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Page 1
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropo… See abstract for full author list ➔ Küry S, et al. Among authors: thompson ml. Nat Commun. 2025 Nov 26;16(1):10545. doi: 10.1038/s41467-025-65556-8. Nat Commun. 2025. PMID: 41298377 Free PMC article.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey SE, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand MS, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black DL, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A. Masson A, et al. Among authors: thompson ml. J Clin Invest. 2025 Sep 18;135(22):e182100. doi: 10.1172/JCI182100. eCollection 2025 Nov 17. J Clin Invest. 2025. PMID: 40965981 Free PMC article.
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Poleg T, Hadar N, Kristal E, Roberts NY, Dolgin V, Aminov I, Safran A, Agam N, Jean M, Freund O, Sheridan EG, Poulter JA, Thompson ML, Algoos Y, Al-Qahtani S, AlAbdi L, Maddirevula S, Hartill V, Houlden H, Maroofian R, Nahum A, Birk OS. Poleg T, et al. Among authors: thompson ml. Mov Disord. 2025 Sep;40(9):1874-1882. doi: 10.1002/mds.30249. Epub 2025 Jun 10. Mov Disord. 2025. PMID: 40492975 Free PMC article.
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.
Hirano Y, Miyazaki Y, Ishikawa D, Inahashi H, Al-Hassnan ZN, Zifarelli G, Bauer P, Alvi JR, Sultan T, Thompson ML, Sezer A, Konuşkan B, Hajir RS, El-Hattab AW, Efthymiou S, Ishida A, Yokoi N, Kornau HC, Schmitz D, Prüss H, Houlden H, Ikegaya Y, Fukata Y, Fukata M, Maroofian R. Hirano Y, et al. Among authors: thompson ml. Brain. 2025 Oct 3;148(10):3514-3522. doi: 10.1093/brain/awaf202. Brain. 2025. PMID: 40455867 Free PMC article.
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Guzman SG, Ruggiero SM, Ganesan S, Ellis CA, Harrison AG, Sullivan KR, Stark Z, Brown NJ, Kana SL, Tuttle A, Tenorio J, Lapunzina P, Nevado J, McDonald MT, Jensen C, Wheeler PG, Stange L, Morrison J, Keren B, Heide S, Keating MW, Butler KM, Lyons MA, Jain S, Yeganeh M, Thompson ML, Schroeder M, Nguyen H, Granadillo J, Johnston KM, Murali CN, Bosanko K, Burrow TA; CHOP Birth Defects Biorepository; Penn Medicine BioBank; Morgan S, Watson DJ, Hakonarson H, Helbig I. Guzman SG, et al. Among authors: thompson ml. Am J Hum Genet. 2025 Jun 5;112(6):1415-1429. doi: 10.1016/j.ajhg.2025.04.011. Epub 2025 May 19. Am J Hum Genet. 2025. PMID: 40393460 Free PMC article.
244 results