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CERN IRRADIATION FACILITIES.
Pozzi F, Alia RG, Brugger M, Carbonez P, Danzeca S, Gkotse B, Jaekel MR, Ravotti F, Silari M, Tali M. Pozzi F, et al. Among authors: brugger m. Radiat Prot Dosimetry. 2018 Aug 1;180(1-4):120-124. doi: 10.1093/rpd/ncx187. Radiat Prot Dosimetry. 2018. PMID: 29036715
New radiation protection calibration facility at CERN.
Brugger M, Carbonez P, Pozzi F, Silari M, Vincke H. Brugger M, et al. Radiat Prot Dosimetry. 2014 Oct;161(1-4):181-4. doi: 10.1093/rpd/nct318. Epub 2013 Dec 9. Radiat Prot Dosimetry. 2014. PMID: 24327753
74 Ge( n , γ ) cross section below 70 keV measured at n_TOF CERN.
Lederer-Woods C, Aberle O, Andrzejewski J, Audouin L, Bécares V, Bacak M, Balibrea J, Barbagallo M, Barros S, Battino U, Bečvář F, Beinrucker C, Berthoumieux E, Billowes J, Bosnar D, Brugger M, Caamaño M, Calviño F, Calviani M, Cano-Ott D, Cardella R, Casanovas A, Castelluccio DM, Cerutti F, Chen YH, Chiaveri E, Colonna N, Cortés G, Cortés-Giraldo MA, Cosentino L, Damone LA, Diakaki M, Domingo-Pardo C, Dressler R, Dupont E, Durán I, Fernández-Domínguez B, Ferrari A, Ferreira P, Finocchiaro P, Furman V, Göbel K, García AR, Gawlik-Ramięga A, Glodariu T, Gonçalves IF, González-Romero E, Goverdovski A, Griesmayer E, Guerrero C, Gunsing F, Harada H, Heftrich T, Heinitz S, Heyse J, Jenkins DG, Jericha E, Käppeler F, Kadi Y, Katabuchi T, Kavrigin P, Ketlerov V, Khryachkov V, Kimura A, Kivel N, Kokkoris M, Krtička M, Leal-Cidoncha E, Leeb H, Lerendegui-Marco J, Meo SL, Lonsdale SJ, Losito R, Macina D, Marganiec J, Martínez T, Massimi C, Mastinu P, Mastromarco M, Matteucci F, Maugeri EA, Mendoza E, Mengoni A, Milazzo PM, Mingrone F, Mirea M, Montesano S, Musumarra A, Nolte R, Oprea A, Patronis N, Pavlik A, Perkowski J, Porras I, Praena J, Quesada JM, Rajeev K, Rauscher T, Reifarth R… See abstract for full author list ➔ Lederer-Woods C, et al. Among authors: brugger m. Eur Phys J A Hadron Nucl. 2022;58(12):239. doi: 10.1140/epja/s10050-022-00878-5. Epub 2022 Dec 9. Eur Phys J A Hadron Nucl. 2022. PMID: 36514540 Free PMC article.
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.
Parvizi T, Klotz S, Keritam O, Caliskan H, Imhof S, König T, Haider L, Traub-Weidinger T, Wagner M, Brunet T, Brugger M, Zimprich A, Rath J, Stögmann E, Gelpi E, Cetin H. Parvizi T, et al. Among authors: brugger m. Ann Clin Transl Neurol. 2024 Apr 30. doi: 10.1002/acn3.52075. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38689506 Free article.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: brugger m. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
133 results