المؤلفون: Nikhita Suzanne Roshan, K. Vimala Christina Colaco, Fathima Raeesa, Safwan Ahmed

المصدر: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: POLG gene, Transverse pontine signal change, Mitochondrial mutation, Epilepsy, Ataxia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1687-8329Test

الوصول الحر: https://doaj.org/article/ca319b5ff268451cadb6bf9ce1110584Test

المؤلفون: P. A. Fedin, E. P. Nuzhnyi, T. Yu. Noskova, Yu. A. Seliverstov, S. A. Klyushnikov, T. D. Krylova, P. G. Tsygankova, E. Yu. Zakharova, S. N. Illarioshkin

المصدر: Эпилепсия и пароксизмальные состояния, Vol 12, Iss 4, Pp 205-215 (2021)

مصطلحات موضوعية: mitochondrial disorders, polg gene, sando syndrome, memsa syndrome, electroencephalography, epilepsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.epilepsia.su/jour/article/view/622Test; https://doaj.org/toc/2077-8333Test; https://doaj.org/toc/2311-4088Test

الوصول الحر: https://doaj.org/article/4301f83c628f4f6d94de784af98ba08fTest

المؤلفون: Yevgeny P. Nuzhniy, Sergey A. Klyushnikov, Yury A. Seliverstov, Tatiana D. Krylova, Polina G. Tsygankova, Yekaterina Yu. Zakharova, Dmitriy S. Kasatkin, Nikolai N. Spirin, Natalia Yu. Abramycheva, Sergey N. Illarioshkin

المصدر: Анналы клинической и экспериментальной неврологии, Vol 13, Iss 2, Pp 5-13 (2019)

مصطلحات موضوعية: mitochondrial ataxias, sando syndrome, polg gene, clinical picture, ataxia, genetic testing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/586/469Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test

الوصول الحر: https://doaj.org/article/6b2cc442ff34490281fa85b7e0878362Test

المؤلفون: Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk

المصدر: Genes; Volume 12; Issue 1; Pages: 54

مصطلحات موضوعية: mitochondrial disorders, progressive external ophthalmoplegia, POLG gene, TWNK gene, RNASEH1 gene, mitochondrial DNA deletions, multiple mitochondrial DNA deletions, muscle biopsy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12010054Test

الإتاحة: https://doi.org/10.3390/genes12010054Test

المؤلفون: O. S. Shilkina, N. A. Shnayder, I. P. Artyukhov, P. V. Moskaleva, Yu. S. Panina, О. С. Шилкина, Н. А. Шнайдер, И. П. Артюхов, П. В. Москалева, Ю. С. Панина

المصدر: Russian Journal of Child Neurology; Том 13, № 1 (2018); 57-63 ; Русский журнал детской неврологии; Том 13, № 1 (2018); 57-63 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2018-13-1

مصطلحات موضوعية: терапия, POLG gene, juvenile myoclonic epilepsy, differential diagnosis, therapy, ген POLG, юношеская миоклоническая эпилепсия, дифференциальная диагностика

وصف الملف: application/pdf

العلاقة: https://rjdn.abvpress.ru/jour/article/view/249/179Test; Мухин К.Ю., Петрухин А.С. Идиопатические формы эпилепсии: систематика, диагностика, терапия. М.: Арт-Бизнес- Центр, 2000. 319 с. [Mukhin K.Yu., Petrukhin A.S. Idiopathic forms of epilepsy: systematics, diagnostics, and therapy. Moscow: Art-Bizness-Tsenter, 2000. 319 p. (In Russ.)].; Насырова Р.Ф., Сивакова Н.А., Липатова Л.В. и др. Биологические маркеры эффективности и безопасности противоэпилептических препаратов: фармакогенетика и фармакокинетика. Сибирское медицинское обозрение 2017;(103):17–25. [Nasyrova R.F., Sivakova N.A., Lipatova L.V. et al. Biological markers for evaluating efficacy and safety of antiepileptic drugs: pharmacogenetics and pharmacokinetics. Sibirskoe meditsinskoe obozrenie = Siberian Medical Review 2017;(103):17–25. (In Russ.)].; Сухоруков В.С. Очерки митохондриальной патологии. М.: Медпрактика-М, 2011. 288 с. [Sukhorukov V.S. Some aspects of mitochondrial pathology. Moscow: Medpraktika-M, 2011. 288 p. (In Russ.)].; Ahmed N., Ronchi D., Comi G.P. Genes and pathways involved in adult onset disorders featuring muscle mitochondrial DNA instability. Int J Mol Sci 2015;16(8): 18054–76. DOI:10.3390/ijms160818054. PMID: 26251896.; Bicknese A.R., May W., Hickey W.F. et al. Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity. Ann Neurol 1992;32(6):767–75. DOI:10.1002/ana.410320610. PMID: 1471867.; Cohen B.H., Naviaux R.K. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods 2010;51(4):364–73. DOI:10.1016/j.ymeth.2010.05.008. PMID: 20558295.; Engelsen B.A., Tzoulis C., Karlsen B. et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008;131(Pt 1):818–28. DOI:10.1093/ brain/awn007. PMID: 18238797.; Fadic R., Russell J.A., Vedanarayanan V.V. et al. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 1997;49(1):239–45. PMID: 9222196.; GeneCards®: The Human Gene Database. Available at: https://www.genecards.orgTest.; Hudson G., Chinnery P.F. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 2006;15 Spec No. 2: R244–52. DOI:10.1093/hmg/ddl233. PMID: 16987890.; Kollberg G., Moslemi A.R., Darin N. et al. POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 2006;65(8):758–68. DOI:10.1097/01.jnen.0000229987.17548.6e. PMID: 16896309.; Milone M., Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist 2010;16(2):84–91. DOI:10.1097/ NRL.0b013e3181c78a89. PMID: 20220442.; Online Mendelian Inheritance in Man® – an online catalog of human genes and genetic disorders. Available at: http://omim.orgTest.; Ryan M.T., Hoogenraad N.J. Mitochondrial-nuclear communications. Annu Rev Biochem 2007;(76):701–22. DOI:10.1146/annurev.biochem.76.052305.091720. PMID: 17227225.; Sarnat H.B., Menkes J.H. Mitochondrial encephalomyopathies. Ch. 2. In: Child Neurology. Eds.: J.H. Menkes, H.B. Sarnat, B.L. Maria. 7th edn. Philadelphia– Baltimore: Lippincott Williams & Wilkins. 2006. Pp.143–161.; Tzoulis C., Engelsen B.A., Telstad W. et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006;129(Pt 7):1685–92. DOI:10.1093/brain/awl097. PMID: 16638794.; Vries M.C., Rodenburg R.J., Morava E. et al. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr 2007;166(3):229–34. DOI:10.1007/s00431-006-0234-9. PMID: 16957900.; Winterthun S., Ferrari G., He L. et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations. Neurology 2005;64(7):1204–8. DOI:10.1212/01. WNL.0000156516.77696.5A. PMID: 15824347.; https://rjdn.abvpress.ru/jour/article/view/249Test

