2020.
PMID: 32913952
Free PMC article.
Item in Clipboard
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I, Goto YI.
Uchino S, et al.
Hum Genome Var. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1. eCollection 2019.
Hum Genome Var. 2019.
PMID: 31016024
Free PMC article.
Item in Clipboard
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R.
Bonora E, et al. Among authors: uchino s.
Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056.
Brain. 2021.
PMID: 33855352
Free article.
Item in Clipboard
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: uchino s.
Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2.
Ann Neurol. 2019.
PMID: 31155743
Item in Clipboard
Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.
Uchino S, Saitsu H, Kumada S, Nakata Y, Matsumoto N.
Uchino S, et al.
Mov Disord Clin Pract. 2015 Mar 30;2(2):190-191. doi: 10.1002/mdc3.12158. eCollection 2015 Jun.
Mov Disord Clin Pract. 2015.
PMID: 30713893
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite