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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Kerby C Oberg, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: lotze te. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. PMID: 38405817 Free PMC article. Preprint.
An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision.
Kerr LM, Ryan ME, Lim M, Hearn S, Klein A, Deiva K, Hopkins SE, Bacchus MK, Sokol EA, Waanders AJ, Mitchell WG, Khakoo Y, Lotze TE, Zhang B, Gorman MP. Kerr LM, et al. Among authors: lotze te. Pediatr Neurol. 2023 Nov;148:145-147. doi: 10.1016/j.pediatrneurol.2023.05.006. Epub 2023 May 16. Pediatr Neurol. 2023. PMID: 37716108 No abstract available.
Fulminant Anti-Myelin Oligodendrocyte Glycoprotein-Associated Cerebral Cortical Encephalitis: Case Series of a Severe Pediatric Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Phenotype.
Kannan V, Sandweiss AJ, Erickson TA, Yarimi JM, Ankar A, Hardwick VA, Shukla NM, Lotze TE, Risen SR, Riviello JJ, Lai YC, Moeller KK, Fisher K. Kannan V, et al. Among authors: lotze te. Pediatr Neurol. 2023 Oct;147:36-43. doi: 10.1016/j.pediatrneurol.2023.07.002. Epub 2023 Jul 11. Pediatr Neurol. 2023. PMID: 37544084
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.
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.
55 results