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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

464 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: shimura m. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ. Sung AY, et al. Among authors: shimura m. Nat Metab. 2024 Jun;6(6):1128-1142. doi: 10.1038/s42255-024-01039-2. Epub 2024 May 8. Nat Metab. 2024. PMID: 38720117 Free PMC article.
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y. Ozaki K, et al. Among authors: shimura m. NPJ Genom Med. 2024 Oct 25;9(1):48. doi: 10.1038/s41525-024-00429-5. NPJ Genom Med. 2024. PMID: 39455596 Free PMC article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: shimura m. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Real-World Outcomes of Different Types of Treatment for Diabetic Macular Edema Before and After Approval of Anti-Vascular Endothelium Growth Factor Agents.
Sugimoto M, Chujo S, Kato K, Shimura M, Kitano S, Kusuhara S, Terasaki H, Kondo M, Writing Committee Of Japan-Clinical Retina Study Group J-Crest. Sugimoto M, et al. Among authors: shimura m. J Clin Med. 2024 Dec 2;13(23):7336. doi: 10.3390/jcm13237336. J Clin Med. 2024. PMID: 39685795 Free PMC article.
Genomic correlates of response and resistance to the irreversible FGFR1-4 inhibitor futibatinib based on biopsy and circulating tumor DNA profiling.
Goyal L, DiToro D, Hollebecque A, Bridgewater JA, Shimura M, Kano A, Okamura S, Silhavy JL, Wacheck V, Halim A, Meric-Bernstam F. Goyal L, et al. Among authors: shimura m. Ann Oncol. 2024 Dec 11:S0923-7534(24)04976-7. doi: 10.1016/j.annonc.2024.11.017. Online ahead of print. Ann Oncol. 2024. PMID: 39672383 Free article.
Association between the High-density Lipoprotein Cholesterol Efflux Capacity and the Long-term Prognosis in Patients with Coronary Artery Disease: A Meta-analysis.
Hisauchi I, Ishikawa T, Yamada K, Ukaji T, Shimura M, Tamura Y, Kondo Y, Takeyama T, Mori K, Arai M, Hori Y, Nakahara S, Itabashi Y, Kobayashi S, Taguchi I. Hisauchi I, et al. Among authors: shimura m. J Atheroscler Thromb. 2024 Oct 24. doi: 10.5551/jat.65171. Online ahead of print. J Atheroscler Thromb. 2024. PMID: 39443115 Free article.
464 results