المؤلفون: Kulsirichawaroj, Pimchanok, Suksangkharn, Yanin, Nam, Da Eun, Pho-Iam, Theeraphong, Limwongse, Chanin, Chung, Ki Wha, Sanmaneechai, Oranee, Zuchner, Stephan L, Choi, Byung-Ok

المصدر: Journal of neuromuscular diseases 11(1), 191 - 199 (2024). doi:10.3233/JND-230174

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Child, Adolescent, Humans, Thailand, Charcot-Marie-Tooth Disease: genetics, Charcot-Marie-Tooth Disease: diagnosis, Mutation, Genotype, Charcot-Marie-Tooth disease, Genotype-phenotype correlations, Inherited peripheral neuropathy, Pediatric-onset

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:37927275; info:eu-repo/semantics/altIdentifier/issn/2214-3599; info:eu-repo/semantics/altIdentifier/issn/2214-3602; https://pub.dzne.de/record/266786Test; https://pub.dzne.de/search?p=id:%22DZNE-2024-00044%22Test

الإتاحة: https://doi.org/10.3233/JND-230174Test
https://pub.dzne.de/record/266786Test
https://pub.dzne.de/search?p=id:%22DZNE-2024-00044%22Test

المؤلفون: Yan Ma, Xiaohui Duan, Xiaoxuan Liu, Dongsheng Fan

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: paediatric Charcot-Marie-Tooth disease, inherited peripheral neuropathy, genetic distribution, genotype-phenotype correlations, de novo variants, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1188361/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/5637a8da5f0b4bb7a04f9ce27c1de6f9Test

المؤلفون: Keckarević Marković, Milica, Kecmanović, Miljana, Keckarević, Dušan

المساهمون: Pavlović, Sonja

المصدر: Trendovi u molekularnoj Biologiji

مصطلحات موضوعية: nasledne periferne neuropatije, masivno paralelno sekvenciranje, strukturne varijacije, Inherited peripheral neuropathy, massive parallel sequencing, structural variants

العلاقة: https://imagine.imgge.bg.ac.rs/handle/123456789/1812Test; https://imagine.imgge.bg.ac.rs/bitstream/id/174327/Genetics_of_inherited_peripheral_neuropathies_renewed_data_2022.pdfTest; https://hdl.handle.net/21.15107/rcub_imagine_1812Test

الإتاحة: https://imagine.imgge.bg.ac.rs/handle/123456789/1812Test
https://imagine.imgge.bg.ac.rs/bitstream/id/174327/Genetics_of_inherited_peripheral_neuropathies_renewed_data_2022.pdfTest
https://hdl.handle.net/21.15107/rcub_imagine_1812Test

المؤلفون: Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

المصدر: Neurobiology of Disease, Vol 164, Iss , Pp 105609- (2022)

مصطلحات موضوعية: Motoneuron, Action potential waveform, VRK1, hiPSC, Inherited peripheral neuropathy, Motor neuron disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996121003582Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/e0889f703ae042e3a01c7a9e37be8b23Test

المؤلفون: Bos, Rémi, Rihan, Khalil, Quintana, Patrice, El-Bazzal, Lara, Bernard-Marissal, Nathalie, da Silva, Nathalie, Jabbour, Rosette, Mégarbané, André, Bartoli, Marc, Brocard, Frédéric, Delague, Valérie

المساهمون: Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Balamand Liban (UOB), Human Genetics Department LAU Gilbert and Rose-Marie Chagoury School of Medicine, Gilbert and Rose-Marie Chagoury School of Medicine Lebanese American University, Lebanese American University (LAU)-Lebanese American University (LAU)

المصدر: ISSN: 0969-9961.

مصطلحات موضوعية: Motoneuron, Action potential waveform, VRK1, hiPSC, Inherited peripheral neuropathy, Motor neuron disease, Axonal initial segment, Firing pattern, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: hal-03520705; https://amu.hal.science/hal-03520705Test; https://amu.hal.science/hal-03520705/documentTest; https://amu.hal.science/hal-03520705/file/Bos_Rihan_VRK1_2022.pdfTest

الإتاحة: https://doi.org/10.1016/j.nbd.2021.105609Test
https://amu.hal.science/hal-03520705Test
https://amu.hal.science/hal-03520705/documentTest
https://amu.hal.science/hal-03520705/file/Bos_Rihan_VRK1_2022.pdfTest

المؤلفون: Bianca deAguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor‐Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

مصطلحات موضوعية: Charcot–Marie–Tooth disease, founder effect, HINT1, inherited peripheral neuropathy, neuromyotonia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/8751b0dbad844852a1befa242ef5bb1eTest

المؤلفون: Hui Wang, Jiaxi Yu, Meng Yu, Jianwen Deng, Wei Zhang, He Lv, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Daojun Hong, Lingchao Meng, Zhaoxia Wang, Yun Yuan

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: inherited peripheral neuropathy, motor–sensory and autonomic neuropathy, NOTCH2NLC, GGC repeat expansions, NOTCH2NLC-related repeat expansion spectrum, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.694790/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/baf556b23fb44c2cba70813a1d5f758fTest

المؤلفون: Grace McMacken, Roger G. Whittaker, Ruth Wake, Hanns Lochmuller, Rita Horvath

