المؤلفون: Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K, Mayhew, Anna G, Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha‐Goebel, Diana X, Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Consortium, The Jain COS, Bourke, John, Straub, Volker

المصدر: Muscle & Nerve. 65(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Lung, Clinical Research, Electrocardiography, Female, Humans, Longitudinal Studies, Male, Muscular Dystrophies, Limb-Girdle, Phenotype, Jain COS Consortium, Miyoshi myopathy, cardiac, dysferlin, limb girdle muscular dystrophy R2, respiratory, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m77p2bg

المؤلفون: Nicolas-Martinez, Emmylou, C, Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark, A, Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare, L, Scheffer, Ingrid, E, Hildebrand, Michael, S, Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett, G, Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard, I, Evesson, Frances, J, Jones, Kristi, J, Azmanov, Dimitar, N, Barnett, Christopher, P, Barry, Simon, C, Baynam, Gareth, Berkovic, Samuel, F, Christodoulou, John, Coman, David, J, Cooper, Sandra, T, Delatycki, Martin, Dudding, Tracy, E, Fletcher, Sue, Gardner, Alison, E, Gecz, Jozef, Higgins, Megan, J, Jolly, Lachlan, A, Lister, Ryan, Mcgaughran, Julie, Poulton, Cathryn, Roscioli, Tony, Scheffer, Ingrid, Scott, Hamish S., Sinclair, Andrew, H, Spurdle, Amanda, B, Tan, Tiong, Y, Voineagu, Irina

المساهمون: The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, School of Biomedicine, Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Bio2M team (Inserm U1183), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Les Hôpitaux Universitaires de Strasbourg (HUS), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies rares des déficiences intellectuelles de causes rares (CHU Dijon) (CRMR des déficiences intellectuelles de causes rares), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), ANR-21-CE17-0053,IDGePhe-PAK,Etude de la relation Génotype-Phénotype dans la déficience intellectuelle pour améliorer le diagnostic et proposer des approches thérapeutiques personnalisées : exemple des mutations du gène PAK3(2021)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/39084224; hal-04668148; https://hal.science/hal-04668148; https://hal.science/hal-04668148/document; https://hal.science/hal-04668148/file/2024-Nicolas-Martinez%20Gecz%20Jolly%202024%20RNA%20variant%20assessment.pdf; PUBMED: 39084224

الاتاحة: https://hal.science/hal-04668148
https://hal.science/hal-04668148/document
https://hal.science/hal-04668148/file/2024-Nicolas-Martinez%20Gecz%20Jolly%202024%20RNA%20variant%20assessment.pdf
https://doi.org/10.1016/j.ajhg.2024.06.018

المؤلفون: Ma, Alan, Newing, Timothy P, O'Shea, Rosie, Gokoolparsadh, Akira, Murdoch, Emma, Hayward, Janette, Shannon, Gillian, Kevin, Lucy, Bennetts, Bruce, Ho, Gladys, Smith, Janine, Shah, Margit, Jones, Kristi J, Josephi‐Taylor, Sarah, Sandaradura, Sarah A, Adès, Lesley, Jamieson, Robyn, Rankin, Nicole M

المصدر: Journal of Paediatrics and Child Health ; volume 60, issue 4-5, page 118-124 ; ISSN 1034-4810 1440-1754

الاتاحة: http://dx.doi.org/10.1111/jpc.16547
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16547

المؤلفون: Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.

المساهمون: National Human Genome Research Institute, National Health and Medical Research Council, National Eye Institute

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 5, page 1250-1266 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.52041
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52041

المؤلفون: Ji, Charli, Kariyawasam, Didu S., Sampaio, Hugo, Lorentzos, Michelle, Jones, Kristi J., Farrar, Michelle A.

المساهمون: NHMRC

المصدر: The Lancet Regional Health - Western Pacific ; volume 45, page 101049 ; ISSN 2666-6065

الاتاحة: http://dx.doi.org/10.1016/j.lanwpc.2024.101049
https://api.elsevier.com/content/article/PII:S2666606524000439?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666606524000439?httpAccept=text/plain

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(4)

مصطلحات موضوعية: Humans, Neurofibroma, Plexiform, Neurofibromatosis 1, Genetic Predisposition to Disease, Neurofibromin 1, Sequence Deletion, Heterozygote, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Learning Disabilities, NF1, genotype–phenotype correlation, learning difficulties, neurofibroma, p.Met992del, genotype-phenotype correlation, Neurofibroma, Plexiform, Mutation, Missense, Preschool, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/06r3s5kf
https://escholarship.org/content/qt06r3s5kf/qt06r3s5kf.pdf

المؤلفون: Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K, Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G, Mori-Yoshimura, Madoka, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Diaz-Manera, Jordi, Straub, Volker

المساهمون: Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K, Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G, Mori-Yoshimura, Madoka, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Diaz-Manera, Jordi, Straub, Volker

مصطلحات موضوعية: Dysferlinopathy, Follistatin, Limb girdle muscular dystrophy R2, Miyoshi myopathy, Muscular dystrophy, Myostatin

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36689846; info:eu-repo/semantics/altIdentifier/wos/WOS:000925536300001; volume:33; issue:2; firstpage:199; lastpage:207; numberofpages:9; journal:NEUROMUSCULAR DISORDERS; https://hdl.handle.net/11577/3493377; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147894085

الاتاحة: https://hdl.handle.net/11577/3493377
https://doi.org/10.1016/j.nmd.2023.01.001

المؤلفون: Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M, Carlier, Pierre G, Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Straub, Volker, Díaz-Manera, Jordi

المساهمون: Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M, Carlier, Pierre G, Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Straub, Volker, Díaz-Manera, Jordi

