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1Academic Journal
Συγγραφείς: G. E. Rudenskaya, S. S. Nikitin, O. L. Shatokhina, O. A. Shchagina, Г. Е. Руденская, С. С. Никитин, О. Л. Шатохина, О. А. Щагина
Συνεισφορές: The research was carried out within the state assignment of Ministry of Science and Higher Education of Russia for Research Centre for Medical Genetics with usage of RCMG “Genome” NGS Core Unit., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» с применением оборудования Центра коллективного пользования «Геном» ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова».
Πηγή: Neuromuscular Diseases; Том 12, № 3 (2022); 52-58 ; Нервно-мышечные болезни; Том 12, № 3 (2022); 52-58 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2022-12-3
Θεματικοί όροι: клиническое разнообразие, SETX gene, whole‑exome sequencing, novel mutation, electroneuromyography, clinical variability, ген SETX, полноэкзомное секвенирование, новая мутация, электронейромиография
Περιγραφή αρχείου: application/pdf
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Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. Brain 2022;awab464. DOI:10.1093/brain/awab464; HGMD (The Human Gene Mutation Database). Available at: https://portal.biobaseinternational.com/.; Руденская Г.Е., Куркина М.В., Захарова Е.Ю. Атаксии с окуломоторной апраксией: клинико-генетические характеристики и ДНК-диагностика. Журнал неврологии и психиатрии им. С.С. Корсакова 2012;112(10):58–63.; Avemaria F., Lunetta C., Tarlarini C. et al. Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. Amyotroph Lateral Scler 2011;12(3):228–30. DOI:10.3109/17482968.2011.566930; Rudnik-Schöneborn S., Arning L., Epplen J.T., Zerres K. SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord 2012;22(3):258–62. DOI:10.1016/j.nmd.2011.09.00; Taniguchi T., Hokezu Y., Okada T. et al. Amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia: a case report. Rinsho Shinkeigaku 2017;57(11):685–90. DOI:10.5692/clinicalneurol.cn-000996; Ma L., Shi Y., Chen Z. et al. A novel SETX gene mutation associated with juvenile amyotrophic lateral sclerosis. Brain Behav 2018;8:e01066. DOI:10.1002/brb3.1066; Lei L., Chen H., Lu Y. et al. Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up. J Neurol 2021;268(3):1050–8. DOI:10.1007/s00415-020-10246-2; Kitao R., Honma Y., Hashiguchi A. et al. A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene. Rinsho Shinkeigaku 2020;60(7):466–72. DOI:10.5692/clinicalneurol.60.cn-001415; Hadjinicolaou A., Ngo K.J., Conway D.Y. et al. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun 2021;9(1):194. DOI:10.1186/s40478-021-01277-5; Hirano M., Quinzii C., Mitsumoto H. et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12(3):223–7. DOI:10.3109/17482968.2010.545952; Saiga T., Tateishi T., Torii T. et al. Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation. J Neurol Neurosurg Psychiatry 2012;83(7):763, 764. DOI:10.1136/jnnp-2012-302281; Tripolszki K., Török D., Goudenège D. et al. High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. Brain Behav 2017;7(4):e00669. DOI:10.1002/brb3.669; Beppu S., Ikenaka K., Yabumoto T. et al. A case of sporadic amyotrophic lateral sclerosis (ALS) with senataxin (SETX) gene variant. Rinsho Shinkeigaku 2022;62(3):205–10. DOI:10.5692/clinicalneurol.cn-001675; Grunseich C., Patankar A., Amaya J. et al. Clinical and molecular aspects of senataxin mutations in amyotrophic lateral sclerosis 4. 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2Academic Journal
Συγγραφείς: Руденская, Галина, Захарова, Екатерина
Θεματικοί όροι: БОЛЕЗНЬ АЛЕКСАНДЕРА,ГЕН GFAP,ДНК-ДИАГНОСТИКА,ПОЗДНЯЯ ФОРМА,КЛИНИЧЕСКОЕ РАЗНООБРАЗИЕ,МАГНИТНО-РЕЗОНАНСНАЯ ТОМОГРАФИЯ
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3Academic Journal
Πηγή: Нервные болезни.
Θεματικοί όροι: БОЛЕЗНЬ АЛЕКСАНДЕРА,ГЕН GFAP,ДНК-ДИАГНОСТИКА,ПОЗДНЯЯ ФОРМА,КЛИНИЧЕСКОЕ РАЗНООБРАЗИЕ,МАГНИТНО-РЕЗОНАНСНАЯ ТОМОГРАФИЯ
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