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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.
Demographic Features and Clinical Course of Patients With Pediatric-Onset Multiple Sclerosis on Newer Disease-Modifying Treatments.
Malani Shukla N, Casper TC, Ness J, Wheeler Y, Chitnis T, Lotze T, Gorman M, Benson L, Weinstock-Guttmann B, Aaen G, Rodriguez M, Tillema JM, Krupp L, Schreiner T, Mar S, Goyal M, Rensel M, Abrams A, Rose J, Waltz M, Liu T, Manlius C, Waubant E; U.S. Network of Pediatric Multiple Sclerosis Centers. Malani Shukla N, et al. Among authors: lotze t. Pediatr Neurol. 2023 Aug;145:125-131. doi: 10.1016/j.pediatrneurol.2023.04.020. Epub 2023 Apr 28. Pediatr Neurol. 2023. PMID: 37348193
Therapeutic Response in Pediatric Neuromyelitis Optica Spectrum Disorder.
Pizzolato Umeton R, Waltz M, Aaen GS, Benson L, Gorman M, Goyal M, Graves JS, Harris Y, Krupp L, Lotze TE, Shukla NM, Mar S, Ness J, Rensel M, Schreiner T, Tillema JM, Roalstad S, Rodriguez M, Rose J, Waubant E, Weinstock-Guttman B, Casper C, Chitnis T; US Network of Pediatric MS Centers. Pizzolato Umeton R, et al. Among authors: lotze te. Neurology. 2023 Feb 28;100(9):e985-e994. doi: 10.1212/WNL.0000000000201625. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460473 Free PMC article.
Characteristics of pediatric patients with multiple sclerosis and related disorders infected with SARS-CoV-2.
Schreiner T, Wilson-Murphy M, Mendelt-Tillema J, Waltz M, Codden R, Benson L, Gorman M, Goyal M, Krupp L, Lotze T, Mar S, Ness J, Rensel M, Roalstad S, Rodriguez M, Rose J, Shukla N, Waubant E, Wheeler Y, Casper TC, Chitnis T. Schreiner T, et al. Among authors: lotze t. Mult Scler. 2023 Apr;29(4-5):576-584. doi: 10.1177/13524585231151948. Epub 2023 Mar 23. Mult Scler. 2023. PMID: 36960480 Free PMC article.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: lotze t. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Calame DG, et al. Among authors: lotze t. Neurol Genet. 2021 Apr 26;7(3):e589. doi: 10.1212/NXG.0000000000000589. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 33977145 Free PMC article.
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Calame DG, et al. Among authors: lotze te. Ann Clin Transl Neurol. 2021 Oct;8(10):2052-2058. doi: 10.1002/acn3.51454. Epub 2021 Sep 15. Ann Clin Transl Neurol. 2021. PMID: 34524739 Free PMC article.
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.
144 results