Laura Obici

Laura Obici

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Laura Obici

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Light Chains With Heavy Effects.

Am J Kidney Dis 2020 Feb 16;75(2):291-293. Epub 2019 Oct 16.

Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2019.08.009DOI Listing
February 2020

Differential serum levels of interleukin-37 in patients with tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):159-160. Epub 2019 May 30.

Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.

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January 2020

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy.

Amyloid 2020 Jan 6:1-6. Epub 2020 Jan 6.

Molecular Neurobiology Group, Instituto de Biologia Molecular e Celular (IBMC) - Instituto de Investigação e Inovação em Saúde (i3S) da Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1080/13506129.2019.1708716DOI Listing
January 2020

An evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis.

Expert Opin Pharmacother 2019 Dec 30;20(18):2223-2228. Epub 2019 Sep 30.

Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1080/14656566.2019.1671352DOI Listing
December 2019

Amyloidosis in Heart Failure.

Curr Heart Fail Rep 2019 Dec;16(6):285-303

Interdisciplinary Amyloidosis Center of Northern Bavaria, University Hospital Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1007/s11897-019-00446-xDOI Listing
December 2019

Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression.

Amyloid 2019 Sep 24;26(3):103-111. Epub 2019 Jul 24.

g Department of Ophthalmology, Bicêtre Hospital Université Paris-Sud, Le Kremlin-Bicêtre, France APHP, DHU Sight Restore, French Reference centre for H-ATTR (NNERF), French Reference Network for Rare Ophthalmic Diseases (OPHTARA) , Le Kremlin-Bicêtre , France.

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https://www.tandfonline.com/doi/full/10.1080/13506129.2019.1
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http://dx.doi.org/10.1080/13506129.2019.1627312DOI Listing
September 2019

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.

Clin Auton Res 2019 Sep 26;29(Suppl 1):55-63. Epub 2019 Aug 26.

Department of Medicine, Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.1007/s10286-019-00628-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763516PMC
September 2019

Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin-mediated amyloidosis.

Expert Rev Clin Pharmacol 2019 Aug 3;12(8):701-711. Epub 2019 Jul 3.

i Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo , Pavia , Italy.

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http://dx.doi.org/10.1080/17512433.2019.1635008DOI Listing
August 2019

Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.

JACC Heart Fail 2019 Aug 10;7(8):709-716. Epub 2019 Jul 10.

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain; University Francisco de Vitoria (UFV), Pozuelo de Alarcon, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jchf.2019.04.010DOI Listing
August 2019

Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis.

Neurodegener Dis Manag 2019 Feb 27;9(1):5-23. Epub 2018 Nov 27.

Amyloidosis Research & Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.

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http://dx.doi.org/10.2217/nmt-2018-0033DOI Listing
February 2019

Seek and You Shall Find: Is Subclinical Amyloid More Common Than Expected?

Mayo Clin Proc 2018 11;93(11):1546-1548

Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2018.09.008DOI Listing
November 2018

Plasminogen activation triggers transthyretin amyloidogenesis .

J Biol Chem 2018 09 17;293(37):14192-14199. Epub 2018 Jul 17.

From the Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London NW3 2PF, United Kingdom,

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http://dx.doi.org/10.1074/jbc.RA118.003990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139548PMC
September 2018

Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy.

Authors:
Laura Obici

Arq Neuropsiquiatr 2018 09;76(9):573-574

Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia Italy.

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http://dx.doi.org/10.1590/0004-282X20180102DOI Listing
September 2018

Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):3-9. Epub 2018 May 3.

Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.

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July 2018

Autoinflammatory diseases as a cause of acute abdominal pain in the emergency department.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):39-43. Epub 2018 May 3.

Emergency Department, ASST-Fatebenefratelli Sacco University Hospital, Milan, Italy.

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July 2018

Renal involvement in autoinflammatory diseases and inflammasome-mediated chronic kidney damage.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):54-60. Epub 2018 May 3.

Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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July 2018

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

N Engl J Med 2018 Jul;379(1):22-31

From the Indiana University School of Medicine, Indianapolis (M.D.B.); Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, National Amyloidosis Referral Center, University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro (M.W.-C.); Amyloidosis Center, Boston University School of Medicine (J.L.B.) and Brigham and Women's Hospital, Harvard Medical School (A.M.S., S.D.S.), Boston; Johns Hopkins University, Baltimore (M.P.); Mayo Clinic, Rochester, MN (P.J.D., W.J.L., M.A.G.); University of California, Irvine, Irvine (A.K.W.); Amyloid Network-Hospital Henri Mondor-Assistance Publique-Hôpitaux de Paris (AP-HP)-Université Paris Est, Créteil, France (V.P.-B.); Institute for Neurologic Research Raúl Carrea, FLENI, Buenos Aires (F.A.B.); Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia (G.M., L.O.), and Unit of Neurology, University Hospital, Messina (G.V.) - both in Italy; Hospital AACD (Associação de Assistência à Criança Deficiente), São Paulo (M.S.); Columbia University Medical Center (T.H.B.) and Mount Sinai Medical Center (P.D.G.), New York; University College London-National Amyloidosis Centre, London (C.W.); Penn Presbyterian Medical Center, University of Pennsylvania Health System, Philadelphia (B.M.D.); Centre Hospitaliere Universitaire Bicêtre, AP-HP, Unité 1195, INSERM, Université Paris-Sud, Paris (D.A.); Oregon Health and Science University, Portland (S.B.H.); Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Lisbon (I.C.), and Centro Hospitalar do Porto, Porto (T.C.) - both in Portugal; Universitätsklinikum Münster, Münster, Germany (H.H.S.); Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (J.M.C.), and Hospital Universitari Vall d'Hebron (J.G.), Barcelona; Auckland City Hospital, Auckland, New Zealand (E.G.); and Ionis Pharmaceuticals, Carlsbad, CA (B.P.M., S.G.H., T.J.K., B.W.M., S.W.J., B.F.B., E.J.A.).

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http://dx.doi.org/10.1056/NEJMoa1716793DOI Listing
July 2018

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

N Engl J Med 2018 05;378(20):1908-1919

From the Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome (F.D.B.), Clinica Pediatrica e Reumatologia, Unità Operativa Semplice Dipartimentale di Malattie Autoinfiammatorie e Immunodeficienze, IRCCS, Istituto G. Gaslini, Genoa (M.G.), the Pediatric Clinic, University of Brescia and Spedali Civili, Brescia (M.C.), and the Amyloidosis Research and Treatment Center, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia (L.O.) - all in Italy; the Division of Pediatric Rheumatology, Hospital Sant Joan de Déu, Universitat de Barcelona (J.A.), and the Internal Medicine Department, Autoimmune and Systemic Diseases Unit, Hospital Vall d'Hebron (S.B.-R.), Barcelona, and the Pediatric Rheumatology Unit, Hospital Universitario y Politécnico La Fe, Valencia (I.C.P.) - all in Spain; the Rheumatology Unit, Hadassah-Hebrew University Hospital (E.B.-C.), and the Pediatric Rheumatology Unit, Shaare Zedek Medical Center (P.J.H.), Jerusalem, and Heller Institute of Medical Research and Medicine Faculty, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (A.L.) - all in Israel; the Division of Pediatrics, University Medical Center Utrecht, Utrecht (J.F.), and the Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen (A. Simon) - both in the Netherlands; the Departments of Pediatrics and Medicine, University of California at San Diego and Rady Children's Hospital San Diego, San Diego (H.M.H.); the Department of Pediatric Rheumatology, Centre de Référence des Maladies Auto-inflammatoires et de l'Amylose Inflammatoire, Centre Hospitalier Universitaire (CHU) de Bicêtre, Assistance Publique-Hopitaux de Paris (APHP), Université de Paris Sud (I.K.-P.), and Paris-Descartes University, Imagine Institute, Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, APHP (P.Q.), Paris; the National Amyloidosis Centre, University College London Division of Medicine, Royal Free Campus (H.J.L.), and University College London, Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust (P.B.), London; the Department of Pediatrics, Hacettepe University, Ankara (S.O.), and the Department of Pediatric Rheumatology, Cerrahpasa Medical School (O.K.), and Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology (A.G.), Istanbul University, Istanbul - all in Turkey; the Department of Pediatrics, Division of Pediatric Rheumatology, Cleveland Clinic, Cleveland (A.Z.); the Department of Infectious Diseases and General Internal Medicine, CHU Sart-Tilman, University of Liège, Liege (M.M.), and the Department of Infectious Diseases and Immunity, Jessa Hospital, University of Hasselt, Hasselt (J.V.H.) - both in Belgium; the Department of Clinical Immunology, Center for Pediatric Hematology, Oncology, and Immunology, Moscow (A. Shcherbina); Pediatric Rheumatology of Western Switzerland, University of Lausanne, Lausanne, (M.H.), and Novartis, Basel (K.L., A. Speziale, G.J.) - both in Switzerland; the Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan (R.H.); and the Department of Pediatrics, Semmelweis Egyetem, Budapest, Hungary (T.C.).

