المؤلفون: Campbell, Amy E, Arjomand, Jamshid, King, Oliver D, Tawil, Rabi, Jagannathan, Sujatha

المساهمون: Neurology

المصدر: Journal of neuromuscular diseases ; 10 ; 6 ; 1031 ; 1040 ; United States ; Netherlands

مصطلحات موضوعية: DUX4, FSHD, biomarkers, facioscapulohumeral muscular dystrophy, proteomics

العلاقة: Journal of Neuromuscular Diseases; https://doi.org/10.3233/jnd-221636Test; Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S. A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. J Neuromuscul Dis. 2023;10(6):1031-1040. doi:10.3233/JND-221636. PMID: 37899061; PMCID: PMC10657687.; http://hdl.handle.net/20.500.14038/52816Test

الإتاحة: https://doi.org/10.3233/JND-221636Test
https://doi.org/20.500.14038/52816Test
https://doi.org/10.3233/jnd-221636Test
https://hdl.handle.net/20.500.14038/52816Test

المؤلفون: Bettio, Cinzia, Salsi, Valentina, Orsini, Mirko, Calanchi, Enrico, Magnotta, Luca, Gagliardelli, Luca, Kinoshita, June, Bergamaschi, Sonia, Tupler, Rossella

المساهمون: Molecular, Cell and Cancer Biology

المصدر: Orphanet journal of rare diseases ; 16 ; 1 ; 470 ; England

مصطلحات موضوعية: Data collection, Data integration, FSHD, Rare disease registry, Rare diseases

العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-021-02100-zTest; Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. Orphanet J Rare Dis. 2021 Nov 4;16(1):470. doi:10.1186/s13023-021-02100-z. PMID: 34736505; PMCID: PMC8567605.; http://hdl.handle.net/20.500.14038/51882Test

الإتاحة: https://doi.org/10.1186/s13023-021-02100-zTest
https://doi.org/20.500.14038/51882Test
https://hdl.handle.net/20.500.14038/51882Test

المؤلفون: Maceroni, Martina, Monforte, Mauro, Falsini, Benedetto, Rizzo, Stanislao, Savastano, Maria Cristina, Ricci, Enzo, Tasca, Giorgio, Minnella, Angelo Maria

المساهمون: Maceroni, Martina, Monforte, Mauro, Cariola, Rossella, Falsini, Benedetto, Rizzo, Stanislao, Savastano, Maria Cristina, Martelli, Francesco, Ricci, Enzo, Bortolani, Sara, Tasca, Giorgio, Minnella, Angelo Maria

مصطلحات موضوعية: deep capillary plexus (DCP), facioscapulohumeral muscular dystrophy (FSHD), foveal avascular zone (FAZ), optical coherence tomography-angiography (OCT-A), retinal vasculopathy, superficial capillary plexus (SCP), tortuosity index (TI), vessel density (VD), Settore MED/30 - MALATTIE APPARATO VISIVO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36900126; info:eu-repo/semantics/altIdentifier/wos/WOS:000946979100001; volume:13; issue:5; firstpage:982; lastpage:N/A; issueyear:2023; journal:DIAGNOSTICS; https://hdl.handle.net/10807/233570Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149775396

الإتاحة: https://doi.org/10.3390/diagnostics13050982Test
https://hdl.handle.net/10807/233570Test

المؤلفون: Lemmers, Richard JLF, Butterfield, Russell, van der Vliet, Patrick J, de Bleecker, Jan L, van der Pol, Ludo, Dunn, Diane M, Erasmus, Corrie E, D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, van der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, van den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C, Vissing, John, Weiss, Robert B, van der Maarel, Silvère M

المصدر: Brain awad312. (2023)

مصطلحات موضوعية: D4Z4, DUX4, FSHD, duplications, facioscapulohumeral muscular dystrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185895/1/awad312.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185895Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10185895/1/awad312.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10185895Test/

المؤلفون: Efthymiou, Stephanie, Lemmers, Richard JLF, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico

المصدر: Biomolecules , 13 (11) , Article 1567. (2023)

مصطلحات موضوعية: FSHD, D4Z4 contraction, optical genome mapping, Bionano Genomics

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181347/1/biomolecules-13-01567.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181347Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181347/1/biomolecules-13-01567.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181347Test/

المؤلفون: Kelly Murphy, Aiping Zhang, Adam J. Bittel, Yi-Wen Chen

المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1040

مصطلحات موضوعية: facioscapulohumeral, muscular, dystrophy, FSHD, FLExDUX4, DUX4, muscle, TDP-43

وصف الملف: application/pdf

العلاقة: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm13071040Test

الإتاحة: https://doi.org/10.3390/jpm13071040Test

المؤلفون: Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella

المصدر: Diagnostics; Volume 13; Issue 5; Pages: 982

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy (FSHD), retinal vasculopathy, optical coherence tomography-angiography (OCT-A), tortuosity index (TI), vessel density (VD), foveal avascular zone (FAZ), superficial capillary plexus (SCP), deep capillary plexus (DCP)

وصف الملف: application/pdf

العلاقة: Machine Learning and Artificial Intelligence in Diagnostics; https://dx.doi.org/10.3390/diagnostics13050982Test

الإتاحة: https://doi.org/10.3390/diagnostics13050982Test

المؤلفون: Nneoma S. Wamkpah, John J. Chi

المصدر: Otolaryngology Case Reports, Vol 25, Iss , Pp 100468- (2022)

مصطلحات موضوعية: Facial palsy, Facial weakness, Facioscapulohumeal muscular dystrophy, FSHD, Shoulder weakness, Winged scapula, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468548822000777Test; https://doaj.org/toc/2468-5488Test

الوصول الحر: https://doaj.org/article/589693481a30435fa1457066376fd1a5Test

المؤلفون: Virginie Mariot, Romain Joubert, Laura Le Gall, Eva Sidlauskaite, Christophe Hourde, William Duddy, Thomas Voit, Maximilien Bencze, Julie Dumonceaux

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 12, Iss 6, Pp 2079-2090 (2021)

مصطلحات موضوعية: FSHD, DUX4, Necroptosis, Ripk3, Facioscapulohumeral dystrophy, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

الوصول الحر: https://doaj.org/article/28d75bc156bf4a87a01d22b7bad629e6Test

المؤلفون: Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Rare disease registry, Data collection, Data integration, FSHD, Rare diseases, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f2cc7c6cc1104d04a0dd2afdd0dacf6eTest