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

41 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: mcclenaghan c. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG. Huang Y, et al. Among authors: mcclenaghan c. JCI Insight. 2018 Aug 9;3(15):e121153. doi: 10.1172/jci.insight.121153. eCollection 2018 Aug 9. JCI Insight. 2018. PMID: 30089727 Free PMC article.
Pulmonary Hypertension and ATP-Sensitive Potassium Channels.
McClenaghan C, Woo KV, Nichols CG. McClenaghan C, et al. Hypertension. 2019 Jul;74(1):14-22. doi: 10.1161/HYPERTENSIONAHA.119.12992. Epub 2019 May 28. Hypertension. 2019. PMID: 31132951 Free PMC article. Review. No abstract available.
Beta-cell excitability and excitability-driven diabetes in adult Zebrafish islets.
Emfinger CH, Lőrincz R, Wang Y, York NW, Singareddy SS, Ikle JM, Tryon RC, McClenaghan C, Shyr ZA, Huang Y, Reissaus CA, Meyer D, Piston DW, Hyrc K, Remedi MS, Nichols CG. Emfinger CH, et al. Among authors: mcclenaghan c. Physiol Rep. 2019 Jun;7(11):e14101. doi: 10.14814/phy2.14101. Physiol Rep. 2019. PMID: 31161721 Free PMC article.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG. Ma A, et al. Among authors: mcclenaghan c. Am J Med Genet A. 2019 Aug;179(8):1585-1590. doi: 10.1002/ajmg.a.61200. Epub 2019 Jun 7. Am J Med Genet A. 2019. PMID: 31175705 Free PMC article.
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Among authors: mcclenaghan c. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G. Grange DK, et al. Among authors: mcclenaghan c. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 Free PMC article.
41 results