المؤلفون: Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore

المصدر: Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 16, Iss 7, Pp 136-139 (2023)

مصطلحات موضوعية: congenital corneal anesthesia, congenital insensitivity to pain with anhidrosis (cipa), hereditary sensory neuropathy type iv, hsan iv, hsnan4, Medicine

وصف الملف: electronic resource

العلاقة: http://www.mjdrdypv.org/article.asp?issn=2589-8302;year=2023;volume=16;issue=7;spage=136;epage=139;aulast=NaikTest; https://doaj.org/toc/2589-8302Test; https://doaj.org/toc/2589-8310Test

الوصول الحر: https://doaj.org/article/daa3da282de14a4797cd7462b2f04732Test

المؤلفون: Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia

المصدر: Biomedicines; Volume 11; Issue 6; Pages: 1565

مصطلحات موضوعية: hereditary sensory neuropathy, structural variation, ATL3, NGS, CovCopCan

وصف الملف: application/pdf

العلاقة: Neurobiology and Neurologic Disease; https://dx.doi.org/10.3390/biomedicines11061565Test

الإتاحة: https://doi.org/10.3390/biomedicines11061565Test

المؤلفون: Laura Behrendt, Christian Hoischen, Christoph Kaether

المصدر: Neurobiology of Disease, Vol 155, Iss , Pp 105400- (2021)

مصطلحات موضوعية: Atlastin, Axonopathy, Hereditary sensory neuropathy, Endoplasmic reticulum, Autophagy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996121001492Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/3216c1dd35794fba99cd858490d16657Test

المؤلفون: Clark, AJ, Kugathasan, U, Baskozos, G, Priestman, DA, Fugger, N, Lone, MA, Othman, A, Chu, KH, Blesneac, I, Wilson, ER, Laurà, M, Kalmar, B, Greensmith, L, Hornemann, T, Platt, FM, Reilly, MM, Bennett, DL

المصدر: Cell Reports Medicine , 2 (7) , Article 10034. (2021)

مصطلحات موضوعية: hereditary sensory neuropathy type 1, HSN1, serine palmitoyltransferase, SPT, serine palmitoyltransferase long-chain base subunit 1, SPTLC1, 1-deoxySLBs, DSBs, sphingolipid, ganglioside, sensory neuron, myelin, axon, l-serine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10132384Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10132384Test/

المؤلفون: Barros, Pedro, Morais, Hugo, Santos, Catarina, Roriz, José, Coutinho, Paula

المصدر: Arquivos de Neuro-Psiquiatria. April 2014 72(4)

مصطلحات موضوعية: cough, hereditary sensory neuropathy, reflux

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000400269Test

المؤلفون: Kelly, Carolyn M., Zeiger, Peter J., Narayanan, Vinodh, Ramsey, Keri, Sondermann, Holger

المصدر: The Journal of Biological Chemistry
The journal of biological chemistry 298(1), 101438 (2022). doi:10.1016/j.jbc.2021.101438

مصطلحات موضوعية: Protein Conformation, membrane tethering, MLV, multilamellar vesicle, DRP, dynamin-related protein, FRET, Förster resonance energy transfer, HSN, hereditary sensory neuropathy, EEG, electroencephalogram, GTP Phosphohydrolases, ER, endoplasmic reticulum, GTP-Binding Proteins, Humans, ddc:610, CP, cerebral palsy, GED, GTPase effector domain, GTPase, HSP, hereditary spastic paraplegia, Spastic Paraplegia, Hereditary, BSE, bundle signaling element, Membrane Proteins, ATL1, atlastin-1, WT, wild-type, Mutagenesis, Insertional, TKO, triple-knockout, Mutation, ACTH, adrenocorticotropic hormone, neuropathy, MRI, magnetic resonance imaging, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ae4587531d6d7ae408deb09c6a347eTest
http://europepmc.org/articles/PMC8688574Test

