المؤلفون: Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: SMRT sequencing, NOP56 gene, GGCCTG, spinocerebellar ataxia, repeat interruptions, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1110307/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/3b92f12664a347ac8f98bdc2eafbab72Test

المؤلفون: Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond, L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank, J, Depienne, Christel, Pearson, Christopher, E, Westenberger, Ana, Klein, Christine

المساهمون: Universität zu Lübeck = University of Lübeck Lübeck, University of the Philippines (UP System), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: repeat interruptions, mosaic, genetic modifiers, single-molecule sequencing, X-linked dystonia parkinsonism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35481544; hal-04480112; https://hal.science/hal-04480112Test; https://hal.science/hal-04480112/documentTest; https://hal.science/hal-04480112/file/awac160.pdfTest; PUBMED: 35481544; PUBMEDCENTRAL: PMC9976955

الإتاحة: https://doi.org/10.1093/brain/awac160Test
https://hal.science/hal-04480112Test
https://hal.science/hal-04480112/documentTest
https://hal.science/hal-04480112/file/awac160.pdfTest

المؤلفون: Stojan Peric, Jovan Pesovic, Dusanka Savic-Pavicevic, Vidosava Rakocevic Stojanovic, Giovanni Meola

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 354

مصطلحات موضوعية: myotonic dystrophy type 1, DMPK gene, repeat expansions, variant repeats, repeat interruptions, genetic modifier, phenotype variability, age at onset, somatic mosaicism

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23010354Test

الإتاحة: https://doi.org/10.3390/ijms23010354Test

المؤلفون: Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: Friedreich ataxia, FRDA, frataxin, GAA repeat mutation, GAA repeat interruptions, trinucleotide repeat expansion disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fncel.2018.00443/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/16446b7e2f3840069890344f2540efe4Test

المؤلفون: Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: age at onset, CTG expansion, DMPK, myotonic dystrophy 1, repeat interruptions, somatic instability, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2018.00601/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/4dc06f157d514847a45afe769d71c597Test

المؤلفون: Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, SMRT sequencing, NOP56 gene, GGCCTG, spinocerebellar ataxia, repeat interruptions

العلاقة: https://figshare.com/articles/figure/Image1_A_Chinese_SCA36_pedigree_analysis_of_NOP56_expansion_region_based_on_long-read_sequencing_TIF/22338667Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1110307.s002Test
https://figshare.com/articles/figure/Image1_A_Chinese_SCA36_pedigree_analysis_of_NOP56_expansion_region_based_on_long-read_sequencing_TIF/22338667Test

المؤلفون: Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, SMRT sequencing, NOP56 gene, GGCCTG, spinocerebellar ataxia, repeat interruptions

العلاقة: https://figshare.com/articles/dataset/DataSheet1_A_Chinese_SCA36_pedigree_analysis_of_NOP56_expansion_region_based_on_long-read_sequencing_docx/22338664Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1110307.s001Test
https://figshare.com/articles/dataset/DataSheet1_A_Chinese_SCA36_pedigree_analysis_of_NOP56_expansion_region_based_on_long-read_sequencing_docx/22338664Test

المؤلفون: Wiethoff, S, O'Connor, E, Haridy, NA, Nethisinghe, S, Wood, N, Giunti, P, Bettencourt, C, Houlden, H

المصدر: J Neurol Neurosurg Psychiatry , 89 (11) pp. 1226-1227. (2018)

مصطلحات موضوعية: Spinocerebellar ataxia type 6, disease modifying factors, polyglutamine diseases, repeat interruptions, trinucleotide repeat expansions

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10042636/8/Bettencourt%20VoR1226.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042636Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10042636/8/Bettencourt%20VoR1226.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10042636Test/

المؤلفون: Perić, Stojan, Pešović, Jovan, Rakočević Stojanović, Vidosava, Savić-Pavićević, Dušanka, Meola, Giovanni

مصطلحات موضوعية: Myotonic dystrophy type 1, DMPK gene, Repeat expansions, Variant repeats, Repeat interruptions, Genetic modifier, Phenotype variability, Age at onset, Somatic mosaicism

العلاقة: International Journal of Molecular Sciences; Peric, Stojan, Jovan Pesovic, Dusanka Savic-Pavicevic, Vidosava Rakocevic Stojanovic, and Giovanni Meola. 2022. "Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1" International Journal of Molecular Sciences 23, no. 1: 354. https://doi.org/10.3390/ijms23010354Test; https://biore.bio.bg.ac.rs/handle/123456789/5130Test; www.mdpi.com/1422-0067/23/1/354/htm

الإتاحة: https://doi.org/10.3390/ijms23010354Test
https://biore.bio.bg.ac.rs/handle/123456789/5130Test

المؤلفون: Pešović, Jovan, Perić, Stojan, Brkušanin, Miloš, Brajušković, Goran, Rakočević-Stojanović, Vidosava, Savić Pavićević, Dušanka

مصطلحات موضوعية: CTG expansion, DMPK, age at onset, myotonic dystrophy 1, repeat interruptions, somatic instability

العلاقة: Frontiers in genetics; https://biore.bio.bg.ac.rs/handle/123456789/24Test

الإتاحة: https://doi.org/10.3389/fgene.2018.00601Test
https://biore.bio.bg.ac.rs/handle/123456789/24Test