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http://dx.doi.org/10.1056/NEJMoa1706314DOI Listing
May 2018

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

J Rheumatol 2017 Nov 15;44(11):1667-1673. Epub 2017 Sep 15.

From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell'Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L'Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic-Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.3899/jrheum.170041DOI Listing
November 2017

Circulating intercellular adhesion molecule 1 (sICAM-1) in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

Clin Exp Rheumatol 2017 May-Jun;35 Suppl 104(2):13-14. Epub 2017 Apr 4.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, and Istituto per l'Endocrinologia e l'Oncologia Sperimentale, Consiglio Nazionale delle Ricerche (IEOS-CNR), Napoli, Italy.

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August 2017

Differential expression of Cathepsin E in transthyretin amyloidosis: from neuropathology to the immune system.

J Neuroinflammation 2017 06 6;14(1):115. Epub 2017 Jun 6.

i3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Rua Alfredo Allen, 208, 4200-135, Porto, Portugal.

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http://dx.doi.org/10.1186/s12974-017-0891-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460450PMC
June 2017

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy.

J Neurol Neurosurg Psychiatry 2017 05 10;88(5):457-458. Epub 2017 Feb 10.

Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1136/jnnp-2016-315262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529976PMC
May 2017

Prognostication of survival and progression to dialysis in AA amyloidosis.

Amyloid 2017 Mar;24(sup1):136-137

a Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo , Pavia , Italy.

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http://dx.doi.org/10.1080/13506129.2017.1289917DOI Listing
March 2017

Expanding the spectrum of systemic amyloid diseases: a new hint from the kidney.

Kidney Int 2016 09;90(3):479-81

Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.05.029DOI Listing
September 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

J Rheumatol 2016 06 1;43(6):1093-100. Epub 2016 Apr 1.

From the Unità Operativa (UO) Pediatria 2, IRCCS G. Gaslini; Clinica Reumatologica, Dipartimento di Medicina Interna, Università di Genova; Laboratorio di Biologia Cellulare, IRCCS Azienda Ospedaliera Universitaria (AOU) San Martino Istituto Scientifico Tumori (IST); Unità Operativa Complessa (UOC) Genetica Medica, IRCCS G. Gaslini; Università degli Studi di Genova, Genoa; Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia, Siena; Ospedale Bambino Gesù, Rome; Dipartimento di Pediatria, Ospedale Federico II, Naples; Dipartimento di Pediatria, IRCCS Burlo Garofalo, Trieste; Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'Alessandro", Palermo; Centro per lo Studio e la Cura delle Amiloidosi Sistemiche Fondazione IRCCS Policlinico San Matteo, Pavia; Dipartimento Materno-Infantile, Ospedale Gaetano-Martino, Messina, Italy.A. Naselli*, MD, UO Pediatria 2, IRCCS G. Gaslini; F. Penco*, MD, UO Pediatria 2, IRCCS G. Gaslini; L. Cantarini, MD, Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia; A. Insalaco, MD, Ospedale Bambino Gesù; M. Alessio, MD, Dipartimento di Pediatria, Ospedale Federico II; A. Tommasini, MD, Dipartimento di Pediatria, IRCCS Burlo Garofalo; C. Maggio, MD, Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'Alessandro"; L. Obici, MD, Centro per lo Studio e la Cura delle Amiloidosi Sistemiche Fondazione IRCCS Policlinico San Matteo; R. Gallizi, MD, Dipartimento Materno-Infantile, Ospedale Gaetano-Martino; M. Cimmino, MD, Clinica Reumatologica, Dipartimento di Medicina Interna, Università di Genova; S. Signa, MD, UO Pediatria 2, IRCCS G. Gaslini; O.M. Lucherini, MD, Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia; S. Carta, MD, Laboratorio di Biologia Cellulare, IRCCS AOU San Martino IST; F. Caroli, MD, UOC Genetica Medica, IRCCS G. Gaslini; A. Martini, MD, UO Pediatri

