相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The use of diflunisal for transthyretin cardiac amyloidosis: a review
Michel Ibrahim et al.
HEART FAILURE REVIEWS (2022)
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy
David Adams et al.
JOURNAL OF NEUROLOGY (2021)
Tolcapone, a potent aggregation inhibitor for the treatment of familial leptomeningeal amyloidosis
Francisca Pinheiro et al.
FEBS JOURNAL (2021)
Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study
Thibaud Damy et al.
EUROPEAN JOURNAL OF HEART FAILURE (2021)
Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis
Simina Ticau et al.
NEUROLOGY (2021)
Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis
Miguel Alves-Ferreira et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2021)
Transthyretin amyloid deposits in lumbar spinal stenosis and assessment of signs of systemic amyloidosis
P. Eldhagen et al.
JOURNAL OF INTERNAL MEDICINE (2021)
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
David Adams et al.
LANCET NEUROLOGY (2021)
Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression
Marianna Fontana et al.
JACC-CARDIOVASCULAR IMAGING (2021)
Ligand conjugated antisense oligonucleotide for the treatment of transthyretin amyloidosis: preclinical and phase 1 data
Nicholas J. Viney et al.
ESC HEART FAILURE (2021)
Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis
Xiaochen Lin et al.
BMC NEUROLOGY (2021)
HELIOS-A: 9-month results from the phase 3 study of vutrisiran in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy
Davide Adams et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2021)
New effective treatment options reinforce disease awareness: the case of transthyretin cardiac amyloidosis
Stefano Perlini et al.
EUROPEAN JOURNAL OF HEART FAILURE (2021)
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups
David Rintell et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
A circulating, disease-specific, mechanism-linked biomarker for ATTR polyneuropathy diagnosis and response to therapy prediction
Xin Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)
Efficacy of Tafamidis in Patients With Hereditary and Wild-Type Transthyretin Amyloid Cardiomyopathy Further Analyses From ATTR-ACT
Claudio Rapezzi et al.
JACC-HEART FAILURE (2021)
Splenic regression of amyloid on multi-modality imaging in response to treatment with patisiran and diflunisal in hereditary transthyretin amyloidosis
Rishi K. Patel et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2021)
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases
Pablo Garcia-Pavia et al.
EUROPEAN HEART JOURNAL (2021)
The neuropathy in hereditary transthyretin amyloidosis: A narrative review
Stefano Tozza et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2021)
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
Sander F. Garrelfs et al.
NEW ENGLAND JOURNAL OF MEDICINE (2021)
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
Lorenza Magliano et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis
Julian D. Gillmore et al.
NEW ENGLAND JOURNAL OF MEDICINE (2021)
Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden
Juan Gonzalez-Moreno et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
A human antibody selective for transthyretin amyloid removes cardiac amyloid through phagocytic immune cells
Aubin Michalon et al.
NATURE COMMUNICATIONS (2021)
Design and Rationale of the Global Phase 3 NEURO-TTRansform Study of Antisense Oligonucleotide AKCEA-TTR-LRx (ION-682884-CS3) in Hereditary Transthyretin-Mediated Amyloid Polyneuropathy
Teresa Coelho et al.
NEUROLOGY AND THERAPY (2021)
Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being
Andrew Lovley et al.
JOURNAL OF PATIENT-REPORTED OUTCOMES (2021)
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study (vol 20, pg 49, 2021)
D. Adams et al.
LANCET NEUROLOGY (2021)
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases
Pablo Garcia-Pavia et al.
EUROPEAN HEART JOURNAL (2021)
Patisiran Pharmacokinetics, Pharmacodynamics, and Exposure-Response Analyses in the Phase 3 APOLLO Trial in Patients With Hereditary Transthyretin-Mediated (hATTR) Amyloidosis
Xiaoping Zhang et al.
JOURNAL OF CLINICAL PHARMACOLOGY (2020)
Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis
Laura Obici et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2020)
Stabilization of Cardiac Function With Diflunisal in Transthyretin (ATTR) Cardiac Amyloidosis
Graham Lohrmann et al.
JOURNAL OF CARDIAC FAILURE (2020)
Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis
Teresa Coelho et al.
JOURNAL OF NEUROLOGY (2020)
Underlying Immune Disorder May Predispose Some Transthyretin Amyloidosis Subjects to Inotersen-Mediated Thrombocytopenia
PadmaKumar Narayanan et al.
