المؤلفون: Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: fukutin-related protein, muscular dystrophy, protein misfolding, missense mutation, chaperone, structural modelling, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1279700/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/35da4e2141714c0fa0e8671065cea821Test

المؤلفون: Esapa, Christopher T., McIlhinney, R. A. Jeffrey, Waite, Adrian J., Benson, Matthew A., Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C., Lochmüller, Hanns, Rizkallah, Pierre J., Lu, Qi L., Blake, Derek J.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/164552/3/fmolb-10-1279700.pdfTest; Esapa, Christopher T., McIlhinney, R. A. Jeffrey, Waite, Adrian J., Benson, Matthew A., Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C., Lochmüller, Hanns, Rizkallah, Pierre J., Lu, Qi L. and Blake, Derek J. https://orca.cardiff.ac.uk/view/cardiffauthors/A109593L.htmlTest orcid:0000-0002-5005-4731 orcid:0000-0002-5005-4731 2023. Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies. Frontiers in Molecular Biosciences 10 10.3389/fmolb.2023.1279700 https://doi.org/10.3389/fmolb.2023.1279700Test file https://orca.cardiff.ac.uk/id/eprint/164552/3/fmolb-10-1279700.pdfTest

الإتاحة: https://doi.org/10.3389/fmolb.2023.1279700Test
https://orca.cardiff.ac.uk/id/eprint/164552Test/
https://orca.cardiff.ac.uk/id/eprint/164552/3/fmolb-10-1279700.pdfTest

المؤلفون: Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agnes, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra

المساهمون: Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agne, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra

مصطلحات موضوعية: DMD gene mutation, Duchenne muscular dystrophies (DMD), Becker muscular dystrophies (BMD), Whole-exome sequencing (WES), Gene modifiers haplotypes

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33376799; info:eu-repo/semantics/altIdentifier/wos/WOS:000656645800017; volume:7; issue:1; firstpage:e536-1; lastpage:e536-12; numberofpages:12; journal:NEUROLOGY. GENETICS; info:eu-repo/grantAgreement/EC/H2020/779257; http://hdl.handle.net/11392/2433931Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117093147; https://ng.neurology.org/content/nng/7/1/e536.full-text.pdfTest; https://ng.neurology.org/content/7/1/e536Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000536Test
http://hdl.handle.net/11392/2433931Test
https://ng.neurology.org/content/nng/7/1/e536.full-text.pdfTest
https://ng.neurology.org/content/7/1/e536Test

المؤلفون: McCormack, P, Woods, S, Aartsma-Rus, A, Hagger, L, Herczegfalvi, A, Heslop, E, Irwin, J, Kirschner, J, Moeschen, P, Muntoni, F, Ouillade, MC, Rahbek, J, Rehmann-Sutter, C, Rouault, F, Sejersen, T, Vroom, E, Straub, V, Bushby, K, Ferlini, A

المصدر: PLoS currents. 5

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:223330068Test

المؤلفون: Aniko Gal, Zoltán Grosz, Beata Borsos, Ildikó Szatmari, Agnes Sebők, Laszló Jávor, Veronika Harmath, Katalin Szakszon, Livia Dezsi, Eniko Balku, Zita Jobbagy, Agnes Herczegfalvi, Zsuzsanna Almássy, Levente Kerényi, Maria Judit Molnar

المصدر: Life; Volume 11; Issue 6; Pages: 507

مصطلحات موضوعية: Pompe disease, GAA genotype, GAA enzyme activity

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Proteins and Proteomics; https://dx.doi.org/10.3390/life11060507Test

الإتاحة: https://doi.org/10.3390/life11060507Test

المؤلفون: Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn

المساهمون: Deutsche Forschungsgemeinschaft, Medical Research Council Canada, Canada Foundation for Innovation, Canadian Institutes of Health Research, National Human Genome Research Institute

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 4, page 972-986 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12341Test

المؤلفون: Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn

مصطلحات موضوعية: ATP6V1A, autosomal recessive cutis laxa, Golgi apparatus, hypotonia, progeroid features, v-ATPase, ddc:610

