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1دورية أكاديمية
المؤلفون: Williams, Erik A, Ravindranathan, Ajay, Gupta, Rohit, Stevers, Nicholas O, Suwala, Abigail K, Hong, Chibo, Kim, Somang, Yuan, Jimmy Bo, Wu, Jasper, Barreto, Jairo, Lucas, Calixto-Hope G, Chan, Emily, Pekmezci, Melike, LeBoit, Philip E, Mully, Thaddeus, Perry, Arie, Bollen, Andrew, Van Ziffle, Jessica, Devine, W Patrick, Reddy, Alyssa T, Gupta, Nalin, Basnet, Kristen M, Macaulay, Robert JB, Malafronte, Patrick, Lee, Han, Yong, William H, Williams, Kevin Jon, Juratli, Tareq A, Mata, Douglas A, Huang, Richard SP, Hiemenz, Matthew C, Pavlick, Dean C, Frampton, Garrett M, Janovitz, Tyler, Ross, Jeffrey S, Chang, Susan M, Berger, Mitchel S, Jacques, Line, Song, Jun S, Costello, Joseph F, Solomon, David A
المصدر: Neuro-Oncology. 25(12)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Cancer, Human Genome, Neurosciences, Biotechnology, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Humans, INDEL Mutation, Transcriptional Activation, Neurilemmoma, Neuroma, Acoustic, Mutation, Nerve Sheath Neoplasms, SOXE Transcription Factors, myelination, PMP2, Schwann cell, schwannoma, SOX10, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Oncology and carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6zq333xtTest
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2دورية أكاديمية
المؤلفون: Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco PISANI, carlo fusco
المساهمون: Baga, Margherita, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Pisani, Francesco, Fusco, Carlo
مصطلحات موضوعية: Charcot–Marie–Tooth, PMP2 gene, anticipation, demyelinating
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37238449; info:eu-repo/semantics/altIdentifier/wos/WOS:000998126400001; volume:10; issue:5; firstpage:901; journal:CHILDREN; https://hdl.handle.net/11573/1682208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160360923
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3دورية أكاديمية
المؤلفون: Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters, Albena Jordanova
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1162-xTest; https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
المصدر: Chinese Medical Journal, Vol 131, Iss 2, Pp 151-155 (2018)
مصطلحات موضوعية: BSCL2, Charcot-Marie-Tooth Disease, PMP2, SH3TC2, Medicine
وصف الملف: electronic resource
العلاقة: http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=2;spage=151;epage=155;aulast=ZhaoTest; https://doaj.org/toc/0366-6999Test
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5
المؤلفون: Matthew P. Blakeley, Adam Cohen Simonsen, Saara Laulumaa, Petri Kursula, Salla Ruskamo, Martin Berg Klenow, M. Uusitalo
المصدر: 'FEBS Journal ', vol: 288, pages: 6716-6735 (2021)
Uusitalo, M, Klenow, M B, Laulumaa, S, Blakeley, M P, Simonsen, A C, Ruskamo, S & Kursula, P 2021, ' Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants ', The FEBS Journal, vol. 288, no. 23, pp. 6716-6735 . https://doi.org/10.1111/febs.16079Test
The FEBS Journal
The FEBS journal 288(23), 6716-6735 (2021). doi:10.1111/febs.16079مصطلحات موضوعية: Circular dichroism, Protein Folding, Protein Conformation, Charcot–Marie–Tooth disease, Molecular Dynamics Simulation, Crystallography, X-Ray, Myelin P2 Protein, Biochemistry, Time-Lapse Imaging, Fatty acid-binding protein, Myelin, Protein structure, Charcot-Marie-Tooth Disease, Fatty acid binding, medicine, lipid binding, Humans, fatty acid-binding protein, ddc:610, Amino Acid Sequence, protein structure, Lipid bilayer, Molecular Biology, Myelin Sheath, Sequence Homology, Amino Acid, Chemistry, Protein Stability, Vesicle, Circular Dichroism, Cell Membrane, Temperature, Cell Biology, PMP2, Crystallography, medicine.anatomical_structure, Microscopy, Fluorescence, Mutation, fatty acidbinding protein, mutation, myelin protein P2
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cff9434fb329d58d0db61740029d2dTest
