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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. Among authors: bonnemann cg. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.
Vial F, McGurrin P, Osterholt T, Ehrlich DJ, Iannacone ST, Donkervoort S, Neuhaus SB, Chao KC, Bönnemann CG, Haubenberger D, Hallett M. Vial F, et al. Among authors: bonnemann cg. Mov Disord Clin Pract. 2023 Mar 14;10(4):646-651. doi: 10.1002/mdc3.13664. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070061 Free PMC article.
PIEZO2 in somatosensory neurons controls gastrointestinal transit.
Servin-Vences MR, Lam RM, Koolen A, Wang Y, Saade DN, Loud M, Kacmaz H, Frausto S, Zhang Y, Beyder A, Marshall KL, Bönnemann CG, Chesler AT, Patapoutian A. Servin-Vences MR, et al. Among authors: bonnemann cg. Cell. 2023 Aug 3;186(16):3386-3399.e15. doi: 10.1016/j.cell.2023.07.006. Cell. 2023. PMID: 37541196 Free PMC article.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: bonnemann cg. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).
Battaglia R, Faridounnia M, Beltran A, Robinson J, Kinghorn K, Ezzell JA, Bharucha-Goebel D, Bonnemann C, Hooper JE, Opal P, Bouldin TW, Armao D, Snider N. Battaglia R, et al. bioRxiv [Preprint]. 2023 Mar 14:2023.03.13.532440. doi: 10.1101/2023.03.13.532440. bioRxiv. 2023. PMID: 36993491 Free PMC article. Updated. Preprint.
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.
Bullivant J, Sen A, Page J, Graham RJ, Jungbluth H, Schara-Schmidt U, Lynch O, Bönnemann C, Hollander AD, Lennox A, Moat D, Saegert C, Amburgey K, Buj-Bello A, Dowling JJ, Marini-Bettolo C. Bullivant J, et al. Neuromuscul Disord. 2024 Feb;35:42-52. doi: 10.1016/j.nmd.2023.10.014. Epub 2023 Oct 30. Neuromuscul Disord. 2024. PMID: 38061948 Free article.
300 results