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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 2
1998 1
1999 1
2001 3
2002 2
2003 2
2004 3
2005 2
2006 3
2007 1
2009 5
2010 6
2011 5
2012 5
2013 7
2014 4
2015 4
2016 4
2017 5
2018 10
2019 14
2020 8
2021 11
2022 7
2023 7
2024 7
2025 1

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114 results

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Page 1
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: de las heras j. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: de las heras j. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Spatial Genome Organization: From Development to Disease.
Sivakumar A, de Las Heras JI, Schirmer EC. Sivakumar A, et al. Among authors: de las heras ji. Front Cell Dev Biol. 2019 Mar 21;7:18. doi: 10.3389/fcell.2019.00018. eCollection 2019. Front Cell Dev Biol. 2019. PMID: 30949476 Free PMC article. Review.
Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease.
Delgado TC, de Las Heras J, Martínez-Chantar ML. Delgado TC, et al. Among authors: de las heras j. Front Endocrinol (Lausanne). 2022 Dec 15;13:1058101. doi: 10.3389/fendo.2022.1058101. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589817 Free PMC article. Review.
Repo-Man/PP1 regulates heterochromatin formation in interphase.
de Castro IJ, Budzak J, Di Giacinto ML, Ligammari L, Gokhan E, Spanos C, Moralli D, Richardson C, de Las Heras JI, Salatino S, Schirmer EC, Ullman KS, Bickmore WA, Green C, Rappsilber J, Lamble S, Goldberg MW, Vinciotti V, Vagnarelli P. de Castro IJ, et al. Among authors: de las heras ji. Nat Commun. 2017 Jan 16;8:14048. doi: 10.1038/ncomms14048. Nat Commun. 2017. PMID: 28091603 Free PMC article.
STING nuclear partners contribute to innate immune signaling responses.
Dixon CR, Malik P, de Las Heras JI, Saiz-Ros N, de Lima Alves F, Tingey M, Gaunt E, Richardson AC, Kelly DA, Goldberg MW, Towers GJ, Yang W, Rappsilber J, Digard P, Schirmer EC. Dixon CR, et al. Among authors: de las heras ji. iScience. 2021 Aug 28;24(9):103055. doi: 10.1016/j.isci.2021.103055. eCollection 2021 Sep 24. iScience. 2021. PMID: 34541469 Free PMC article.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A. de Castro MJ, et al. Among authors: de las heras j. Orphanet J Rare Dis. 2024 Jun 25;19(1):244. doi: 10.1186/s13023-024-03219-5. Orphanet J Rare Dis. 2024. PMID: 38918870 Free PMC article.
114 results