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List of works by Laura Obici

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

scientific article

A Narrative Review of the Role of Transthyretin in Health and Disease

scientific article published on 01 October 2020

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

scientific article

A modified high-dose dexamethasone regimen for primary systemic (AL) amyloidosis

scientific article published on 01 June 2001

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy

scientific article published in October 2005

A practical approach to the diagnosis of systemic amyloidoses.

scientific article published on 30 January 2015

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

scientific article published on May 31, 2012

Acquired and inherited amyloidosis: knowledge driving patients' care

scientific article published on 06 May 2020

Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.

scientific article

Amyloid fibrils derived from the apolipoprotein A1 Leu174Ser variant contain elements of ordered helical structure

scientific article

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome

scientific article published on 01 November 2018

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

scientific article published on 30 September 2019

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

scientific article

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

scientific article published on 24 July 2019

Association of melphalan and high-dose dexamethasone is effective and well tolerated in patients with AL (primary) amyloidosis who are ineligible for stem cell transplantation.

scientific article

Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy

scientific article published on 01 September 2018

Benefit of doxycycline treatment on articular disability caused by dialysis related amyloidosis.

scientific article published on 4 June 2013

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

scientific article published on 3 March 2012

Burden of hereditary transthyretin amyloidosis on quality of life

scientific article published on 13 June 2019

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

scientific article

Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

scientific article published on 29 July 2016

Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study

scientific article published on 07 June 2016

Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study.

scientific article

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene

scientific article published on April 2011

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

scientific article published on 2 May 2012

Circulating amyloidogenic free light chains and serum N-terminal natriuretic peptide type B decrease simultaneously in association with improvement of survival in AL.

scientific article published on 24 January 2006

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

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

scientific article published on April 2016

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

scientific article published on 07 August 2020

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

scientific article published on 31 May 2016

Clinical aspects of systemic amyloid diseases.

scientific article

Conformational switching and fibrillogenesis in the amyloidogenic fragment of apolipoprotein a-I.

scientific article published on 5 November 2002

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

scientific article

Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features

scientific article published on 12 May 2020

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

scientific article published on 26 August 2019

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

scientific article

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

scientific article published on 23 November 2015

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

scientific article

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

scientific article published on 08 October 2013

Effects of the Known Pathogenic Mutations on the Aggregation Pathway of the Amyloidogenic Peptide of Apolipoprotein A-I

article

Eprodisate for the treatment of renal disease in AA amyloidosis.

scientific article

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 01 May 2016

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

scientific article published on 01 May 2015

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

scientific article published in September 2016

Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis

article

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

scientific article

First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS). ⬇️

scientific article

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

scientific article

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

scientific article

Hereditary apolipoprotein A1 amyloidosis with cutaneous and cardiac involvement: a long familial history

scientific article published on 01 March 2014

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

scientific article published on 12 December 2012

Identification of Amyloidogenic Light Chains Requires the Combination of Serum-Free Light Chain Assay with Immunofixation of Serum and Urine

scientific article published on 08 January 2009

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

scientific article published on 16 March 2013

Infertility and Hypergonadotropic Hypogonadism as First Evidence of Hereditary Apolipoprotein A-I Amyloidosis

article

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

scientific article published on 01 July 2018

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

scientific article published on 03 July 2019

Late-Onset Familial Mediterranean Fever: An Atypical Presentation of Dermatologic Interest

scientific article published on 01 August 2007

Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families

scientific article

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

scientific article published on March 2005

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

scientific article published on 06 June 2016

Mass spectrometry-based proteomics as a diagnostic tool when immunoelectron microscopy fails in typing amyloid deposits ⬇️

scientific article published on June 1, 2011

Melphalan and dexamethasone with or without bortezomib in newly diagnosed AL amyloidosis: a matched case–control study on 174 patients

scientific article published on 25 July 2014

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

scientific article published on 09 November 2011

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 16 March 2016

Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel ‘hot spot’ in codon 47

article

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

scientific article published in March 2006

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

scientific article published on 4 August 2014

Oral melphalan and dexamethasone grants extended survival with minimal toxicity in AL amyloidosis: long-term results of a risk-adapted approach.

scientific article

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

scientific article published on 27 November 2018

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome

scientific article

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

scientific article published on 06 January 2020

Plasminogen activation triggers transthyretin amyloidogenesis

scientific article published in Journal of Biological Chemistry

Prognostication of survival and progression to dialysis in AA amyloidosis

scientific article published on 01 March 2017

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy

scientific article published on 07 September 2018

Protein Aggregation

scientific article published on 01 November 2001

Proteomic characterization of amyloid deposits in transthyretin amyloidosis associated with various mutations ⬇️

scientific article published on 01 June 2011

Proteomics in protein misfolding diseases.

scientific article published in January 2009

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

scientific article

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

scientific article

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

scientific article published on 13 September 2011

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis

scientific article published on 12 October 2005

Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial

scientific article

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

scientific article published on 30 April 2011

Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice

scientific article published on 10 July 2019

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

scientific article published on 01 November 2018

Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis

scientific article published on 28 April 2003

Simple, reliable detection of amyloid in fat aspirates using the fluorescent dye FSB: prospective study in 206 patients

scientific article published on 06 June 2019

Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types.

scientific article

The Diflunisal Trial: study accrual and drug tolerance

scientific article published on 2 May 2012

The combination of high-sensitivity cardiac troponin T (hs-cTnT) at presentation and changes in N-terminal natriuretic peptide type B (NT-proBNP) after chemotherapy best predicts survival in AL amyloidosis

scientific article published on 19 July 2010

The combination of thalidomide and intermediate-dose dexamethasone is an effective but toxic treatment for patients with primary amyloidosis (AL).

scientific article published on 30 November 2004

The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up

scientific article published on 12 December 2013

The intracellular quality control system down-regulates the secretion of amyloidogenic apolipoprotein A-I variants: A possible impact on the natural history of the disease

scientific article published on 15 July 2010

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

scientific article published on 3 April 2015

The repertoire of λ light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44.

scientific article published on 8 November 2011

The workings of the amyloid diseases

scientific article published on January 2007

Therapeutic advances demand accurate typing of amyloid deposits

scientific article published on 01 August 2001

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

scientific article published on 24 January 2019

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

scientific article published in February 2011

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

scientific article

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

scientific article

Treatment with oral melphalan plus dexamethasone produces long-term remissions in AL amyloidosis

scientific article published on 01 July 2007

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

scientific article published on 7 January 2015

Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults.

scientific article published on July 2011

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

scientific article published in June 2011

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

scientific article published on 21 July 2015

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