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Page 1
X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
Jardim LB, da Silva AC, Blank D, Villanueva MM, Renck L, Costa ML, Vargas CR, Deon M, Coelho Dl, Vedolin L, de Castro CG Jr, Gregianin L, Bonfim C, Giugliani R. Jardim LB, et al. Among authors: villanueva mm. Brain Dev. 2010 Mar;32(3):180-90. doi: 10.1016/j.braindev.2009.02.002. Epub 2009 Mar 6. Brain Dev. 2010. PMID: 19269120
Clinical aspects of neuropathic lysosomal storage disorders.
Jardim LB, Villanueva MM, de Souza CF, Netto CB. Jardim LB, et al. Among authors: villanueva mm. J Inherit Metab Dis. 2010 Aug;33(4):315-29. doi: 10.1007/s10545-010-9079-5. Epub 2010 May 21. J Inherit Metab Dis. 2010. PMID: 20490930 Review.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: villanueva mm. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Among authors: villanueva mm. Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827498 Free PMC article.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Among authors: villanueva mm. Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929740 Free PMC article. No abstract available.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM. Guelbert N, et al. Among authors: villanueva mm. Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469103 Free PMC article.
Uncovering the Relationship between Selenium Status, Age, Health, and Dietary Habits: Insights from a Large Population Study including Nonagenarian Offspring from the MARK-AGE Project.
Giacconi R, Piacenza F, Aversano V, Zampieri M, Bürkle A, Villanueva MM, Dollé MET, Jansen E, Grune T, Gonos ES, Franceschi C, Capri M, Weinberger B, Sikora E, Toussaint O, Debacq-Chainiaux F, Stuetz W, Slagboom PE, Bernhardt J, Fernández-Sánchez ML, Provinciali M, Malavolta M. Giacconi R, et al. Among authors: villanueva mm. Nutrients. 2023 May 4;15(9):2182. doi: 10.3390/nu15092182. Nutrients. 2023. PMID: 37432362 Free PMC article.
Long-term human spaceflight and inflammaging: Does it promote aging?
Capri M, Conte M, Ciurca E, Pirazzini C, Garagnani P, Santoro A, Longo F, Salvioli S, Lau P, Moeller R, Jordan J, Illig T, Villanueva MM, Gruber M, Bürkle A, Franceschi C, Rittweger J. Capri M, et al. Among authors: villanueva mm. Ageing Res Rev. 2023 Jun;87:101909. doi: 10.1016/j.arr.2023.101909. Epub 2023 Mar 12. Ageing Res Rev. 2023. PMID: 36918115 Free article. Review.
Bacterial DNAemia in Older Participants and Nonagenarian Offspring and Association With Redox Biomarkers: Results From MARK-AGE Study.
Giacconi R, D'Aquila P, Malavolta M, Piacenza F, Bürkle A, Villanueva MM, Dollé MET, Jansen E, Grune T, Gonos ES, Franceschi C, Capri M, Gradinaru D, Grubeck-Loebenstein B, Sikora E, Stuetz W, Weber D, Toussaint O, Debacq-Chainiaux F, Hervonen A, Hurme M, Slagboom PE, Schön C, Bernhardt J, Breusing N, Duncan T, Passarino G, Bellizzi D, Provinciali M. Giacconi R, et al. Among authors: villanueva mm. J Gerontol A Biol Sci Med Sci. 2023 Jan 26;78(1):42-50. doi: 10.1093/gerona/glac154. J Gerontol A Biol Sci Med Sci. 2023. PMID: 35914804 Free PMC article.
24 results