نتائج البحث - "Festenstein, Richard"

1

دورية أكاديمية

Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy

المؤلفون: Ricotti, Valeria, Kadirvelu, Balasundaram, Selby, Victoria, Festenstein, Richard, Mercuri, Eugenio, Voit, Thomas, Faisal, A. Aldo

مصطلحات موضوعية: 500 Naturwissenschaften

وصف الملف: application/pdf

العلاقة: https://epub.uni-bayreuth.de/id/eprint/6987/1/s41591-022-02045-1.pdfTest; Ricotti, Valeria; Kadirvelu, Balasundaram; Selby, Victoria; Festenstein, Richard; Mercuri, Eugenio; Voit, Thomas; Faisal, A. Aldo: Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. In: Nature medicine. Bd. 29 (2023) Heft 1 . - S. 95-103. ISSN 1546-170X DOI der Verlagsversion: https://doi.org/10.1038/s41591-022-02045-1Test

الإتاحة: https://doi.org/10.1038/s41591-022-02045-1Test
https://epub.uni-bayreuth.de/id/eprint/6987Test/
https://epub.uni-bayreuth.de/id/eprint/6987/1/s41591-022-02045-1.pdfTest

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2

دورية أكاديمية

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

المؤلفون: Kadirvelu, Balasundaram, Gavriel, Constantinos, Nageshwaran, Sathiji, Chan, Jackson Ping Kei, Nethisinghe, Suran, Athanasopoulos, Stavros, Ricotti, Valeria, Voit, Thomas, Giunti, Paola, Festenstein, Richard, Faisal, A Aldo

المصدر: Nature Medicine , 29 (1) pp. 86-94. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10163790/1/s41591-022-02159-6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10163790/2/41591_2022_2159_MOESM1_ESM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10163790Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10163790/1/s41591-022-02159-6.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10163790/2/41591_2022_2159_MOESM1_ESM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10163790Test/

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3

دورية أكاديمية

Mouse HP1γ regulates TRF1 expression and telomere stability

المؤلفون: Stylianakis, Emmanouil, Chan, Jackson Ping Kei, Law, Pui Pik, Jiang, Yi, Khadayate, Sanjay, Karimi, Mohammad Mahdi, Festenstein, Richard, Vannier, Jean-Baptiste

المصدر: Stylianakis , E , Chan , J P K , Law , P P , Jiang , Y , Khadayate , S , Karimi , M M , Festenstein , R & Vannier , J-B 2023 , ' Mouse HP1γ regulates TRF1 expression and telomere stability ' , Life Sciences , vol. 331 , 122030 . https://doi.org/10.1016/j.lfs.2023.122030Test

مصطلحات موضوعية: Telomere, HP1, Chromatin, DNA damage, Epigenetics, TERRA

الإتاحة: https://doi.org/10.1016/j.lfs.2023.122030Test
https://kclpure.kcl.ac.uk/portal/en/publications/f8d840ac-b141-4591-a17b-ecc492dd5764Test
http://www.scopus.com/inward/record.url?scp=85168714756&partnerID=8YFLogxKTest

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4

دورية أكاديمية

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

المصدر: Movement Disorders ; volume 38, issue 6, page 959-969 ; ISSN 0885-3185 1531-8257

الإتاحة: https://doi.org/10.1002/mds.29277Test

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5

دورية أكاديمية

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

المؤلفون: Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna, McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen

المصدر: The Lancet Neurology ; volume 21, issue 3, page 234-245 ; ISSN 1474-4422

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/s1474-4422Test(21)00462-2
https://api.elsevier.com/content/article/PII:S1474442221004622?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1474442221004622?httpAccept=text/plainTest

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6

رسالة جامعية

Molecular analysis of the human CD2 Locus Control Region in transgenic mice

المؤلفون: Festenstein, Richard

مصطلحات موضوعية: 572.8, Gene regulation, Position Effect Variegation

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321311Test

7

دورية أكاديمية

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

المساهمون: University of Cambridge, Alzheimer's Society, Leverhulme Trust, National Institute for Health Research, Department of Health, Evelyn Trust, Wellcome Trust, Medical Research Council

المصدر: BMJ ; page e066288 ; ISSN 1756-1833

الإتاحة: https://doi.org/10.1136/bmj-2021-066288Test

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