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PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, pp. e0173086 - e0173086
Aim: Cardiac troponins and natriuretic peptides are established for risk stratification in light-chain amyloidosis. Data on cardiac biomarkers in transthyretin... 
WILD-TYPE | BRAIN NATRIURETIC PEPTIDE | LIVER-TRANSPLANTATION | FIBRIL COMPOSITION | MYOCARDIAL-INFARCTION | HEREDITARY | MULTIDISCIPLINARY SCIENCES | DISEASE SEVERITY | CARDIOMYOPATHY | TROPONIN-T | SENILE SYSTEMIC AMYLOIDOSIS | Amyloidogenesis | Myocardial infarction | Brain | Senile | Heart attacks | Demography | Peptides | Syngeneic grafts | Cardiomyopathy | Laboratories | Liver | Transplantation | Ethics | Body mass index | Calcium-binding protein | Population | Bioindicators | Cardiology | Heart diseases | Genotypes | Public health | Age | Medical personnel | Heart failure | Brain natriuretic peptide | New York | Review boards | Fibrils | Data processing | Renal system | Breast cancer | Coronary heart disease | Mutants | Troponin | Medical prognosis | Light chains | Natriuretic peptide | Data collection | Biomarkers | β-Amyloid | Amyloidosis | Skin | Ventricle | Mutation | Liver transplantation | Kidney transplantation | Cancer | Phenotype | Troponin T - blood | Amyloid Neuropathies, Familial - genetics | Humans | Genotype | Surveys and Questionnaires | Biomarkers - blood | Natriuretic Peptide, Brain - blood | Amyloid Neuropathies, Familial - physiopathology | Troponin I - blood | Research | Biological markers | Health aspects | Risk factors | Natriuretic peptides | Index Medicus | Kardiologi | Clinical Medicine | Cardiac and Cardiovascular Systems | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 07/2016, Volume 68, Issue 2, pp. 161 - 172
Background Transthyretin amyloidosis (ATTR) is a heterogeneous disorder with multiorgan involvement and a genetic or nongenetic basis. Objectives The goal of... 
transthyretin | amyloid | aging | DIAGNOSIS | POLYNEUROPATHY | CARDIAC & CARDIOVASCULAR SYSTEMS | ACID SCINTIGRAPHY | HEART-FAILURE | PRESERVED EJECTION FRACTION | PREDICTIVE-VALUE | BLACK-AMERICANS | TC-99M-DPD SCINTIGRAPHY | SYSTEMIC AMYLOIDOSIS | MYOCARDIAL-CONTRACTION FRACTION | Peptides | Transplants & implants | Pulmonary arteries | United States--US | Diabetic neuropathy | Family medical history | Multivariate analysis | Quality of life | Confidence intervals | Body mass index | Genotype & phenotype | Mutation | Heart | Demography | ROW other regions of the world | Val122Ile valine-to-isoleucine substitution at position 122 | wt-ATTR wild-type transthyretin amyloidosis | mBMI modified body mass index | TTR-CM transthyretin cardiomyopathy | LVEDD left ventricular end-diastolic dimension | Pain | ATTR transthyretin amyloidosis | Blood pressure | Amyloid | QOL quality of life | Age | Genotypes | BMI body mass index | MCF myocardial contraction fraction | SV stroke volume | Mortality | EDV end-diastolic volume | Data processing | LV left ventricular | Survival | Walking | HFpEF heart failure in the setting of a preserved ejection fraction | TTR transthyretin | mt-ATTR mutated or hereditary transthyretin amyloidosis | Amyloidosis | Amyloid - genetics | Prealbumin - genetics | United States - epidemiology | Prognosis | Survival Rate - trends | Amyloid Neuropathies, Familial - genetics | Amyloid Neuropathies, Familial - metabolism | Humans | Middle Aged | Genotype | Male | Amyloid Neuropathies, Familial - epidemiology | Incidence | Cardiomyopathies - genetics | Cardiomyopathies - epidemiology | Phenotype | Amyloid - metabolism | Prealbumin - metabolism | Cardiomyopathies - metabolism | Female | Registries | Surveys and Questionnaires | Aged | Index Medicus | Abridged Index Medicus | Clinical Medicine | Neurology | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin
Journal Article
REVUE DE MEDECINE INTERNE, ISSN 0248-8663, 05/2019, Volume 40, Issue 5, pp. 323 - 329
Lysozyme amyloidosis is a non-neuropathic hereditary amyloidosis identified in 1993. About fifty cases of this rare, probably under-diagnosed disease are... 
VARIANT LYSOZYME | Hereditary amyloidosis | INVOLVEMENT | CAMELID ANTIBODY FRAGMENT | FAMILY | TRANSPLANTATION | MEDICINE, GENERAL & INTERNAL | Histopathological | HEREDITARY | DEPOSITS | MUTATION | LIVER | Genetics | Lysozyme
Journal Article
Orvosi Hetilap, ISSN 0030-6002, 07/2010, Volume 151, Issue 29, pp. 1182 - 1189
Journal Article
Revue de Medecine Interne, ISSN 0248-8663, 2018
Lysozyme amyloidosis is a non-neuropathic hereditary amyloidosis identified in 1993. About fifty cases of this rare, probably under-diagnosed disease are... 