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Journal of Neurology. 270:3112-3119

مصطلحات موضوعية: Neuromuscular junction (NMJ), Myasthenic Syndromes, Congenital, Neuromuscular Junction, Distal hereditary motor neuropathy (dHMN), Charcot-Marie-Tooth disease (CMT), Genetic Heterogeneity, Genetic defects, Neurology, Charcot-Marie-Tooth Disease, Humans, Albuterol, Neurology (clinical), Inherited peripheral neuropathy, Neuromuscular transmission (NMT)

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e856bc789b023a3b7705ca43ba39670dTest
https://doi.org/10.1007/s00415-023-11643-zTest

المؤلفون: O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov, О. А. Щагина, О. П. Рыжкова, А. Л. Чухрова, Т. Б. Миловидова, П. Гундорова, О. Л. Миронович, А. А. Орлова, М. Д. Орлова, А. В. Поляков

المصدر: Neuromuscular Diseases; Том 10, № 4 (2020); 12-26 ; Нервно-мышечные болезни; Том 10, № 4 (2020); 12-26 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-4

مصطلحات موضوعية: наследственная периферическая нейропатия, HMSN, Charcot–Marie–Tooth disease, CMT, whole exome sequencing, WES, inherited peripheral neuropathy, болезнь Шарко–Мари–Тута, полноэкзомное секвенирование

وصف الملف: application/pdf

العلاقة: https://nmb.abvpress.ru/jour/article/view/404/279Test; Barreto L.C.L.S., Oliveira F.S., Nunes P.S. et al. Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review. Neuroepidemiology 2016;46(3):157–65. DOI:10.1159/000443706. PMID: 26849231.; Baets J., Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134(6):1587–90. DOI:10.1093/brain/awr114.; Drew A.P., Zhu D., Kidambi A. et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 2015;3(2):143–54. DOI:10.1002/mgg3.126. PMID: 25802885.; Hartley T., Wagner J.D., WarmanChardon J. et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Clin Genet 2018;93(2):301–9. DOI:10.1111/cge.13101. PMID: 28708278.; Schabhüttl M., Wieland T., Senderek J. et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;(261):970–82. DOI:10.1007/s00415-014-7289-8. PMID: 24627108.; Gonzaga-Jauregui C., Harel T., Gambin T. et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015;12(7):1169–83. DOI:10.1016/j.celrep.2015.07.023. PMID: 26257172.; Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;(17):405–23. DOI:10.1038/gim.2015.30. PMID: 25741868.; Щагина О.А., Дадали Е.Л., Федотов В.П., Поляков А.В. Спектр мутаций в гене MFN2 у больных наследственной моторно-сенсорной нейропатией II А типа. Медицинская генетика 2006;5(9):21–6.; Дадали Е.Л., Щагина О.А., Федотов В.П. Клинико-генетические особенности моторно-сенсорной нейропатии IIА типа. Анналы клинической и экспериментальной неврологии 2007;1(4):10–5.; Миловидова Т.Б., Дадали Е.Л., Федотов В.П. и др. Клинико-генетичекие корреляции при наследственной моторно-сенсорной нейропатии, вызванной мутациями в гене МРZ (P0). Журнал неврологии и психиатрии им. С.С. Корсакова 2011;111(12):48–55.; Latour P., Thauvin-Robinet C., BaudeletMéry C. et al. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-trna synthetase is mutated in dominant axonal charcotmarie-tooth disease. Am J Hum Genet 2010;86(1):77–82. DOI:10.1016/j.ajhg.2009.12.005. PMID: 20045102.; Shchagina O.A., Milovidova T.B., Murtazina A.F. et al. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Mol Biol Rep 2020;(47):1331–7. DOI:10.1007/s11033-019-05238-z.; Дадали Е.Л., Никитин С.С., Курбатов С.А. и др. Клинико-генетические характеристики аутосомно-рецессивной аксональной нейропатии с нейромиотонией у больных из России. Нервно-мышечные болезни 2017;7(3): 47–55. DOI:10.17650/2222-8721-2017-7-3-47-55.; https://nmb.abvpress.ru/jour/article/view/404Test

الإتاحة: https://doi.org/10.17650/2222-8721-2020-10-4-12-26Test
https://doi.org/10.17650/2222-8721-2020-10-4Test
https://doi.org/10.1159/000443706Test
https://doi.org/10.1093/brain/awr114Test
https://doi.org/10.1002/mgg3.126Test
https://doi.org/10.1111/cge.13101Test
https://doi.org/10.1007/s00415-014-7289-8Test
https://doi.org/10.1016/j.celrep.2015.07.023Test
https://doi.org/10.1038/gim.2015.30Test
https://doi.org/10.1016/j.ajhg.2009.12.005Test

المؤلفون: McMacken, Grace, Whittaker, Roger G, Wake, Ruth, Lochmuller, Hanns, Horvath, Rita

مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), Distal hereditary motor neuropathy (dHMN), Genetic defects, Inherited peripheral neuropathy, Neuromuscular junction (NMJ), Neuromuscular transmission (NMT), Humans, Albuterol, Genetic Heterogeneity, Neuromuscular Junction, Myasthenic Syndromes, Congenital, Charcot-Marie-Tooth Disease

وصف الملف: text/xml; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/349898Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/349898Test