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Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: klein k. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: klein k. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: klein k. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Caffeine induces alveolar bone loss in rats submitted to orthodontic movement via activation of receptor activator of nuclear factor ҡB, receptor activator of nuclear factor ҡB ligand, and osteoprotegerin pathway.
Moreno MC, Cavalcante GRG, Pirih FQ, Soares VP, Klein KP, da Silveira ÉJD, da Silva JSP, Lins RDAU, de Araujo AA, Lopes MLDS, Pereira HSG. Moreno MC, et al. Among authors: klein kp. Am J Orthod Dentofacial Orthop. 2024 May 16:S0889-5406(24)00147-1. doi: 10.1016/j.ajodo.2024.04.009. Online ahead of print. Am J Orthod Dentofacial Orthop. 2024. PMID: 38762812
Search for exotic decays of the Higgs boson to a pair of pseudoscalars in the μμbb and ττbb final states.
CMS Collaboration; Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Del Valle AE, Hussain PS, Jeitler M, Krammer N, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Bols ES, D'Hondt J, Dansana S, De Moor A, Delcourt M, El Faham H, Lowette S, Makarenko I, Müller D, Sahasransu AR, Tavernier S, Tytgat M, Van Putte S, Vannerom D, Clerbaux B, De Lentdecker G, Favart L, Hohov D, Jaramillo J, Khalilzadeh A, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Pétré L, Postiau N, Thomas L, Bemden MV, Velde CV, Vanlaer P, De Coen M, Dobur D, Hong Y, Knolle J, Lambrecht L, Mestdach G, Rendón C, Samalan A, Skovpen K, Van Den Bossche N, Wezenbeek L, Benecke A, Bruno G, Caputo C, Delaere C, Donertas IS, Giammanco A, Jaffel K, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Mondal K, Tran TT, Wertz S, Alves GA, Coelho E, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Aldá Júnior WL, Alves Gallo Pereira M, Barroso Ferreira Filho M, Brandao Malbouisson H, Carvalho W, Chinellato J, Da Costa EM, Da Silveira GG, De Jesus Damiao D, Fonseca De… See abstract for full author list ➔ CMS Collaboration, et al. Among authors: klein k. Eur Phys J C Part Fields. 2024;84(5):493. doi: 10.1140/epjc/s10052-024-12727-4. Epub 2024 May 14. Eur Phys J C Part Fields. 2024. PMID: 38757620 Free PMC article.
Potent drug delivery enhancement of betulinic acid and NVX-207 into equine skin in vitro - a comparison between a novel oxygen flow-assisted transdermal application device and microemulsion gels.
Zscherpe P, Kalbitz J, Weber LA, Paschke R, Mäder K, von Rechenberg B, Cavalleri JV, Meißner J, Klein K. Zscherpe P, et al. Among authors: klein k. BMC Vet Res. 2024 May 16;20(1):202. doi: 10.1186/s12917-024-04064-1. BMC Vet Res. 2024. PMID: 38755639 Free PMC article.
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Kanakatti Shankar R, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group; Backeljauw PF. Gravholt CH, et al. Among authors: klein ko. Eur J Endocrinol. 2024 May 15:lvae050. doi: 10.1093/ejendo/lvae050. Online ahead of print. Eur J Endocrinol. 2024. PMID: 38748847
PathwayNexus: a tool for interactive metabolic data analysis.
Eberhard P, Kern M, Aichem M, Borlinghaus H, Klein K, Delp J, Suciu I, Moser B, Dietrich D, Leist M, Schreiber F. Eberhard P, et al. Among authors: klein k. Bioinformatics. 2024 May 9:btae310. doi: 10.1093/bioinformatics/btae310. Online ahead of print. Bioinformatics. 2024. PMID: 38724240
2,112 results