Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Autor: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri, F. Perfetto, L. G. Pradotto, P. Rimessi, G. Tini, S. Tozza, L. Trevisan, D. Pareyson, P. Mandich

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onset

Externí odkaz: https://doaj.org/article/06f1cac9f11446abaa06ec95182536f4

Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension

Autor: Lars Harbaum, Christopher J. Rhodes, John Wharton, Allan Lawrie, Jason H. Karnes, Ankit A. Desai, William C. Nichols, Marc Humbert, David Montani, Barbara Girerd, Olivier Sitbon, Mario Boehm, Tatyana Novoyatleva, Ralph T. Schermuly, H. Ardeschir Ghofrani, Mark Toshner, David G. Kiely, Luke S. Howard, Emilia M. Swietlik, Stefan Gräf, Maik Pietzner, Nicholas W. Morrell, Martin R. Wilkins, L Southgate, RD Machado, J Martin, WH Ouwehand, MW Pauciulo, A Arora, K Lutz, F Ahmad, SL Archer, R Argula, ED Austin, D Badesch, S Bakshi, C Barnett, R Benza, N Bhatt, CD Burger, M Chakinala, J Elwing, T Fortin, RP Frantz, A Frost, JGN Garcia, J Harley, H He, NS Hill, R Hirsch, D Ivy, J Klinger, T Lahm, K Marsolo, LJ Martin, SD Nathan, RJ Oudiz, Z Rehman, I Robbins, DM Roden, EB Rosenzweig, G Saydain, R Schilz, RW Simms, M Simon, H Tang, AY Tchourbanov, T Thenappan, F Torres, AK Walsworth, RE Walter, RJ White, J Wilt, D Yung, R Kittles, J Aman, J Knight, KB Hanscombe, H Gall, A Ulrich, HJ Bogaard, C Church, JG Coghlan, R Condliffe, PA Corris, C Danesino, CG Elliott, A Franke, S Ghio, JSR Gibbs, AC Houweling, G Kovacs, M Laudes, RV MacKenzie Ross, S Moledina, M Newnham, A Olschewski, H Olschewski, AJ Peacock, J Pepke-Zaba, L Scelsi, W Seeger, CM Shaffer, O Sitbon, J Suntharalingam, C Treacy, A Vonk Noordegraaf, Q Waisfisz, SJ Wort, RC Trembath, M Germain, I Cebola, J Ferrer, P Amouyel, S Debette, M Eyries, F Soubrier, DA Trégouët

Rationale: Pulmonary arterial hypertension (PAH) is characterized by structural remodeling of pulmonary arteries and arterioles. Underlying biological processes are likely reflected in a perturbation of circulating proteins. Objectives: To quantify a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f363dc083e705c01eb9c6d70a4b67afd
https://www.repository.cam.ac.uk/handle/1810/340465

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Diagnosis of glycogenosis type 2

Autor: B. BEMBI, E. CERINI, C. DANESINO, M. A. DONATI, S. GASPERINI, L. MORANDI, O. MUSUMECI, S. RAVAGLIA, F. SEIDITA, A. TOSCANO, A. VIANELLO, PARENTI, GIANCARLO

The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::9a734ff246e786ae9bb9a2f80e85fb9a
http://hdl.handle.net/11588/335642