الإتاحة: https://doi.org/10.17650/2073-8803-2018-13-1-57-6310.17650/2073-8803-2018-13-110.3390/ijms16081805410.1002/ana.41032061010.1016/j.ymeth.2010.05.00810.1093/hmg/ddl23310.1097/01.jnen.0000229987.17548.6e10.1146/annurev.biochem.76.052305.09172010.1093/brain/awl09710.1007/s00431-006-0234-910.1212/01Test
https://rjdn.abvpress.ru/jour/article/view/249Test

المؤلفون: Polina G. Tsygankova, P. A. Fedin, Sergei N. Illarioshkin, T. Yu. Noskova, Tatiana D. Krylova, E. Yu. Zakharova, S. A. Klyushnikov, Yu. A. Seliverstov, E. P. Nuzhnyi

المصدر: Эпилепсия и пароксизмальные состояния, Vol 12, Iss 4, Pp 205-215 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, sando syndrome, Audiology, Electroencephalography, Photostimulation, Ophthalmoparesis, polg gene, memsa syndrome, 03 medical and health sciences, Dysarthria, Epilepsy, 0302 clinical medicine, mitochondrial disorders, Hyperventilation, medicine, RC346-429, Depression (differential diagnoses), medicine.diagnostic_test, business.industry, medicine.disease, Burst suppression, 030104 developmental biology, Neurology, epilepsy, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business, 030217 neurology & neurosurgery, electroencephalography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba01e6e98435001bddd0de148243a2bTest
https://www.epilepsia.su/jour/article/view/622Test

المؤلفون: Plaseski T, Noveski P, Dimitrovski C, Efremov G, Plaseska-Karanfilska D

المصدر: Balkan Journal of Medical Genetics, Vol 10, Iss 2, Pp 37-42 (2007)

مصطلحات موضوعية: male infertility, mitochondrial dna polymerase gamma (polg) gene, cag repeat, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1311-0160Test

الوصول الحر: https://doaj.org/article/6411e21e3dbf4b2e81af6d0c59544746Test

المؤلفون: KHATAMI, Mehri, HEIDARI, Mohammad Mehdi, MANSOURI, Reza, MOUSAVI, Fatemeh

المصدر: Iranian Journal of Child Neurology; Vol. 9 No. 1 (2015): winter; 37-41 ; 2008-0700 ; 1735-4668

مصطلحات موضوعية: Multiple sclerosis, POLG gene, CAG repeats, Trinucleotide expansion

وصف الملف: application/pdf

العلاقة: https://journals.sbmu.ac.ir/ijcn/article/view/5816/6433Test; https://journals.sbmu.ac.ir/ijcn/article/view/5816Test

الإتاحة: https://doi.org/10.22037/ijcn.v9i1.5816Test
https://journals.sbmu.ac.ir/ijcn/article/view/5816Test

المؤلفون: A.A. Miroshnikov, L.G. Kirilova, Y.G. Antipkin, A.A. Yuzva

المصدر: Perinatologiâ i Pediatriâ, Iss 2(78), Pp 58-66 (2019)

مصطلحات موضوعية: Genetics, mitochondrial diseases, molecular genetic diagnosis, business.industry, POLG gene mutation, mitochondrial neurogastrointestinal encephalopathy, lcsh:RJ1-570, Medicine, lcsh:Pediatrics, Differential diagnosis, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::262ea6d9d18eb0e69ad6a00f5b725d10Test
https://med-expert.com.ua/en/mitochondrial-diseases-caused-mutationsTest-polg-gene-problems-differential-diagnosis/

المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska

المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test