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Year Number of Results
1950 1
2011 1
2013 4
2014 2
2017 2
2019 14
2020 17
2021 18
2022 9
2023 7
2024 2

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69 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Sensing a little friction.
Kelley EG, Heberle FA. Kelley EG, et al. Biophys J. 2022 Aug 2;121(15):2827-2829. doi: 10.1016/j.bpj.2022.06.034. Epub 2022 Jun 30. Biophys J. 2022. PMID: 35810746 Free PMC article. No abstract available.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
α-Synuclein Interaction with Lipid Bilayer Discs.
Dubackic M, Liu Y, Kelley EG, Hetherington C, Haertlein M, Devos JM, Linse S, Sparr E, Olsson U. Dubackic M, et al. Among authors: kelley eg. Langmuir. 2022 Aug 23;38(33):10216-10224. doi: 10.1021/acs.langmuir.2c01368. Epub 2022 Aug 11. Langmuir. 2022. PMID: 35952001 Free PMC article.
Interleaflet coupling of n-alkane incorporated bilayers.
Usuda H , Hishida M , Kelley EG , Yamamura Y , Nagao M , Saito K . Usuda H , et al. Among authors: kelley eg. Phys Chem Chem Phys. 2020 Mar 14;22(10):5418-5426. doi: 10.1039/c9cp06059f. Epub 2020 Jan 6. Phys Chem Chem Phys. 2020. PMID: 31904060 Free PMC article.
Vitamin E Does Not Disturb Polyunsaturated Fatty Acid Lipid Domains.
DiPasquale M, Nguyen MHL, Castillo SR, Dib IJ, Kelley EG, Marquardt D. DiPasquale M, et al. Among authors: kelley eg. Biochemistry. 2022 Nov 1;61(21):2366-2376. doi: 10.1021/acs.biochem.2c00405. Epub 2022 Oct 13. Biochemistry. 2022. PMID: 36227768
A thermodynamic analysis of CLC transporter dimerization in lipid bilayers.
Chadda R, Lee T, Mahoney-Kruszka R, Kelley EG, Bernhardt N, Sandal P, Robertson JL. Chadda R, et al. Among authors: kelley eg. Proc Natl Acad Sci U S A. 2023 Oct 10;120(41):e2305100120. doi: 10.1073/pnas.2305100120. Epub 2023 Oct 3. Proc Natl Acad Sci U S A. 2023. PMID: 37788312 Free PMC article.
69 results