المؤلفون: Stimpson, Scott E. (S30150), Lauto, Antonio (R12400), Coorssen, Jens R. (R12196), Myers, Simon J. (R12333)

المساهمون: School of Science and Health (Host institution), School of Medicine (Host institution)

مصطلحات موضوعية: 030401 - Biologically Active Molecules, 920111 - Nervous System and Disorders, proteins, oxidative stress, endoplasmic reticulum, serine, hereditary sensory neuropathy type 1

وصف الملف: print

العلاقة: Biochemistry and Analytical Biochemistry--2161-1009 Vol. 5 Issue. 1 No. 1000248

الإتاحة: https://doi.org/10.4172/2161-1009.1000248Test
http://hdl.handle.net/1959.7/uws:38406Test

المؤلفون: Stimpson, Scott E. (S30150), Shanu, Anu (R18242), Coorssen, Jens R. (R12196), Myers, Simon J. (R12333)

المساهمون: Molecular Medicine Research Group (Host institution)

مصطلحات موضوعية: XXXXXX - Unknown, Hereditary sensory neuropathy type 1, degeneration, Coactosin, nervous system

وصف الملف: print

العلاقة: World Journal of Neuroscience--2162-2000--2162-2019 Vol. 6 Issue. 4 pp: 325-347

الإتاحة: https://doi.org/10.4236/wjns.2016.64035Test
http://handle.westernsydney.edu.au:8081/1959.7/uws:38364Test

المؤلفون: Rossor, AM, Tomaselli, PJ, Reilly, MM

المصدر: Current Opinion in Neurology , 29 (5) pp. 537-548. (2016)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Charcot-Marie-Tooth Disease, Hereditary Motor And Sensory Neuropathy, Hereditary Motor Neuropathy, Hereditary Sensory Neuropathy, Treatment, Marie-Tooth-Disease, Phenotypic Variability, Mouse Models, Mutations, Combination, Inhibitors, Therapy, Promote, Pxt3003, 1A

وصف الملف: text; image

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1524652/1/Rossor_Revised%2520final%2520main%2520manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1524652/7/Rossor_Highlights.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1524652/20/Rossor_Figure%25201.tifTest; https://discovery.ucl.ac.uk/id/eprint/1524652/25/Rossor_Figure%25202.tifTest; https://discovery.ucl.ac.uk/id/eprint/1524652/30/Rossor_Figure%25203.tifTest; https://discovery.ucl.ac.uk/id/eprint/1524652/37/Rossor_Figure%25204.tifTest; https://discovery.ucl.ac.uk/id/eprint/1524652/13/Rossor_Supplementary%2520table%25201.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1524652Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1524652/1/Rossor_Revised%2520final%2520main%2520manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1524652/7/Rossor_Highlights.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1524652/20/Rossor_Figure%25201.tifTest
https://discovery.ucl.ac.uk/id/eprint/1524652/25/Rossor_Figure%25202.tifTest
https://discovery.ucl.ac.uk/id/eprint/1524652/30/Rossor_Figure%25203.tifTest
https://discovery.ucl.ac.uk/id/eprint/1524652/37/Rossor_Figure%25204.tifTest
https://discovery.ucl.ac.uk/id/eprint/1524652/13/Rossor_Supplementary%2520table%25201.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1524652Test/

المؤلفون: Angoori Gnaneshwar Rao

المصدر: Indian Journal of Dermatology, Vol 61, Iss 1, Pp 121-121 (2016)

مصطلحات موضوعية: Hereditary sensory neuropathy, nerve conduction studies, painless ulcer, Dermatology, RL1-803

العلاقة: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=1;spage=121;epage=121;aulast=RaoTest; https://doaj.org/toc/0019-5154Test; https://doaj.org/toc/1998-3611Test; https://doaj.org/article/113cfe783b6446348f87bd7d4992c8a2Test

الإتاحة: https://doi.org/10.4103/0019-5154.174132Test
https://doaj.org/article/113cfe783b6446348f87bd7d4992c8a2Test