Histopathological | Hereditary amyloidosis | Genetics | Lysozyme
Journal Article
Journal Article
Circulation, ISSN 0009-7322, 05/2014, Volume 129, Issue 18, pp. 1840 - 1849
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 10/2018, Volume 72, Issue 17, pp. 2051 - 2053
Recent advances have dramatically altered the therapeutic landscape, rendering systemic amyloidosis with cardiac involvement a treatable disease, affording... 
cardiac amyloidosis | carpal tunnel syndrome | light chain | amyloid | transthyretin | CARDIAC & CARDIOVASCULAR SYSTEMS | STENOSIS | WILD-TYPE TRANSTHYRETIN | HEART-FAILURE | HEREDITARY TRANSTHYRETIN AMYLOIDOSIS | IDENTIFICATION | ATTR | Heart failure | Carpal tunnel syndrome | Medical diagnosis | Studies | Proteins | Biopsy | Amyloidosis | Clinical medicine | Hand surgery
Journal Article
Neurotherapeutics, ISSN 1933-7213, 4/2014, Volume 11, Issue 2, pp. 450 - 461
Transthyretin (TTR) amyloidoses comprise a wide spectrum of acquired and hereditary diseases triggered by extracellular deposition of toxic TTR aggregates in... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Transthyretin | Molecular tweezers | Amyloid | Neurosurgery | Familial amyloidotic polyneuropathy | FIBRIL FORMATION | POLYNEUROPATHY | MECHANISM | DEPOSITION | TOXICITY | VARIANT | NEUROSCIENCES | CLINICAL NEUROLOGY | BETA-PROTEIN | PHARMACOLOGY & PHARMACY | SYSTEMIC AMYLOIDOSIS | INHIBITORS | AGGREGATION | Stomach | Humans | Cells, Cultured | Mice, Transgenic | Organophosphates | Index Medicus | Animals | Prealbumin | Bridged-Ring Compounds | Amyloid Neuropathies, Familial | Mice | Colon | CLR01 compound | Ganglia, Spinal | Disease Models, Animal | Peripheral nervous system | Cell culture | Animal models | Oligomerization | Neurodegenerative diseases | transthyretin | Hydrophobicity | Electrostatic properties | Western blotting | Stress | Hereditary diseases | Self-assembly | Neurotoxicity | Amyloidosis | Oxidation | Alzheimer's disease | Endoplasmic reticulum | Movement disorders | Apoptosis | Prealbumin - genetics | Bridged-Ring Compounds - therapeutic use | Colon - drug effects | Organophosphates - therapeutic use | Organophosphates - pharmacology | Prealbumin - metabolism | Bridged-Ring Compounds - pharmacology | Amyloid Neuropathies, Familial - drug therapy | Ganglia, Spinal - drug effects | Stomach - drug effects | Proteins | Oligomers | Development and progression | Analysis
Journal Article
Human Mutation, ISSN 1059-7794, 09/2014, Volume 35, Issue 9, pp. E2403 - E2412
Journal Article
Current Opinion in Cardiology, ISSN 0268-4705, 07/2018, Volume 33, Issue 5, pp. 571 - 579
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2016, Volume 53, Issue 5, pp. 762 - 769
IntroductionHereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice... 
cranial neuropathy | amyloidosis | gelsolin | bilateral facial paresis | facial paresis grading | Facial paresis grading | Amyloidosis | Gelsolin | Cranial neuropathy | Bilateral facial paresis | GSN GENE | NEUROSCIENCES | FINNISH TYPE FAF | POLYNEUROPATHY TYPE-IV | CLINICAL NEUROLOGY | LATTICE CORNEAL-DYSTROPHY | HEARING-LOSS | NEUROPATHY | FAMILIAL AMYLOIDOSIS | MERETOJAS SYNDROME | HEREDITARY AMYLOIDOSIS | MUTATION | Wood products | Workshops | Cornea | Motor units | Muscles | Facial nerve | Acoustics | Surgery | Cranial nerves | Point mutation | Skin | Dystrophy | Age | Injuries | EMG | Bell's palsy | Vestibulocochlear Nerve Diseases - physiopathology | Cutis Laxa - etiology | Humans | Middle Aged | Vestibulocochlear Nerve Diseases - etiology | Oculomotor Nerve Diseases - etiology | Male | Amyloid Neuropathies, Familial - physiopathology | Facial Nerve Diseases - etiology | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | Facial Paralysis - physiopathology | Aged, 80 and over | Adult | Female | Electromyography | Amyloidosis - complications | Cranial Nerve Diseases - physiopathology | Hypoglossal Nerve Diseases - etiology | Trigeminal Nerve Diseases - physiopathology | Trigeminal Nerve Diseases - etiology | Amyloid Neuropathies, Familial - complications | Amyloidosis - physiopathology | Neural Conduction | Facial Nerve Diseases - physiopathology | Oculomotor Nerve Diseases - physiopathology | Facial Muscles - physiopathology | Cranial Nerve Diseases - etiology | Corneal Dystrophies, Hereditary - complications | Aged | Facial Paralysis - etiology | Development and progression | Paralysis, Facial | Gene mutations | Index Medicus
Journal Article