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http://dx.doi.org/10.3899/jrheum.150962DOI Listing
June 2016

Vascular alterations in apolipoprotein A-I amyloidosis (Leu75Pro). A case-control study.

Amyloid 2015 25;22(3):187-93. Epub 2015 Jul 25.

a Internal Medicine, Department of Clinical and Experimental Sciences , University of Brescia and Spedali Civili , Brescia , Italy .

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http://dx.doi.org/10.3109/13506129.2015.1066771DOI Listing
May 2016

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome.

J Leukoc Biol 2016 05 23;99(5):761-9. Epub 2015 Nov 23.

Dipartimento di Medicina e Chirurgia, Facoltà di Medicina e Chirurgia, Università degli Studi di Salerno, Baronissi Campus, Baronissi, Salerno, Italy; and IRCCS-MultiMedica, Milano, Italy

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http://dx.doi.org/10.1189/jlb.3A0915-399RDOI Listing
May 2016

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

J Peripher Nerv Syst 2016 Mar;21(1):5-9

Global Medical Affairs, Global Innovative Pharma, Pfizer Inc, New York, NY, USA.

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http://dx.doi.org/10.1111/jns.12153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788142PMC
March 2016

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S3-S13

aDepartment of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey bCHU Bicêtre, Université Paris-Sud, Paris, France cAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy dServicio de Neurología, Hospital Clínico San Carlos, Madrid, Spain eUniversity Hospital Sofiamed, Sofia, Bulgaria fDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden gHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1097/WCO.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739317PMC
February 2016

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S14-26

aFrench Reference Center for FAP (NNERF), CHU Bicêtre (APHP), Université Paris-Sud, FILNEMUS, Paris, France bDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden cUniversität Heidelberg, Heidelberg, Germany dAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy eDepartment of Neurology, Medical University - Sofia, Sofia, Bulgaria fDepartment of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria gInstituto Clínico de Nefrología y Urología ICNU, Barcelona, Spain hHôpital Antoine Beclere, Université Paris-Sud, Clamart, France iUniversity Medical Center Groningen, University of Groningen, Groningen, the Netherlands jHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://pdfs.journals.lww.com/co-neurology/9000/00000/First_E
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http://dx.doi.org/10.1097/WCO.0000000000000289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739312PMC
February 2016

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S27-35

aAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy bDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands cServicio de Medicina Interna, Hospital Son Llatzer, Palma de Mallorca, Spain dCHU Bicêtre (APHP), Université Paris-Sud, Paris, France eDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden fHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal gCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://pdfs.journals.lww.com/co-neurology/9000/00000/Recomme
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739313PMC
February 2016

Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.

Neurology 2015 Aug 24;85(8):675-82. Epub 2015 Jul 24.

From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA.

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http://dx.doi.org/10.1212/WNL.0000000000001870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553033PMC
August 2015

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

Kidney Int 2015 Jun 7;87(6):1223-9. Epub 2015 Jan 7.

Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.

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http://dx.doi.org/10.1038/ki.2014.389DOI Listing
June 2015

Etiology of amyloidosis determines myocardial 99mTc-DPD uptake in amyloidotic cardiomyopathy.

Clin Nucl Med 2015 May;40(5):446-7

From the *Cardiology Unit, and †Nuclear Medicine Unit, Department of Experimental, Diagnostic and Specialty Medicine-DIMES, Alma Mater Studiorum, University of Bologna, Bologna; and ‡Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1097/RLU.0000000000000741DOI Listing
May 2015

A practical approach to the diagnosis of systemic amyloidoses.

Blood 2015 Apr 30;125(14):2239-44. Epub 2015 Jan 30.