https://epn-library.esrf.fr/flora/jsp/index_view_direct_anonymous.jsp?record=doc:PUB_ILL:31007Test -
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المؤلفون: Paola Lanteri, Paola Origone, Lucia Trevisan, Valeria Prada, Paola Mandich, Marina Grandis, Paola Fossa, Emilia Bellone, Alessandro Geroldi, Chiara Gemelli, Francesca Veneri, Angelo Schenone
المصدر: Journal of the peripheral nervous system : JPNSREFERENCES. 25(2)
مصطلحات موضوعية: Adult, Male, Biology, Gene mutation, medicine.disease_cause, Myelin P2 Protein, Genetic analysis, DNA sequencing, 03 medical and health sciences, symbols.namesake, PMP2, CMT1, LIPIDS, NEUROPATHY, Young Adult, 0302 clinical medicine, Compact myelin, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, medicine, Humans, Age of Onset, PMP2, Genetics, Sanger sequencing, Mutation, CMT1, General Neuroscience, NEUROPATHY, Infant, Pedigree, 030220 oncology & carcinogenesis, symbols, Female, Neurology (clinical), 030217 neurology & neurosurgery, LIPIDS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68747b2f750ef5ea236d0ff4e56754e0Test
https://pubmed.ncbi.nlm.nih.gov/32277537Test -
7
المؤلفون: Petri Kursula, M. Uusitalo, Saara Laulumaa, Matthew P. Blakeley, Adam Cohen Simonsen, Salla Ruskamo, Martin Berg Klenow
مصطلحات موضوعية: Crystallography, Circular dichroism, Myelin, Membrane, medicine.anatomical_structure, Chemistry, Fatty acid binding, medicine, Stacking, PMP2, Lipid bilayer, Lipid Transport
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1c0d258a0a9952ab8aabf348bc838936Test
https://doi.org/10.1101/2021.04.15.439958Test -
8دورية أكاديمية
المؤلفون: Geroldi A, Prada V, Veneri F, Trevisan L, Origone P, Grandis M, Schenone A, Gemelli C, Lanteri P, Fossa P, Mandich P, Bellone E
المساهمون: Geroldi, A, Prada, V, Veneri, F, Trevisan, L, Origone, P, Grandis, M, Schenone, A, Gemelli, C, Lanteri, P, Fossa, P, Mandich, P, Bellone, E
مصطلحات موضوعية: PMP2, CMT1, LIPIDS, NEUROPATHY
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32277537; info:eu-repo/semantics/altIdentifier/wos/WOS:000530430300001; firstpage:1; lastpage:3; numberofpages:3; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; http://hdl.handle.net/11567/1006335Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085082138
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9
المؤلفون: Lei Liu, Xiaohong Zi, Yongzhi Xie, Yi-Zhou Yan, Ruxu Zhang, Zhengmao Hu, Beisha Tang, Xin Zhao, Mingming Jiang, Kun Xia, Xiaobo Li
المصدر: Chinese Medical Journal, Vol 131, Iss 2, Pp 151-155 (2018)
مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, BSCL2, lcsh:R, lcsh:Medicine, Genomics, General Medicine, Disease, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, SH3TC2, medicine, symbols, Medical genetics, Allele, business, Charcot-Marie-Tooth Disease, PMP2, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16dfe3724475e7382f3ad577b5f99f3eTest
https://doi.org/10.4103/0366-6999.222331Test -
10
المؤلفون: Tamar Harel, Loren Mackay-Loder, Ian Lee, Zeynep Coban-Akdemir, Deborah Terespolsky, Jaya Punetha, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Shalini N. Jhangiani
المصدر: Molecular Genetics and Metabolism. 125:302-304
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Neural Conduction, Disease, Myelin P2 Protein, Biochemistry, Genome, Article, 03 medical and health sciences, Endocrinology, Charcot-Marie-Tooth Disease, Gene panel, Genetics, Humans, Medicine, In patient, Pathology, Molecular, Molecular Biology, business.industry, Peripheral Nervous System Diseases, Inherited Peripheral Neuropathy, PMP2, medicine.disease, nervous system diseases, 030104 developmental biology, Peripheral neuropathy, Mutation, Identification (biology), business, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd8cc1faff7212d7886d400048624a9Test
https://doi.org/10.1016/j.ymgme.2018.08.005Test
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