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Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Weyhrauch DL, et al. Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26739101
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.
Niu Z, Pontifex CS, Berini S, Hamilton LE, Naddaf E, Wieben E, Aleff RA, Martens K, Gruber A, Engel AG, Pfeffer G, Milone M. Niu Z, et al. Among authors: wieben e. Front Neurol. 2018 Mar 19;9:147. doi: 10.3389/fneur.2018.00147. eCollection 2018. Front Neurol. 2018. PMID: 29599744 Free PMC article.
A prospective genome-wide study of prostate cancer metastases reveals association of wnt pathway activation and increased cell cycle proliferation with primary resistance to abiraterone acetate-prednisone.
Wang L, Dehm SM, Hillman DW, Sicotte H, Tan W, Gormley M, Bhargava V, Jimenez R, Xie F, Yin P, Qin S, Quevedo F, Costello BA, Pitot HC, Ho T, Bryce AH, Ye Z, Li Y, Eiken P, Vedell PT, Barman P, McMenomy BP, Atwell TD, Carlson RE, Ellingson M, Eckloff BW, Qin R, Ou F, Hart SN, Huang H, Jen J, Wieben ED, Kalari KR, Weinshilboum RM, Wang L, Kohli M. Wang L, et al. Among authors: wieben ed. Ann Oncol. 2018 Feb 1;29(2):352-360. doi: 10.1093/annonc/mdx689. Ann Oncol. 2018. PMID: 29069303 Free PMC article. Clinical Trial.
RYR1 causing distal myopathy.
Laughlin RS, Niu Z, Wieben E, Milone M. Laughlin RS, et al. Among authors: wieben e. Mol Genet Genomic Med. 2017 Nov;5(6):800-804. doi: 10.1002/mgg3.338. Epub 2017 Oct 4. Mol Genet Genomic Med. 2017. PMID: 29178655 Free PMC article.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. DeJesus-Hernandez M, et al. Among authors: wieben ed. Brain. 2021 May 7;144(4):1082-1088. doi: 10.1093/brain/awab006. Brain. 2021. PMID: 33889947 Free PMC article.
184 results