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Page 1
Gallbladder Paraganglioma Associated with SDHD Mutation: a Potential Pitfall on 18F-FDOPA PET Imaging.
Abdul Sater Z, Jha A, Mandl A, Mangelen SK, Carrasquillo JA, Ling A, Gonzales MK, Lopes Abath Neto O, Miettinen M, Adams KT, Nockel P, El Lakis M, Pacak K. Abdul Sater Z, et al. Among authors: lopes abath neto o. Nucl Med Mol Imaging. 2019 Apr;53(2):144-147. doi: 10.1007/s13139-018-0558-1. Epub 2019 Feb 19. Nucl Med Mol Imaging. 2019. PMID: 31057686 Free PMC article.
High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma.
Raffeld M, Abdullaev Z, Pack SD, Xi L, Nagaraj S, Briceno N, Vera E, Pittaluga S, Lopes Abath Neto O, Quezado M, Aldape K, Armstrong TS, Gilbert MR. Raffeld M, et al. Among authors: lopes abath neto o. Acta Neuropathol Commun. 2020 Jul 8;8(1):101. doi: 10.1186/s40478-020-00973-y. Acta Neuropathol Commun. 2020. PMID: 32641156 Free PMC article.
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival.
Wu Z, Lopes Abath Neto O, Bale TA, Benhamida J, Mata D, Turakulov R, Abdullaev Z, Marker D, Ketchum C, Chung HJ, Giannini C, Quezado M, Pratt D, Aldape K. Wu Z, et al. Among authors: lopes abath neto o. Acta Neuropathol. 2022 Jul;144(1):155-157. doi: 10.1007/s00401-022-02430-7. Epub 2022 May 14. Acta Neuropathol. 2022. PMID: 35567606 Free PMC article. No abstract available.
Morphologic and Molecular Aspects of Glioblastomas.
Lopes Abath Neto O, Aldape K. Lopes Abath Neto O, et al. Neurosurg Clin N Am. 2021 Apr;32(2):149-158. doi: 10.1016/j.nec.2021.01.001. Neurosurg Clin N Am. 2021. PMID: 33781498 Review.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Among authors: lopes abath neto o. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643 Free PMC article.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Molecular profiling of renal cell carcinoma presenting as iris metastasis.
Lopes Abath Neto O, Koretz ZA, Wald AI, Rath PP, Nikiforova M, Chu CT. Lopes Abath Neto O, et al. Am J Ophthalmol Case Rep. 2022 May 24;27:101599. doi: 10.1016/j.ajoc.2022.101599. eCollection 2022 Sep. Am J Ophthalmol Case Rep. 2022. PMID: 35664447 Free PMC article.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: lopes abath neto o. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
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