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المؤلفون: Rudolf Ganger, Ali Al Kaissi, Franz Grill
المصدر: Ortopediâ, Travmatologiâ i Vosstanovitelʹnaâ Hirurgiâ Detskogo Vozrasta, Vol 7, Iss 1, Pp 81-86 (2019)
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, 03 medical and health sciences, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Arthropathy, Hereditary sensory and autonomic neuropathy, Medicine, Orthopedics and Sports Medicine, Joint dislocation, Anhidrosis, 030222 orthopedics, business.industry, hereditary sensory and autonomic neuropathy type v, atypical charcot joint, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, Surgery, medicine.anatomical_structure, Familial dysautonomia, Pediatrics, Perinatology and Child Health, medicine.symptom, Ankle, business, 030217 neurology & neurosurgery, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d184543845af1b09d681ea9bd76d0e49Test
https://journals.eco-vector.com/turner/article/viewFile/11635/9125Test -
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المصدر: Auton Neurosci
مصطلحات موضوعية: Bradycardia, medicine.medical_specialty, Sudden death, Article, Death, Sudden, 03 medical and health sciences, Cellular and Molecular Neuroscience, Sleep Apnea Syndromes, 0302 clinical medicine, Risk Factors, Internal medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, Humans, Medicine, Carotid Body, Endocrine and Autonomic Systems, business.industry, Dysautonomia, Sleep apnea, medicine.disease, Sleep Apnea, Central, Chemoreceptor Cells, Hypoventilation, Familial dysautonomia, Cardiology, Neurology (clinical), medicine.symptom, business, Hypercapnia, 030217 neurology & neurosurgery, Brain Stem
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ce916e628e10d74c3db89566036525Test
https://doi.org/10.1016/j.autneu.2019.02.003Test -
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المؤلفون: Lea Ann Chen, Scott M. Smukalla, Joseph Levy, Abraham Khan, Lucy Norcliffe-Kaufmann, Christy L. Spalink, Jose-Alberto Palma, Chethan Ramprasad, Horacio Kaufmann, Yian Zhang
المصدر: Clin Auton Res
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Abdominal pain, Neurology, Gastrointestinal Diseases, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Surveys and Questionnaires, Internal medicine, Diabetes mellitus, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, Prevalence, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, Gastrointestinal dysmotility, Endocrine and Autonomic Systems, business.industry, Neurogastroenterology, medicine.disease, Familial dysautonomia, Gastrostomy tube, Neurology (clinical), Patient Care, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a91998450ca8b168c03a00018de5e4cTest
https://europepmc.org/articles/PMC7906911Test/ -
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المؤلفون: Lucy Norcliffe-Kaufmann, Lyndon J. Smith, Vaughan G. Macefield, Jose-Alberto Palma, Horacio Kaufmann
المصدر: The Journal of physiologyReferences. 598(16)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Physiology, Elbow, Muscle spindle, Knee Joint, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Hereditary sensory and autonomic neuropathy, Elbow Joint, medicine, Humans, Knee, Ataxic Gait, Muscle Spindles, Proprioception, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Familial dysautonomia, Upper limb, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c274ef5fe8f9f342b552530d95b6796aTest
https://pubmed.ncbi.nlm.nih.gov/32557664Test -
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المؤلفون: Frances Lefcort, Yumi Ueki, Lynn George, Sarah B. Ohlen, Marc Mergy
المصدر: Clin Auton Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Central nervous system, Neural degeneration, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, medicine, Animals, Humans, Amyotrophic lateral sclerosis, IKBKAP, Endocrine and Autonomic Systems, business.industry, Stem Cells, medicine.disease, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Familial dysautonomia, Neurology (clinical), business, Neural development, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234071500e677d8c97e52d3aadc21c8Test
https://doi.org/10.1007/s10286-017-0438-2Test -
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المؤلفون: Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort
المصدر: Disease Models & Mechanisms, Vol 10, Iss 5, Pp 605-618 (2017)
مصطلحات موضوعية: lcsh:R, lcsh:Pathology, Elongator, lcsh:Medicine, Hereditary sensory and autonomic neuropathy, Familial dysautonomia, lcsh:RB1-214
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doajarticles::a5e7ec2cd2f817319cdfe4f1a3d36bafTest
http://dmm.biologists.org/content/10/5/605Test -
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المؤلفون: Moshe Ashkenazi, Bat-El Bar Aluma, Adi Dagan, Avishay Lahad, Ifat Sarouk, Ori Efrati, Lucy Norcliffe-Kaufmann, Yael Bezalel, Daphna Vilozni
المصدر: Journal of pediatric gastroenterology and nutrition. 68(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Nutritional Status, Disease, Gastroenterology, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Thinness, 030225 pediatrics, Internal medicine, Hereditary sensory and autonomic neuropathy, medicine, Dysautonomia, Familial, Humans, In patient, Resting energy expenditure, Lung, Retrospective Studies, business.industry, Dysautonomia, Retrospective cohort study, Calorimetry, Indirect, medicine.disease, Skinfold Thickness, Familial dysautonomia, Pediatrics, Perinatology and Child Health, 030211 gastroenterology & hepatology, Female, medicine.symptom, business, Energy Metabolism, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f400dfcf4538636d0836f8320fa1817Test
https://pubmed.ncbi.nlm.nih.gov/30334929Test -
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المؤلفون: Wardiya Afshar Saber, Amy J. Wang, Lee L. Rubin, Kush Kapur, Christian Brenneis, Clifford J. Woolf, Kevin Eggan, Lee Barrett, Júlia Teixeira Oliveira, Seungkyu Lee, Canan Bilgin, Naomi Tsujimoto, Cassidy Mellin, Isaac M. Chiu, Justin K. Ichida, Elizabeth D. Buttermore, Eric A. Huebner, Brian J. Wainger
المصدر: Nature neuroscience
مصطلحات موضوعية: Male, Sensory Receptor Cells, Cell, Models, Neurological, TRPV1, Pain, Mice, Transgenic, Cell fate determination, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Dysautonomia, Familial, Animals, Humans, 030304 developmental biology, Inflammation, Mice, Knockout, 0303 health sciences, General Neuroscience, Nociceptors, Peripheral Nervous System Diseases, Fibroblasts, medicine.disease, 3. Good health, Electrophysiological Phenomena, Mice, Inbred C57BL, medicine.anatomical_structure, nervous system, Familial dysautonomia, Nociceptor, Neuroscience, Reprogramming, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a65884bbd8801206e073cfea1a5b3aTest
http://europepmc.org/articles/PMC4429606Test -
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مصطلحات موضوعية: 0301 basic medicine, Mitochondrion, Biology, 03 medical and health sciences, Mice, 0302 clinical medicine, Piperidines, Ganglia, Spinal, Hereditary sensory and autonomic neuropathy, Oximes, medicine, OMIM : Online Mendelian Inheritance in Man, Dysautonomia, Familial, Animals, Humans, Amyotrophic lateral sclerosis, Multidisciplinary, IKBKAP, Cell Death, Intracellular Signaling Peptides and Proteins, Dysautonomia, Biological Sciences, medicine.disease, Axons, Mice, Mutant Strains, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Familial dysautonomia, Peripheral nervous system, medicine.symptom, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405a9222adebb1170141afdfd6a2e91dTest
https://europepmc.org/articles/PMC5441694Test/ -
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المؤلفون: Carlos E. Mendoza-Santiesteban, Joel Gutierrez, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Horacio Kaufmann, Vaughan G. Macefield
المصدر: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 129(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Vestibular evoked myogenic potential, Extraocular muscles, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physiology (medical), Internal medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Vestibular system, IKBKAP, business.industry, Middle Aged, medicine.disease, Vestibular Evoked Myogenic Potentials, Sensory Systems, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Neurology, Vestibular Diseases, Familial dysautonomia, Mutation, Gait Ataxia, Female, Neurology (clinical), Transcriptional Elongation Factors, business, Carrier Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c861fe1a6d569fdb81458602fb986915Test
https://pubmed.ncbi.nlm.nih.gov/29289840Test