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Neuro-Ophthalmology, ISSN 0165-8107, 2018, pp. 1 - 3
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 08/2016, 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 | IKAP | Familial Dysautonomia
Journal Article
Journal of Neurophysiology, ISSN 0022-3077, 12/2018, Volume 120, Issue 6, pp. 2788 - 2795
Patients with hereditary sensory and autonomic neuropathy type In (HSAN III) exhibit marked ataxia, including gait disturbances. We recently showed that... 
Ataxia | Microneurography | HSAN III | Muscle spindles | muscle spindles | LOW-THRESHOLD MECHANORECEPTORS | PHYSIOLOGY | NEUROSCIENCES | MANUAL DEXTERITY | FAMILIAL DYSAUTONOMIA | RESPONSES | ataxia | JOINT MOVEMENTS | microneurography | MOTOR | STRAIN SENSITIVITY | SKIN | CUTANEOUS AFFERENTS PROVIDE | KNEE-JOINT
Journal Article
CLINICAL GENETICS, ISSN 0009-9163, 04/2007, Volume 71, Issue 4, pp. 311 - 319
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We... 
pain | ERYTHERMALGIA | SCLEROSTEOSIS | SENSORY NEURONS | INSENSITIVITY | mutation | SODIUM-CHANNEL BLOCKERS | genetics | sodium channel | CIP (congenital indifference to pain) | SCN9A | AUTONOMIC NEUROPATHIES | GENETICS & HEREDITY | DISORDER | HSAN | LINKAGE ANALYSIS | Na(v)1.7 | ANALGESIA
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe... 
Charcot joints | CIPA | Heterotopic ossifications | HSAN-IV | Novel NTRK1 gene mutation
Journal Article
Basic and Clinical Neuroscience, ISSN 2008-126X, 01/2013, Volume 4, Issue 1, pp. 15 - 16
  Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose their feeling of pain. The disease is... 
CIPA | HSAN | NTRK1 gene
Journal Article
Journal Article
by Goldberg and MacFarlane and MacDonald and Thompson and Dube and Mattice and Fraser and Young and Hossain and Pape and Payne and Radomski and Donaldson and Ives and Cox and Younghusband and Green and Duff and Boltshauser and Grinspan and Dimon and Sibley and Andria and Toscano and Kerdraon and Bowsher and Pimstone and Samuels and Sherrington and Hayden
Clinical Genetics, ISSN 0009-9163, 04/2007, Volume 71, Issue 4, pp. 311 - 319
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
Journal Article
2018
Congenital insensitivity to pain (CIP) is an extremely rare inherited disorder characterised by the inability to perceive physical pain from birth, resulting... 
HSAN | pain | TRKA | NGF
Dissertation
Journal of Clinical Investigation, ISSN 0021-9738, 12/2011, Volume 121, Issue 12, pp. 4735 - 4745
Journal Article
Innovations in Clinical Neuroscience, ISSN 2158-8333, 11/2018, Volume 15, Issue 11-12, pp. 33 - 35
Pain insensitivity disorders are rare; however, when individuals are insensitive to pain, they are significantly more vulnerable to physical injuries, with... 
SCN9A mutation | Hereditary sensory and autonomic neuropathy Type IID | HSAN IID | CIP | Congenital insensitivity to pain | hereditary sensory and autonomic neuropathy Type IID | Case Report
Journal Article
Immunity, ISSN 1074-7613, 05/2019, Volume 50, Issue 5, pp. 1218 - 1231.e5
Journal Article
Brain, ISSN 0006-8950, 04/2011, Volume 134, Issue 4, pp. 1116 - 1126
Journal Article