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

Year Number of Results
1993 1
2000 1
2003 1
2004 2
2005 2
2006 1
2007 1
2008 6
2009 3
2010 1
2011 3
2012 5
2013 3
2014 7
2015 6
2016 11
2017 10
2018 14
2019 8
2020 9
2021 17
2022 10
2023 15
2024 5

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115 results

Results by year

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Page 1
TLR7 gain-of-function genetic variation causes human lupus.
Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CA, Gónzalez-Murillo Á, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. Brown GJ, et al. Among authors: lotze t. Nature. 2022 May;605(7909):349-356. doi: 10.1038/s41586-022-04642-z. Epub 2022 Apr 27. Nature. 2022. PMID: 35477763 Free PMC article.
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group. Rossor T, et al. Among authors: lotze t. Neurol Neuroimmunol Neuroinflamm. 2022 Mar 8;9(3):e1153. doi: 10.1212/NXI.0000000000001153. Print 2022 May. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35260471 Free PMC article. Review.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: lotze t. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
GARS1-Associated Axonal Neuropathy.
Markovitz R, Ghosh R, Lotze T, Potocki L. Markovitz R, et al. Among authors: lotze t. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301420 Free Books & Documents. Review.
Neurology in a Pandemic.
Clark GD, Lotze TE. Clark GD, et al. Among authors: lotze te. Neurol Clin. 2021 Aug;39(3):699-704. doi: 10.1016/j.ncl.2021.05.002. Neurol Clin. 2021. PMID: 34215381 Review.
Pediatric transverse myelitis.
Absoud M, Greenberg BM, Lim M, Lotze T, Thomas T, Deiva K. Absoud M, et al. Among authors: lotze t. Neurology. 2016 Aug 30;87(9 Suppl 2):S46-52. doi: 10.1212/WNL.0000000000002820. Neurology. 2016. PMID: 27572861 Review.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW. Morales-Rosado JA, et al. Among authors: lotze te. Am J Hum Genet. 2023 Jun 1;110(6):989-997. doi: 10.1016/j.ajhg.2023.04.006. Epub 2023 May 10. Am J Hum Genet. 2023. PMID: 37167966 Free PMC article.
Inflammatory Diseases of the Central Nervous System.
Malani Shukla N, Lotze TE, Muscal E. Malani Shukla N, et al. Among authors: lotze te. Neurol Clin. 2021 Aug;39(3):811-828. doi: 10.1016/j.ncl.2021.04.004. Epub 2021 Jun 9. Neurol Clin. 2021. PMID: 34215388 Review.
Paroxysmal kinesigenic dyskinesias.
Lotze T, Jankovic J. Lotze T, et al. Semin Pediatr Neurol. 2003 Mar;10(1):68-79. doi: 10.1016/s1071-9091(02)00012-8. Semin Pediatr Neurol. 2003. PMID: 12785750 Review.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: lotze t. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
115 results