Amyloidosis Research and Treatment Center, Department of Molecular Medicine, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia, Pavia, Italy;

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2014-11-60
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http://dx.doi.org/10.1182/blood-2014-11-609883DOI Listing
April 2015

An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis.

Expert Opin Investig Drugs 2014 Sep 8;23(9):1239-51. Epub 2014 Jul 8.

Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo , Viale Golgi, 19, 27100 Pavia , Italy.

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http://dx.doi.org/10.1517/13543784.2014.922541DOI Listing
September 2014

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.

Hum Mutat 2014 Sep 4;35(9):E2403-12. Epub 2014 Aug 4.

Centre for Amyloidosis and Acute Phase Proteins, University College London Medical School, London, UK.

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http://dx.doi.org/10.1002/humu.22619DOI Listing
September 2014

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.

Ann Rheum Dis 2014 Jan 16;73(1):290-7. Epub 2013 Mar 16.

Génétique des maladies Autoinflammatoires et des ostéoarthropathies chroniques, INSERM U844, Hôpital Saint Eloi, Bâtiment INM, , Montpellier, France.

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http://dx.doi.org/10.1136/annrheumdis-2012-203023DOI Listing
January 2014

Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.

J Cardiovasc Transl Res 2013 Dec 8;6(6):1011-20. Epub 2013 Oct 8.

Amyloid Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Via Golgi 19, 27100, Pavia, Italy,

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http://link.springer.com/10.1007/s12265-013-9512-x
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http://dx.doi.org/10.1007/s12265-013-9512-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838581PMC
December 2013

High 99mTc-DPD myocardial uptake in a patient with apolipoprotein AI-related amyloidotic cardiomyopathy.

Amyloid 2013 Mar 12;20(1):48-51. Epub 2012 Dec 12.

Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy.

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http://dx.doi.org/10.3109/13506129.2012.746938DOI Listing
March 2013

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Orphanet J Rare Dis 2013 Feb 20;8:31. Epub 2013 Feb 20.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

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http://dx.doi.org/10.1186/1750-1172-8-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584981PMC
February 2013

Amyloidosis in autoinflammatory syndromes.

Autoimmun Rev 2012 Nov 2;12(1):14-7. Epub 2012 Aug 2.

Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Italy.

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http://dx.doi.org/10.1016/j.autrev.2012.07.016DOI Listing
November 2012

AA amyloidosis: basic knowledge, unmet needs and future treatments.

Swiss Med Wkly 2012 31;142:w13580. Epub 2012 May 31.

Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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http://doi.emh.ch/smw.2012.13580
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October 2012

Changes in tissue proteome associated with ATTR amyloidosis: insights into pathogenesis.

Amyloid 2012 Jun 2;19 Suppl 1:11-3. Epub 2012 May 2.

Institute for Biomedical Technologies Consiglio Nazionale delle Ricerche, Segrate, Italy.

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http://dx.doi.org/10.3109/13506129.2012.674989DOI Listing
June 2012

Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study.

Amyloid 2012 Jun 2;19 Suppl 1:34-6. Epub 2012 May 2.

Amyloid Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, and Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.3109/13506129.2012.678508DOI Listing
June 2012

The Diflunisal Trial: study accrual and drug tolerance.

Amyloid 2012 Jun 2;19 Suppl 1:37-8. Epub 2012 May 2.

Department of Medicine & Data Coordinating Center, Boston University Medical Center, Boston, MA 02118, USA.

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http://dx.doi.org/10.3109/13506129.2012.678509DOI Listing
June 2012

Best use of cardiac biomarkers in patients with AL amyloidosis and renal failure.

Am J Hematol 2012 May 3;87(5):465-71. Epub 2012 Mar 3.

Amyloidosis Research and Treatment Center, Biotechnology Research Laboratories-Department of Molecular Medicine, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo Pavia, Italy.

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http://dx.doi.org/10.1002/ajh.23141DOI Listing
May 2012

Reliable typing of systemic amyloidoses through proteomic analysis of subcutaneous adipose tissue.

Blood 2012 Feb 13;119(8):1844-7. Epub 2011 Sep 13.

Consiglio Nazionale delle Ricerche-Istituto Tecnologie Biomediche, Segrate, Milan, Italy.