NUCLEIC ACID THERAPEUTICS (2020)
Daratumumab plus CyBorD for patients with newly diagnosed AL amyloidosis: safety run-in results of ANDROMEDA
Giovanni Palladini et al.
BLOOD (2020)
Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial
T. H. Brannagan et al.
EUROPEAN JOURNAL OF NEUROLOGY (2020)
TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients
Orly Moshe-Lilie et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2020)
Disruption of the CD Loop by Enzymatic Cleavage Promotes the Formation of Toxic Transthyretin Oligomers through a Common Transthyretin Misfolding Pathway
Anvesh K. R. Dasari et al.
BIOCHEMISTRY (2020)
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis
Teresa Coelho et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Immunogenicity Assessment of Inotersen, a 2′-O-(2-Methoxyethyl) Antisense Oligonucleotide in Animals and Humans: Effect on Pharmacokinetics, Pharmacodynamics, and Safety
Rosie Z. Yu et al.
NUCLEIC ACID THERAPEUTICS (2020)
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
Antonella De Lillo et al.
CLINICAL EPIGENETICS (2020)
A serine protease secreted from Bacillus subtilis cleaves human plasma transthyretin to generate an amyloidogenic fragment
Daniele Peterle et al.
COMMUNICATIONS BIOLOGY (2020)
Neutrophil-induced ferroptosis promotes tumor necrosis in glioblastoma progression
Patricia P. Yee et al.
NATURE COMMUNICATIONS (2020)
A Narrative Review of the Role of Transthyretin in Health and Disease
Marcia Almeida Liz et al.
NEUROLOGY AND THERAPY (2020)
The Bioequivalence of Tafamidis 61-mg Free Acid Capsules and Tafamidis Meglumine 4 x 20-mg Capsules in Healthy Volunteers
Peter A. Lockwood et al.
CLINICAL PHARMACOLOGY IN DRUG DEVELOPMENT (2020)
Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy
Daniel P. Judge et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)
C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients
Andreia Dias et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis The APOLLO Study
Masatoshi Minamisawa et al.
JAMA CARDIOLOGY (2019)
Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study#
Josep Gamez et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2019)
Burden of hereditary transthyretin amyloidosis on quality of life
Aaron Yarlas et al.
MUSCLE & NERVE (2019)
A comprehensive safety profile of tafamidis in patients with transthyretin amyloid polyneuropathy
Peter Huber et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2019)
Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease
David Adams et al.
NATURE REVIEWS NEUROLOGY (2019)
Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis
Laura Obici et al.
CLINICAL AUTONOMIC RESEARCH (2019)
Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review
Alejandra Gonzalez-Duarte et al.
CLINICAL AUTONOMIC RESEARCH (2019)
Binding of Monovalent and Bivalent Ligands by Transthyretin Causes Different Short-and Long-Distance Conformational Changes
Alessandra Corazza et al.
JOURNAL OF MEDICINAL CHEMISTRY (2019)
Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis: Analysis of the APOLLO Study
Scott D. Solomon et al.
CIRCULATION (2019)
Predictive model of response to tafamidis in hereditary ATTR polyneuropathy
Ceclia Monteiro et al.
JCI INSIGHT (2019)
A new staging system for cardiac transthyretin amyloidosis
Julian D. Gillmore et al.
EUROPEAN HEART JOURNAL (2018)
TTR (Transthyretin) Stabilizers Are Associated With Improved Survival in Patients With TTR Cardiac Amyloidosis
Hannah Rosenblum et al.
CIRCULATION-HEART FAILURE (2018)
Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients
I. Conceicao et al.
EUROPEAN JOURNAL OF NEUROLOGY (2018)
Plasminogen activation triggers transthyretin amyloidogenesis in vitro
P. Patrizia Mangione et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Estimating the global prevalence of transthyretin familial amyloid polyneuropathy
Hartmut H. Schmidt et al.
MUSCLE & NERVE (2018)
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis
D. Adams et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
M. D. Benson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease
Elena S. Klimtchuk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Amyloid seeding of transthyretin by ex vivo cardiac fibrils and its inhibition
Lorena Saelices et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy
Mathew S. Maurer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy
Teresa Coelho et al.
NEUROLOGY (2018)
Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study
Violaine Plante-Bordeneuve et al.
JOURNAL OF NEUROLOGY (2017)
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis
Andrea Iorio et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy
Andrea Cortese et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)
Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease
Ana Rocha et al.
TRANSPLANTATION REVIEWS (2017)
Inhibition of the mechano-enzymatic amyloidogenesis of transthyretin: role of ligand affinity, binding cooperativity and occupancy of the inner channel
Guglielmo Verona et al.
