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144 results

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Luo X, et al. Among authors: lotze t. PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28742085 Free PMC article.
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.
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
Assessing Needs and Perceptions of Research Participation in Pediatric-Onset Multiple Sclerosis: A Multistakeholder Survey.
Gambrah-Lyles C, Kannan V, Lotze T, Abrams A, Schreiner T, Rodriguez M, Casper TC, Rose JW, Gorman MP, Chitnis T, Loud S, Wheeler Y, Mar S; US Network of Pediatric MS Centers. Gambrah-Lyles C, et al. Among authors: lotze t. Pediatr Neurol. 2024 Feb;151:115-120. doi: 10.1016/j.pediatrneurol.2023.11.019. Epub 2023 Dec 4. Pediatr Neurol. 2024. PMID: 38154238
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.
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Gonzaga-Jauregui C, et al. Among authors: lotze t. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598. JAMA Neurol. 2013. PMID: 24126608 Free PMC article.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Lalani SR, et al. Among authors: lotze t. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439098 Free PMC article.
144 results