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

Year Number of Results
2013 2
2014 2
2015 2
2016 3
2017 1
2018 2
2019 2
2020 4
2021 5
2022 3
2023 1
2024 1

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25 results

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Page 1
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: rusmini m. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Tabarini N, Biagi E, Uva P, Iovino E, Pippucci T, Seri M, Cavalli A, Ceccherini I, Rusmini M, Viti F. Tabarini N, et al. Among authors: rusmini m. Int J Mol Sci. 2022 Oct 26;23(21):12977. doi: 10.3390/ijms232112977. Int J Mol Sci. 2022. PMID: 36361767 Free PMC article. Review.
Targeted re-sequencing in pediatric and perinatal stroke.
Grossi A, Severino M, Rusmini M, Tortora D, Ramenghi LA, Cama A, Rossi A, Di Rocco M, Ceccherini I, Bertamino M; Gaslini Stroke Study Group. Grossi A, et al. Among authors: rusmini m. Eur J Med Genet. 2020 Nov;63(11):104030. doi: 10.1016/j.ejmg.2020.104030. Epub 2020 Aug 18. Eur J Med Genet. 2020. PMID: 32818659
Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.
Papa R, Rusmini M, Volpi S, Dell'Orso G, Giarratana MC, Caorsi R, Giardino S, Bocca P, Barone P, Severino M, Ceccherini I, Gattorno M, Faraci M. Papa R, et al. Among authors: rusmini m. Pediatr Allergy Immunol. 2022 Jan;33(1):e13711. doi: 10.1111/pai.13711. Epub 2021 Dec 11. Pediatr Allergy Immunol. 2022. PMID: 34894360 No abstract available.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: rusmini m. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T, Schmitteckert S, Volz J, Martínez C, Röth R, Thumberger T, Eckstein V, Scheuerer J, Thöni C, Lasitschka F, Carstensen L, Günther P, Holland-Cunz S, Hofstra R, Brosens E, Rosenfeld JA, Schaaf CP, Schriemer D, Ceccherini I, Rusmini M, Tilghman J, Luzón-Toro B, Torroglosa A, Borrego S, Sze-Man Tang C, Garcia-Barceló M, Tam P, Paramasivam N, Bewerunge-Hudler M, De La Torre C, Gretz N, Rappold GA, Romero P, Niesler B. Mederer T, et al. Among authors: rusmini m. PLoS Genet. 2020 Nov 5;16(11):e1009106. doi: 10.1371/journal.pgen.1009106. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33151932 Free PMC article.
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Del Borrello G, Miano M, Micalizzi C, Lupia M, Ceccherini I, Grossi A, Cavalli A, Gustincich S, Rusmini M, Faraci M, Dell'Orso G, Ramenghi U, Mesini A, Ricci E, Schiavone M, Di Iorgi N, Dufour C. Del Borrello G, et al. Among authors: rusmini m. Front Immunol. 2022 May 19;13:893000. doi: 10.3389/fimmu.2022.893000. eCollection 2022. Front Immunol. 2022. PMID: 35663969 Free PMC article.
25 results