وصف الملف: application/pdf

العلاقة: https://refubium.fu-berlin.de/handle/fub188/34193Test; http://dx.doi.org/10.17169/refubium-33911Test

الإتاحة: https://doi.org/10.17169/refubium-33911Test
https://doi.org/10.1002/jimd.12341Test
https://refubium.fu-berlin.de/handle/fub188/34193Test

المؤلفون: Szabó, Léna, Gergely, Anita, Jakus, Rita, Fogarasi, András, Grosz, Zoltán, Molnár, Mária Judit, Andor, Ildikó, Schulcz, Orsolya, Goschler, Ádám, Medveczky, Erika, Czövek, Dorottya, Herczegfalvi, Ágnes

المساهمون: Hungarian Academy of Sciences, Ministry of Human Capabilities

المصدر: European Journal of Paediatric Neurology ; volume 27, page 37-42 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2020.05.002Test
https://api.elsevier.com/content/article/PII:S1090379820300994?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379820300994?httpAccept=text/plainTest

المؤلفون: Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo A, Bertini E, Born P, Cances C, Chabrol B, Chae JH, Colomer Oferil J, Comi GP, Cuisset JM, D'Anjou G, Desguerre I, Erazo Torricelli R, Escobar R, Feder D, Ferlini A, Giugliani R, Henricson E, Herczegfalvi A, Jong YJ, Kimura S, Kirschner JB, Kleinsteuber K, Kostera-Pruszczyk A, Kudr M, Mueller-Felber W, Niks EH, Ogata K, Palermo C, Pane M, Pascual I, Pereon Y, Raskin S, Rasmussen M, Reed U, Schara U, Selby K, Sobreira C, Takeshima Y, Vilchez Padilla JJ, Vita G, Vondracek P, Wiegand G, Wilichowski E.

المساهمون: Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Gile, Wang, Susanne X., Campbell, Craig, Araujo, A, Bertini, E, Born, P, Cances, C, Chabrol, B, Chae, JH, Colomer Oferil, J, Comi, GP, Cuisset, JM, D'Anjou, G, Desguerre, I, Erazo Torricelli, R, Escobar, R, Feder, D, Ferlini, A, Giugliani, R, Henricson, E, Herczegfalvi, A, Jong, YJ, Kimura, S, Kirschner, JB, Kleinsteuber, K, Kostera-Pruszczyk, A, Kudr, M, Mueller-Felber, W, Niks, EH, Ogata, K, Palermo, C, Pane, M, Pascual, I, Pereon, Y, Raskin, S, Rasmussen, M, Reed, U, Schara, U, Selby, K, Sobreira, C, Takeshima, Y, Vilchez Padilla, JJ, Vita, G, Vondracek, P, Wiegand, G, Wilichowski, E.

مصطلحات موضوعية: 6-minute walking distance, antisense oligonucleotide, drisapersen, Duchenne muscular dystrophy, dystrophin, exon skipping, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29203355; info:eu-repo/semantics/altIdentifier/wos/WOS:000427210600002; volume:28; issue:1; firstpage:4; lastpage:15; numberofpages:12; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11570/3166569Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85035316347; https://www.nmd-journal.com/article/S0960-8966Test(17)30200-6/fulltext

الإتاحة: https://doi.org/10.1016/j.nmd.2017.10.004Test
http://hdl.handle.net/11570/3166569Test
https://www.nmd-journal.com/article/S0960-8966Test(17)30200-6/fulltext

المؤلفون: Esapa, Christopher T, McIlhinney, RA Jeffrey, Waite, Adrian J, Benson, Matthew A, Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C, Lochmüller, Hanns, Rizkallah, Pierre J, Lu, Qi L, Blake, Derek J

مصطلحات موضوعية: chaperone, fukutin-related protein, missense mutation, muscular dystrophy, protein misfolding, structural modelling

وصف الملف: application/pdf; application/zip; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/362599Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/362599Test