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149 results

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Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: amorim s. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: amorim s. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. Gurgel-Giannetti J, et al. Among authors: amorim s. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. Brain. 2018. PMID: 30010796 Free PMC article.
In vitro proteolysis mirrors intact muscle maturation in beef carcasses.
Bodmer JS, Beline M, Yen CN, Wicks JC, Amorim ST, Roth EC, Biase FH, Koohmaraie M, Matarneh S, Shi TH, Silva SL, Gerrard DE. Bodmer JS, et al. Among authors: amorim st. Meat Sci. 2025 Feb;220:109695. doi: 10.1016/j.meatsci.2024.109695. Epub 2024 Nov 1. Meat Sci. 2025. PMID: 39577158
Real-world data for marginal zone lymphoma patients in the French REALYSA cohort: The REALMA study.
Bommier C, Donzel M, Rossi C, Fornecker LM, Bijou F, Chauchet A, Lebras L, Ysabaert L, Haioun C, Bouabdallah K, Gastinne T, Morineau N, Amorim S, Jardin F, Abraham J, Lamy de la Chapelle T, Gressin R, Fouillet L, Fruchart C, Olivier G, Morschhauser F, Cherblanc F, Belot A, Le Guyader S, Monnereau A, Ghesquieres H, Thieblemont C. Bommier C, et al. Among authors: amorim s. Hematol Oncol. 2024 Nov;42(6):e3314. doi: 10.1002/hon.3314. Hematol Oncol. 2024. PMID: 39351974 Free PMC article.
149 results