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Page 1
Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism.
Kobylecki C, Chelban V, Goh YY, Michou E, Fumi R, Theilmann Jensen M, Mohammad R, Costantini A, Vijiaratnam N, Pavey S, Pavese N, Leigh PN, Rowe JB, Hu MT, Church A, Morris HR, Houlden H. Kobylecki C, et al. Among authors: houlden h. Eur J Neurol. 2024 Jun;31(6):e16258. doi: 10.1111/ene.16258. Epub 2024 Feb 26. Eur J Neurol. 2024. PMID: 38407533 Free PMC article.
Axial motor clues to identify atypical parkinsonism: A multicentre European cohort study.
Borm CDJM, Krismer F, Wenning GK, Seppi K, Poewe W, Pellecchia MT, Barone P, Johnsen EL, Østergaard K, Gurevich T, Djaldetti R, Sambati L, Cortelli P, Petrović I, Kostić VS, Brožová H, Růžička E, Marti MJ, Tolosa E, Canesi M, Post B, Nonnekes J, Bloem BR; European MSA Study Group (EMSA-SG). Borm CDJM, et al. Parkinsonism Relat Disord. 2018 Nov;56:33-40. doi: 10.1016/j.parkreldis.2018.06.015. Epub 2018 Jun 8. Parkinsonism Relat Disord. 2018. PMID: 29910157
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Jerez PÁ, et al. Among authors: houlden h. medRxiv [Preprint]. 2024 Feb 24:2024.02.20.24302827. doi: 10.1101/2024.02.20.24302827. medRxiv. 2024. PMID: 39802803 Free PMC article. Preprint.
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.
Zhang K, Manning AC, Lentini JM, Howard J, Dalwigk F, Maroofian R, Efthymiou S, Chan P, Eliseev SI, Yang Z, Chang H, Karimiani EG, Bakhshoodeh B, Houlden H, Kaiser SM, Lowe TM, Fu D. Zhang K, et al. Among authors: houlden h. Cell Rep. 2025 Jan 8;44(1):115092. doi: 10.1016/j.celrep.2024.115092. Online ahead of print. Cell Rep. 2025. PMID: 39786990 Free article.
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: houlden h. Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. Am J Hum Genet. 2025. PMID: 39701103 Free article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: houlden h. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Evaluating multiple sclerosis severity loci 30 years after a clinically isolated syndrome.
Sahi N, Haider L, Chung K, Prados Carrasco F, Kanber B, Samson R, Thompson AJ, Trip SA, Brownlee W, Ciccarelli O, Barkhof F, Tur C, Houlden H, Chard D. Sahi N, et al. Among authors: houlden h. Brain Commun. 2024 Dec 5;6(6):fcae443. doi: 10.1093/braincomms/fcae443. eCollection 2024. Brain Commun. 2024. PMID: 39670111 Free PMC article.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: houlden h. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
957 results