المؤلفون: Kijung Sung, Wanlin Yang, William C. Mobley, Michael T. Maloney, Luiz F. Ferrari, Matthew L. Pearn, ChiHye Chung, Chengbiao Wu, Yingli Gu, Jon D. Levine, Bianxiao Cui, Kai Zhang, Xiaobei Zhao, Suzhen Lin

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 38, iss 14

مصطلحات موضوعية: Male, Nociception, 0301 basic medicine, sensory neuron, Tropomyosin receptor kinase A, Medical and Health Sciences, PC12 Cells, Rats, Sprague-Dawley, Mice, 0302 clinical medicine, Neurotrophic factors, Receptors, Nerve Growth Factor, Hereditary sensory and autonomic neuropathy, Hereditary Sensory and Autonomic Neuropathies, Receptor, Research Articles, Cells, Cultured, NGF, Cultured, TrkA, trophic, Chemistry, Growth Factor, General Neuroscience, Pain Research, 3T3 Cells, Cell biology, medicine.anatomical_structure, Neurological, Hyperalgesia, Chronic Pain, medicine.symptom, Signal transduction, Protein Binding, Signal Transduction, p75, Cells, Mutation, Missense, Nerve Tissue Proteins, Receptors, Nerve Growth Factor, Biology, 03 medical and health sciences, medicine, Animals, Humans, Receptors, Growth Factor, Receptor, trkA, Peripheral Neuropathy, Neurology & Neurosurgery, Psychology and Cognitive Sciences, Wild type, Neurosciences, medicine.disease, Sensory neuron, Rats, HEK293 Cells, 030104 developmental biology, Nerve growth factor, nervous system, Mutation, Sprague-Dawley, Missense, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cccb38002beb168e3299036c766c3a3Test
https://doi.org/10.1523/jneurosci.1686-17.2018Test

المؤلفون: Thomas, J Sproule

المصدر: 新潟医学会雑誌. 131(11):655-663

مصطلحات موضوعية: Dystonia musculorum(dt)マウス, Bullous pemphigoid(BP), epidermolysis bullosa simplex(EBS), 水庖性類天庖瘡, Dst-e(Bpagle,BP230), Hereditary sensory and autonomic neuropathy type VI(HSAN6), Dst ^アリール, 単純性表皮水庖症, 遺伝性感覚性自律神経性ニューロパチーVI型

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=jairo_______::abca7614f72137ecacb1cf471e250e0eTest
https://niigata-u.repo.nii.ac.jp/records/8176Test

المؤلفون: Kwo Wei David Ho, Nivedita U. Jerath

المصدر: Case Reports in Genetics
Case Reports in Genetics, Vol 2018 (2018)

مصطلحات موضوعية: 0301 basic medicine, Mutation, lcsh:QH426-470, business.industry, Point mutation, Autosomal dominant trait, Case Report, Sensory loss, Sensory system, General Medicine, medicine.disease_cause, medicine.disease, Bioinformatics, Phenotype, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy type I, medicine, SPTLC1, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e1e8a5964dcd8cb6710cad81c8f725Test
https://doi.org/10.1155/2018/1898151Test

المؤلفون: Ingo Kurth, Sujatha Jagadeesh, B. Suresh, Vaishnavi Reddy

المصدر: Neuro-Ophthalmology. 43:310-312

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Prenatal diagnosis, Case Reports, medicine.disease, Dermatology, Frameshift mutation, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Episodic fever, Hereditary sensory and autonomic neuropathy, 030221 ophthalmology & optometry, Medicine, Neurology (clinical), Anhidrosis, medicine.symptom, business, 030217 neurology & neurosurgery, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf0643ab8121a32f3f5757cb915e01cTest
https://doi.org/10.1080/01658107.2018.1506937Test

المؤلفون: Kouji TAKAHASHI, Mai HATTANDA, Yasushi KAWAGUCHI, 八反田 麻衣, 川口 泰, 高橋 浩師

المصدر: 日本口腔外科学会雑誌 / Japanese Journal of Oral and Maxillofacial Surgery. 2016, 62(2):95

المؤلفون: Yoichi Otomi, Masafumi Harada, Mihoko Sasahara, Hiroki Yamazaki, Takashi Abe

