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Nature, ISSN 0028-0836, 09/2009, Volume 461, Issue 7262, pp. 402 - 406
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 10/2018, Volume Publish Ahead of Print, Issue 3, pp. 422 - 427
OBJECTIVES:Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy characterized by chronic lung disease and cyclic vomiting due to... 
MORTALITY | autonomic | INSPIRATORY CAPACITY | DYSPNEA | BODY-COMPOSITION | MODEL | INHALED BRONCHODILATORS | CHILDREN | resting energy expenditure | familial dysautonomia/HSAN III | malnutrition | NUTRITION & DIETETICS | DISEASE | PEDIATRICS | GASTROENTEROLOGY & HEPATOLOGY | POSITIVE-PRESSURE VENTILATION | Energy metabolism | Dysautonomia | Research | Bioenergetics
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 10/2016, Volume 39, Issue 4, pp. 497 - 514
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.... 
ELP1 | HSAN | Ikbkap | Familial dysautonomia | IKAP | SURAL NERVE | NERVE-GROWTH-FACTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | INNERVATION | ELONGATOR COMPLEX | Familial Dysautonomia | CELL-MIGRATION | GENETICS & HEREDITY | MOUSE IKBKAP GENE | ASHKENAZI JEWS | B KINASE COMPLEX | RILEY-DAY-SYNDROME | Special Series of - 60 Years of The Brazilian Society of Genetics
Journal Article
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 638 - 650
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 ( , also known as ); this... 
ELP1 | familial dysautonomia | therapeutics | neurodegenerative disease | IKAP | splicing | GANGLIA | MOUSE MODEL | DISEASE SEVERITY | TRANSCRIPTION | MUTATION | GENETICS & HEREDITY | SPINAL DEFORMITY | IKBKAP | ATAXIA | ELONGATOR COMPLEX | EXPRESSION | Gene mutations | Physiological aspects | Genetic aspects | Dysautonomia | Research | Risk factors | RNA splicing
Journal Article
JACC: Cardiovascular Imaging, ISSN 1936-878X, 2016, Volume 9, Issue 12, pp. 1432 - 1441
Abstract Objectives This study sought to compare techniques evaluating cardiac dysautonomia and predicting the risk of death of patients with hereditary... 
Cardiovascular | cardiac amyloidosis | cardiac dysautonomia | transthyretin | liver transplantation | cardiac imaging | DIAGNOSIS | POLYNEUROPATHY | CARDIAC & CARDIOVASCULAR SYSTEMS | AUTONOMIC DYSFUNCTION | PROGNOSTIC-FACTORS | EFFICACY | DENERVATION | DIFLUNISAL | THERAPY | HEART-RATE-VARIABILITY | EXPERIENCE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Multivariate Analysis | Prealbumin - genetics | Predictive Value of Tests | Liver Transplantation - adverse effects | Area Under Curve | Humans | Male | Primary Dysautonomias - physiopathology | Autonomic Nervous System - physiopathology | Heart Rate - drug effects | DNA Mutational Analysis | Primary Dysautonomias - mortality | Adult | Female | Registries | Retrospective Studies | Heart - innervation | Primary Dysautonomias - diagnosis | 3-Iodobenzylguanidine - administration & dosage | Genetic Predisposition to Disease | Amyloid Neuropathies, Familial - genetics | Heart Diseases - physiopathology | Risk Factors | Diagnostic Techniques, Cardiovascular | Proportional Hazards Models | Liver Transplantation - mortality | Treatment Outcome | Heart Diseases - diagnosis | Radiopharmaceuticals - administration & dosage | Muscarinic Antagonists - administration & dosage | Phenotype | Heart Diseases - mortality | Neurologic Examination | Primary Dysautonomias - genetics | Amyloid Neuropathies, Familial - surgery | ROC Curve | Amyloid Neuropathies, Familial - mortality | Atropine - administration & dosage | Mutation | Heart Diseases - genetics | Amyloid Neuropathies, Familial - diagnosis | Care and treatment | Usage | Prognosis | Patient outcomes | Liver | Amyloidosis | Transplantation | Dysautonomia | Research | Index Medicus
Journal Article