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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
1999 4
2000 2
2001 2
2002 3
2003 5
2004 3
2005 1
2006 6
2007 5
2008 6
2009 7
2010 9
2011 18
2012 21
2013 11
2014 10
2015 20
2016 18
2017 17
2018 21
2019 34
2020 22
2021 34
2022 13
2023 7
2024 7

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250 results

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Page 1
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Endovascular Therapy for Stroke Due to Basilar-Artery Occlusion.
Langezaal LCM, van der Hoeven EJRJ, Mont'Alverne FJA, de Carvalho JJF, Lima FO, Dippel DWJ, van der Lugt A, Lo RTH, Boiten J, Lycklama À Nijeholt GJ, Staals J, van Zwam WH, Nederkoorn PJ, Majoie CBLM, Gerber JC, Mazighi M, Piotin M, Zini A, Vallone S, Hofmeijer J, Martins SO, Nolte CH, Szabo K, Dias FA, Abud DG, Wermer MJH, Remmers MJM, Schneider H, Rueckert CM, de Laat KF, Yoo AJ, van Doormaal PJ, van Es ACGM, Emmer BJ, Michel P, Puetz V, Audebert HJ, Pontes-Neto OM, Vos JA, Kappelle LJ, Algra A, Schonewille WJ; BASICS Study Group. Langezaal LCM, et al. N Engl J Med. 2021 May 20;384(20):1910-1920. doi: 10.1056/NEJMoa2030297. N Engl J Med. 2021. PMID: 34010530 Clinical Trial.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Carotid endarterectomy or stenting or best medical treatment alone for moderate-to-severe asymptomatic carotid artery stenosis: 5-year results of a multicentre, randomised controlled trial.
Reiff T, Eckstein HH, Mansmann U, Jansen O, Fraedrich G, Mudra H, Böckler D, Böhm M, Debus ES, Fiehler J, Mathias K, Ringelstein EB, Schmidli J, Stingele R, Zahn R, Zeller T, Niesen WD, Barlinn K, Binder A, Glahn J, Hacke W, Ringleb PA; SPACE-2 Investigators. Reiff T, et al. Lancet Neurol. 2022 Oct;21(10):877-888. doi: 10.1016/S1474-4422(22)00290-3. Lancet Neurol. 2022. PMID: 36115360 Clinical Trial.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Parental Experiences of Genetic Testing.
Groden CM, Vetter CJ, Salih ZNI. Groden CM, et al. Neoreviews. 2024 Mar 1;25(3):e151-e158. doi: 10.1542/neo.25-3-e151. Neoreviews. 2024. PMID: 38425197 Review.
IQWiG Arbeitspapier GA15-02: "Stents zur Behandlung intrakranieller Stenosen: VISSIT Studie und Akutbehandlung in Deutschland". Kommentar des Berufsverbandes der Neuroradiologen (BDNR), der Deutschen Gesellschaft für Neuroradiologie (DGNR), der Deutschen Gesellschaft für Neurologie (DGN) und der Deutschen Schlaganfall-Gesellschaft (DSG).
Kurre W, Berlis A, Diener HC, Fiehler J, Gold R, Groden C, Hamann GF, Röther J, Eckert B. Kurre W, et al. Among authors: groden c. Clin Neuroradiol. 2015 Dec;25(4):445-9. doi: 10.1007/s00062-015-0482-z. Clin Neuroradiol. 2015. PMID: 26589208 German.
250 results