المصدر: Clinical Nuclear Medicine. 46:227-228

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, High body temperature, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Myocardial scintigraphy, Internal medicine, Hereditary sensory and autonomic neuropathy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Hereditary Sensory and Autonomic Neuropathies, business.industry, 123i mibg, Myocardium, Myocardial Perfusion Imaging, Biological Transport, General Medicine, medicine.disease, 3-Iodobenzylguanidine, 030220 oncology & carcinogenesis, Cardiology, Hereditary peripheral neuropathy, Autonomic neuropathy, business, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e5c53880bf3791004ee663f7544be9Test
https://doi.org/10.1097/rlu.0000000000003461Test

المؤلفون: Einarsdottir, Elisabet, 1974

المساهمون: Holmberg, Dan, Professor, Holmgren, Gösta, Professor, Gyllensten, Ulf, Professor

المصدر: Umeå University medical dissertations.

مصطلحات موضوعية: Genetics, isolated populations, linkage disequilibrium, linkage analysis, genome-wide scan, hereditary sensory and autonomic neuropathy, type 1 diabetes mellitus, type 2 diabetes mellitus, autoimmune thyroid disease, Genetik, MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik, medicinsk genetik, Medical Genetics

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499Test
https://umu.diva-portal.org/smash/get/diva2:143620/FULLTEXT01.pdfTest

المؤلفون: Elif Yaman, Zeynep Aytepe, Nazlı Altin, Elif Ince, Duygu Ofluoglu, Hakkı Tanyeri

المصدر: Journal of Istanbul University Faculty of Dentistry, Vol 50, Iss 2, Pp 49-53 (2016)
Volume: 50, Issue: 2 49-53
Journal of Istanbul University Faculty of Dentistry

مصطلحات موضوعية: medicine.medical_specialty, Dental needs, Sensory system, Removable partial prosthesis, 03 medical and health sciences, 0302 clinical medicine, Tongue, Hereditary sensory and autonomic neuropathy, Medicine, Oral mucosa, 030223 otorhinolaryngology, business.industry, Hereditary sensory and autonomic neuropathy,type IV,Dental needs, Articles, Biological Sciences, medicine.disease, Dermatology, Dental Attrition, Surgery, lcsh:RK1-715, stomatognathic diseases, medicine.anatomical_structure, Biting, Dentistry, lcsh:Dentistry, Reflex, Etiology, Type IV, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::761e7322523920b0dc7aac3e9b8a1f18Test
http://www.journals.istanbul.edu.tr/iudis/article/view/5000139358/5000162498Test

المؤلفون: Federica Boso, Gian Maria Fabrizi, Federica Taioli, Moreno Ferrarini, Lucilla Nobbio, Tiziana Cavallaro, Andrea Armirotti

المصدر: Neurology Genetics. 5:e365

مصطلحات موضوعية: 0301 basic medicine, Genetics, Atlastin, Mutation, hereditary sensory and autonomic neuropathy type 1 (HSAN-I), SPTLC1 mutation, deoxysphingolipids, biomarkers, Serine C-palmitoyltransferase, Biology, medicine.disease, medicine.disease_cause, Sphingolipid, DNA methyltransferase, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Neurology (clinical), SPTLC1, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2d5455352866a9245cba0a47393e9eTest
https://doi.org/10.1212/nxg.0000000000000365Test

المؤلفون: Boso, Federica, Armirotti, Andrea, Taioli, Federica, Ferrarini, Moreno, Nobbio, Lucilla, Cavallaro, Tiziana, Fabrizi, Gian Maria

المساهمون: Boso, Federica, Armirotti, Andrea, Taioli, Federica, Ferrarini, Moreno, Nobbio, Lucilla, Cavallaro, Tiziana, Fabrizi, Gian Maria

مصطلحات موضوعية: hereditary sensory and autonomic neuropathy type 1 (HSAN-I), SPTLC1 mutation, deoxysphingolipid, biomarkers

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31742231; info:eu-repo/semantics/altIdentifier/wos/WOS:000512893600003; volume:5; issue:e365; firstpage:1; lastpage:3; numberofpages:3; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11562/1004367Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088783506; https://ng.neurology.org/content/5/6/e365Test; https://doi.org/10.1212/NXG.0000000000000365Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000365Test
http://hdl.handle.net/11562/1004367Test
https://ng.neurology.org/content/5/6/e365Test