Lista de obras - Laura Obici - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2005

A practical approach to the diagnosis of systemic amyloidoses.

artículo científico publicado en 2015

Acquired and inherited amyloidosis: knowledge driving patients' care

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2003

Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

Classification criteria for autoinflammatory recurrent fevers

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Clinical aspects of systemic amyloid diseases.

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

artículo científico publicado en 2013

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

article

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Protein Aggregation

artículo científico publicado en 2001

Proteomics in protein misfolding diseases.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial

artículo científico publicado en 2013

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

artículo científico publicado en 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?

artículo científico publicado en 2018

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

artículo científico publicado en 2003

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

The Diflunisal Trial: study accrual and drug tolerance

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

The workings of the amyloid diseases

artículo científico publicado en 2007

Therapeutic advances demand accurate typing of amyloid deposits

artículo científico publicado en 2001

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Lista de obras de Laura Obici

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

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

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

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

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy

A practical approach to the diagnosis of systemic amyloidoses.

Acquired and inherited amyloidosis: knowledge driving patients' care

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

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

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

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

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

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

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.

Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy

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

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

Burden of hereditary transthyretin amyloidosis on quality of life

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

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

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

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

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

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

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

Classification criteria for autoinflammatory recurrent fevers

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

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

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

Clinical aspects of systemic amyloid diseases.

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

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

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

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

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

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

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

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

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

Eprodisate for the treatment of renal disease in AA amyloidosis.

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

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

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

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

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

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

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

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

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

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

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

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

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

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

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

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

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

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

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

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

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

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

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

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

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

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

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

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

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

Plasminogen activation triggers transthyretin amyloidogenesis

Prognostication of survival and progression to dialysis in AA amyloidosis

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

Protein Aggregation

Proteomics in protein misfolding diseases.

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

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

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

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