SCIENTIFIC REPORTS (2017)
Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years
Fabio A. Barroso et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2017)
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)
Diana Santos et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy
Marcia Waddington Cruz et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2016)
Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin
Jeffrey N. Higaki et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2016)
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area
A. Cortese et al.
JOURNAL OF NEUROLOGY (2016)
Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity
Ricardo Sant'Anna et al.
NATURE COMMUNICATIONS (2016)
Personalized medicine approach for optimizing the dose of tafamidis to potentially ameliorate wild-type transthyretin amyloidosis (cardiomyopathy)
Younhee Cho et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2015)
Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases
Joao Melo Beirao et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2015)
Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis
Yoshiki Sekijima et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2015)
A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis
Julien Marcoux et al.
EMBO MOLECULAR MEDICINE (2015)
Rapid progression of familial amyloidotic polyneuropathy A multinational natural history study
David Adams et al.
NEUROLOGY (2015)
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy
A. S. Carr et al.
NEUROMUSCULAR DISORDERS (2015)
Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component
Duncan B. Richards et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Ole B. Suhr et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative?
Bo-Goran Ericzon et al.
TRANSPLANTATION (2015)
Cooperative Stabilization of Transthyretin by Clusterin and Diflunisal
Michael J. Greene et al.
BIOCHEMISTRY (2015)
CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings
Luis F. Maia et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)
Left ventricular deformation and torsion assessed by speckle-tracking echocardiography in patients with mutated transthyretin-associated cardiac amyloidosis and the effect of diflunisal on myocardial function
Jun Koyama et al.
IJC HEART & VASCULATURE (2015)
Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations
Dorota M. Rowczenio et al.
HUMAN MUTATION (2014)
Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Va130Met) in a Japanese endemic area
Ryoichi Takahashi et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease
Jonas Wixner et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis
P. Patrizia Mangione et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis
Teresa Coelho et al.
CURRENT MEDICAL RESEARCH AND OPINION (2013)
Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy
P. Lozeron et al.
EUROPEAN JOURNAL OF NEUROLOGY (2013)
Repurposing Diflunisal for Familial Amyloid Polyneuropathy A Randomized Clinical Trial
John L. Berk et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)
Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy
Teresa Coelho et al.
JOURNAL OF NEUROLOGY (2013)
Fibroblasts endocytose and degrade transthyretin aggregates in transthyretin-related amyloidosis
Yohei Misumi et al.
LABORATORY INVESTIGATION (2013)
AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin
Sravan C. Penchala et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study
Laura Obici et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2012)
Tafamidis for transthyretin familial amyloid polyneuropathy A randomized, controlled trial
Teresa Coelho et al.
NEUROLOGY (2012)
Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade
Christine E. Bulawa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Evidence for a Functional Role of the Molecular Chaperone Clusterin in Amyloidotic Cardiomyopathy
Michael J. Greene et al.
AMERICAN JOURNAL OF PATHOLOGY (2011)
Clusterin Overexpression and Its Possible Protective Role in Transthyretin Deposition in Familial Amyloidotic Polyneuropathy
Joana Magalhaes et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Synergy of combined Doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models
Isabel Cardoso et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2010)
Tetracycline and its analogues protect Caenorhabditis elegans from β amyloid-induced toxicity by targeting oligomers
Luisa Diomede et al.
NEUROBIOLOGY OF DISEASE (2010)
Natural history and outcome in systemic AA amyloidosis
Helen J. Lachmann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis
Yoshiki Sekijima et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2006)
Doxycycline disrupts transthyretin amyloid: evidence from studies in a FAP transgenic mice model
I. Cardoso et al.
FASEB JOURNAL (2006)
Amyloid deposits in transthyretin-derived amyloidosis:: cleaved transthyretin is associated with distinct amyloid morphology
J Bergström et al.
JOURNAL OF PATHOLOGY (2005)
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy:: complexity in a single-gene disease
ML Soares et al.
HUMAN MOLECULAR GENETICS (2005)
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
ML Soares et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Up-regulation of the extracellular matrix remodeling genes, biglycan, neutrophil gelatinase-associated lipocalin and matrix metalloproteinase-9 in familial amyloid polyneuropathy
MM Sousa et al.
FASEB JOURNAL (2004)
Trans-suppression of misfolding in an amyloid disease
P Hammarström et al.
SCIENCE (2001)
Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants
A Quintas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)