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http://dx.doi.org/10.1182/blood-2011-07-365510DOI Listing
February 2012

Salvage therapy with lenalidomide and dexamethasone in patients with advanced AL amyloidosis refractory to melphalan, bortezomib, and thalidomide.

Ann Hematol 2012 Jan 30;91(1):89-92. Epub 2011 Apr 30.

Amyloidosis Research and Treatment Center, Foundation Istituto di Ricovero e Cura a Carattere scientifico Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1007/s00277-011-1244-xDOI Listing
January 2012

Midregional proadrenomedullin (MR-proADM) is a powerful predictor of early death in AL amyloidosis.

Amyloid 2011 Dec 9;18(4):216-21. Epub 2011 Nov 9.

Amyloidosis Research and Treatment Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo and Department of Biochemistry, University of Pavia, Pavia, Italy.

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http://www.tandfonline.com/doi/full/10.3109/13506129.2011.62
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December 2011

Effect of the amyloidogenic L75P apolipoprotein A-I variant on HDL subpopulations.

Clin Chim Acta 2011 Jun 31;412(13-14):1262-5. Epub 2011 Mar 31.

Center Enrica Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1016/j.cca.2011.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096778PMC
June 2011

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.

J Peripher Nerv Syst 2011 Jun;16(2):119-29

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00331.xDOI Listing
June 2011

Treatment of IgM-associated AL amyloidosis with the combination of rituximab, bortezomib, and dexamethasone.

Clin Lymphoma Myeloma Leuk 2011 Feb;11(1):143-5

Department of Biochemistry, Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.3816/CLML.2011.n.033DOI Listing
February 2011

Proteomics in protein misfolding diseases.

Clin Chem Lab Med 2009 ;47(6):627-35

Department of Biochemistry, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1515/CCLM.2009.164DOI Listing
October 2009

Susceptibility to AA amyloidosis in rheumatic diseases: a critical overview.

Arthritis Rheum 2009 Oct;61(10):1435-40

IRCSS Fondazione Policlinico S. Matteo, Pavia, Italy.

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http://doi.wiley.com/10.1002/art.24735
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October 2009

Treatment of patients with advanced cardiac AL amyloidosis with oral melphalan, dexamethasone, and thalidomide.

Ann Hematol 2009 Apr 9;88(4):347-50. Epub 2008 Sep 9.

Biotechnology Research Laboratories, Center for Amyloidosis, Department of Biochemistry, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico San Matteo and University of Pavia, Piazzale Golgi, 19, 27100 Pavia, Italy.

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http://link.springer.com/10.1007/s00277-008-0600-y
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http://dx.doi.org/10.1007/s00277-008-0600-yDOI Listing
April 2009

AL amyloidosis associated with IgM monoclonal protein: a distinct clinical entity.

Clin Lymphoma Myeloma 2009 Mar;9(1):80-3

Center for Amyloidosis, Biotechnology Research Laboratories and Department of Biochemistry, Fondazione Instituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia, Italy.

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http://dx.doi.org/10.3816/CLM.2009.n.021DOI Listing
March 2009

The workings of the amyloid diseases.

Ann Med 2007 ;39(3):200-7

Center for Amyloidosis, Department of Biochemistry, Biotechnology Research Laboratories, Foundation IRCCS Policlinico San Matteo, Pavia, Italy.

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http://www.tandfonline.com/doi/full/10.1080/0785389070120688
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http://dx.doi.org/10.1080/07853890701206887DOI Listing
July 2007

Infertility and hypergonadotropic hypogonadism as first evidence of hereditary apolipoprotein A-I amyloidosis.

J Urol 2007 Jul 15;178(1):344-8. Epub 2007 May 15.

Department of Endocrinology and Andrology, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.juro.2007.03.005DOI Listing
July 2007

Structure, function and amyloidogenic propensity of apolipoprotein A-I.

Amyloid 2006 Dec;13(4):191-205

Centro per lo Studio e la Cura delle Amiloidosi Sistemiche, Laboratorio di Biotecnologie, IRCCS Policlinico San Matteo, Pavia, Italy.

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http://www.tandfonline.com/doi/full/10.1080/1350612060096028
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http://dx.doi.org/10.1080/13506120600960288DOI Listing
December 2006