المؤلفون: Yuzhi Shi, An Wang, Bin Chen, Xingao Wang, Songtao Niu, Wei Li, Shaowu Li, Zaiqiang Zhang

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: hereditary spastic paraplegia, spinocerebellar ataxia, next generation sequencing, dynamic mutation, triplet repeat primed PCR, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.872927/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/efe05468c013471aab453dc4c35ebd33

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المؤلفون: Muthuswamy, Srinivasan^Aff6, Dean, Deepika D^Aff6, Agarwal, Sarita^Aff6

المساهمون: Kumar, Amit, Series editor^Aff1, Appa Rao, Allam, Series editor^Aff2, Avadhanam, Sharada, editor^Aff3, Jyothsna, G., editor^Aff4, Kashyap, Amita, editor^Aff5

المصدر: Next Generation DNA Led Technologies. :91-96

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المؤلفون: Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 14, p 7507 (2021)

مصطلحات موضوعية: Friedreich’s ataxia, FRDA, ataxia, GAA repeat interruption, triplet repeat primed PCR, TP PCR, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/14/7507; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/19917918fd22477d8a31b6f07fe8f781

المؤلفون: Moon Woo Seong, Hyunjung Gu, Ji Yun Song, Man Jin Kim, Sung Im Cho, Sung Sup Park, Dahae Yang

المصدر: Annals of Laboratory Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Fragment analysis, Concordance, Clinical Biochemistry, 030105 genetics & heredity, Biology, Polymerase Chain Reaction, Repeat number, Correlation, Fragile X Mental Retardation Protein, 03 medical and health sciences, Trinucleotide Repeats, medicine, Humans, Allele, Alleles, Southern blot, Genetics, Allele categorization, CGG expansion, Southern blotting, Triplet repeat, Biochemistry (medical), Zygosity, General Medicine, medicine.disease, Fragile X syndrome, Blotting, Southern, 030104 developmental biology, Fragile X Syndrome, Mutation, Medical genetics, Female, Original Article, Diagnostic Genetics, Triplet repeat primed PCR

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e445a059d08c495876354beb7bf7d769
https://doi.org/10.3343/alm.2021.41.4.394

المؤلفون: Mona ENTEZA­M, Akbar AMIRFIROOZI, Mansoureh TOGHA, Mohammad KERAMATIPOUR

المصدر: Iranian Journal of Public Health, Vol 46, Iss 2 (2017)

مصطلحات موضوعية: Triplet repeat primed-PCR, Long-PCR, GAA trinucleotide repeat, Friedreich’s ataxia, Frataxin (FXN) gene, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://ijph.tums.ac.ir/index.php/ijph/article/view/9052; https://doaj.org/toc/2251-6085; https://doaj.org/toc/2251-6093

URL الوصول: https://doaj.org/article/e008cec43cfa4f2db5204873739f2b3a

المؤلفون: Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández‐Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets

المصدر: Eur J Neurol
European journal of neurology
European journal of neurology 29(7), 2156-2161 (2022). doi:10.1111/ene.15310

مصطلحات موضوعية: genetics [Hereditary Sensory and Autonomic Neuropathies], RFC1 repeat-primed PCR, genetics [Cerebellar Ataxia], Cerebellar Ataxia, autonomic dysfunction, Bilateral Vestibulopathy, afferent ataxia, Peripheral Nervous System Diseases, diagnosis [Cerebellar Ataxia], Neurology, Cough, Vestibular Diseases, chronic cough, Humans, next-generation sequencing, Ataxia, Neurology (clinical), ddc:610, complications [Peripheral Nervous System Diseases], Human medicine, genetics [Cough], Hereditary Sensory and Autonomic Neuropathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877058a0565f786250ef642f19fcc42c
https://pubmed.ncbi.nlm.nih.gov/35253317

المؤلفون: Saiful Islam, Paola Giunti, Suran Nethisinghe, Hector Garcia-Moreno, Francesca Cavalcanti, Mark A. Pook, Robyn Labrum, James M Polke, Heather Ging, Martina F. Callaghan, Maheswaran Kesavan

المصدر: International journal of molecular sciences
22 (2021). doi:10.3390/ijms22147507
info:cnr-pdr/source/autori:Suran Nethisinghe; Maheswaran Kesavan; Heather Ging; Robyn Labrum; James M. Polke; Saiful Islam; Hector Garcia-Moreno; Martina F. Callaghan; Francesca Cavalcanti; Mark A. Pook; Paola Giunti/titolo:Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner/doi:10.3390%2Fijms22147507/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:22
International Journal of Molecular Sciences, Vol 22, Iss 7507, p 7507 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 14

مصطلحات موضوعية: 0301 basic medicine, TP PCR, Ataxia, triplet repeat primed PCR, Dependent manner, QH301-705.5, Friedreich’s ataxia, Neurological disorder, Bioinformatics, FXN, Catalysis, Inorganic Chemistry, 03 medical and health sciences, 0302 clinical medicine, medicine, Gene silencing, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, FRDA, frataxin, biology, business.industry, Frataxin, Triplet repeat, ataxia, Organic Chemistry, Intron, Friedreich's ataxia, General Medicine, medicine.disease, Computer Science Applications, Chemistry, 030104 developmental biology, biology.protein, medicine.symptom, Trinucleotide repeat expansion, business, Triplet repeat primed PCR, 030217 neurology & neurosurgery, GAA repeat interruption

وصف الملف: Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f53abec1d7f25fe1274229e17e3699

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