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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L. Harel T, et al. Among authors: holtz am. Brain. 2024 May 16:awae160. doi: 10.1093/brain/awae160. Online ahead of print. Brain. 2024. PMID: 38753057
Cutting Edge Bionics in Highly Impaired Individuals: A Case of Challenges and Opportunities.
Earley EJ, Zbinden J, Munoz-Novoa M, Just F, Vasan C, Holtz AS, Emadeldin M, Kolankowska J, Davidsson B, Thesleff A, Millenaar J, Jonsson S, Cipriani C, Granberg H, Sassu P, Branemark R, Ortiz-Catalan M. Earley EJ, et al. Among authors: holtz as. IEEE Trans Neural Syst Rehabil Eng. 2024;32:1013-1022. doi: 10.1109/TNSRE.2024.3366530. Epub 2024 Mar 1. IEEE Trans Neural Syst Rehabil Eng. 2024. PMID: 38363669
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: holtz am. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: holtz am. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
Neuronal Glycogen Breakdown Mitigates Tauopathy via Pentose Phosphate Pathway-Mediated Oxidative Stress Reduction.
Bar S, Wilson KA, Hilsabeck TAU, Alderfer S, Dammer EB, Burton JB, Shah S, Holtz A, Carrera EM, Beck JN, Chen JH, Kauwe G, Tracy TE, Seyfried NT, Schilling B, Ellerby LM, Kapahi P. Bar S, et al. Among authors: holtz a. Res Sq [Preprint]. 2023 Nov 8:rs.3.rs-3526342. doi: 10.21203/rs.3.rs-3526342/v1. Res Sq. 2023. PMID: 37986935 Free PMC article. Preprint.
Dementia in Germany: epidemiology, trends and challenges.
Georges D, Rakusa E, Holtz AV, Fink A, Doblhammer G. Georges D, et al. Among authors: holtz av. J Health Monit. 2023 Sep 20;8(3):30-48. doi: 10.25646/11667. eCollection 2023 Sep. J Health Monit. 2023. PMID: 37829121 Free PMC article.
Dual Blockade of EP2 and EP4 Signaling is Required for Optimal Immune Activation and Antitumor Activity Against Prostaglandin-Expressing Tumors.
Francica BJ, Holtz A, Lopez J, Freund D, Chen A, Wang D, Powell D, Kipper F, Panigrahy D, Dubois RN, Whiting CC, Prasit P, Dubensky TW. Francica BJ, et al. Among authors: holtz a. Cancer Res Commun. 2023 Aug 8;3(8):1486-1500. doi: 10.1158/2767-9764.CRC-23-0249. eCollection 2023 Aug. Cancer Res Commun. 2023. PMID: 37559947 Free PMC article.
149 results