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36972667; info:eu-repo/semantics/altIdentifier/wos/WOS:000989754100001; volume:33; issue:4; firstpage:349; lastpage:357; numberofpages:9; journal:JOURNAL OF NEUROMUSCULAR DISEASES; https://hdl.handle.net/11577/3493375; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151249663

الاتاحة: https://hdl.handle.net/11577/3493375
https://doi.org/10.1016/j.nmd.2023.02.007

المؤلفون: Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo, A, Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi, J, Kratz, Christian, P, Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian, M, Wimmer, Katharina, Burn, John, Jackson, Michael, S, Santibanez-Koref, Mauro

المساهمون: Département de cancérologie de l'enfant et de l'adolescent Gustave Roussy, Institut Gustave Roussy (IGR), Prédicteurs moléculaires et nouvelles cibles en oncologie (PMNCO), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Unité de génétique et biologie des cancers (U830), Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 0016-5085.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-04246268; https://hal.science/hal-04246268; https://hal.science/hal-04246268/document; https://hal.science/hal-04246268/file/GASTRO-D-22-02033R2_Accepted%20Manuscript.pdf

الاتاحة: https://hal.science/hal-04246268
https://hal.science/hal-04246268/document
https://hal.science/hal-04246268/file/GASTRO-D-22-02033R2_Accepted%20Manuscript.pdf
https://doi.org/10.1053/j.gastro.2022.12.017

المؤلفون: Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish-Dressman, Heather, Smith, Fiona E, Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Blamire, Andrew M, Straub, Volker, Carlier, Pierre G, Diaz-Manera, Jordi

المساهمون: Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish-Dressman, Heather, Smith, Fiona E, Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Blamire, Andrew M, Straub, Volker, Carlier, Pierre G, Diaz-Manera, Jordi

مصطلحات موضوعية: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2B, Limb girdle muscular dystrophy R2, Magnetic resonance imaging, Water T2

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36058852; info:eu-repo/semantics/altIdentifier/wos/WOS:000849917800001; volume:13; issue:6; firstpage:2888; lastpage:2897; numberofpages:10; journal:JOURNAL OF CACHEXIA, SARCOPENIA AND MUSCLE; https://hdl.handle.net/11577/3493387; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137325319

الاتاحة: https://hdl.handle.net/11577/3493387
https://doi.org/10.1002/jcsm.13063

المؤلفون: Moore, Ursula., Caldas de A. Araújo, Ericky, Reyngoudt, Harmen, Gordish-Dressman, Heather, Smith, Fiona E., Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Blamire, Andrew, Straub, Volker, Carlier, Pierre G., Diaz-Manera, Jordi

مصطلحات موضوعية: Magnetic resonance imaging, Water T2, Limb girdle muscular dystrophy, Limb girdle muscular dystrophy R2, Limb girdle muscular dystrophy 2B

وصف الملف: application/pdf

Relation: Journal of Cachexia, Sarcopenia and Muscle; Vol. 13 Núm. 6 (december 2022), p. 2888-2897; https://ddd.uab.cat/record/284169; urn:10.1002/jcsm.13063; urn:oai:ddd.uab.cat:284169; urn:scopus_id:85137325319; urn:articleid:21906009v13n6p2888; urn:pmid:36058852; urn:pmc-uid:9745487; urn:pmcid:PMC9745487; urn:oai:pubmedcentral.nih.gov:9745487

الاتاحة: https://ddd.uab.cat/record/284169

المؤلفون: Mayhew, Anna G, James, Meredith K, Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay N, Muni Lofra, Robert, Rufibach, Laura E, Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish-Dressman, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R, Straub, Volker

مصطلحات موضوعية: PROMs, clinical outcome assessments, dysferlinopathy, limb girdle muscular dystrophy, quality of life

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/20643; PMC8961025; https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961025/pdf

الاتاحة: http://hdl.handle.net/10668/20643
https://doi.org/10.3389/fneur.2022.828525
https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961025/pdf

المؤلفون: Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.

المصدر: Human Genetics and Genomics Advances ; volume 3, issue 4, page 100125 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2022.100125
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/plain

المؤلفون: Gonzalez, Tina, McLean, Alison, Fleming, Jane, Morris, Katrina, Pacque, Melissa, Forwood, Caitlin, Wong, Claire, Siow, Sue‐Faye, Barter, Sarah, Jones, Kristi J., Drummond, Katharine, Berman, Yemima

المصدر: Journal of Genetic Counseling ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1002/jgc4.1997
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1997

المؤلفون: Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith, K, Mayhew, Anna, G, Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura, E, Feng, Jia, Blamire, Andrew, M, Carlier, Pierre, G, Spuler, Simone, Day, John, W, Jones, Kristi, J, Bharucha-Goebel, Diana, X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie, C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Pax Lowes, Linda, Mendell, Jerry, R, Bushby, Kate, Straub, Volker

المساهمون: Newcastle University Newcastle, Georgetown University Washington (GU), CIBER de Enfermedades Raras (CIBERER), Hospital de la Santa Creu i Sant Pau, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Max Delbrück Center for Molecular Medicine Berlin (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, Stanford School of Medicine Stanford, Stanford Medicine, Stanford University-Stanford University, The University of Sydney, National Institutes of Health Bethesda (NIH), Neurologie, maladies neuro-musculaires Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Hospital Universitario Virgen del Rocío Sevilla, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Padova = University of Padua (Unipd), Abigail Wexner Research Institute, Nationwide Children's Hospital

المصدر: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.sorbonne-universite.fr/hal-03148942 ; Neuromuscular Disorders, 2021, ⟨10.1016/j.nmd.2021.01.009⟩.

مصطلحات موضوعية: [16] Clinical neurology examination, [176] All neuromuscular disease, [185] Muscle disease, [21] Clinical trials methodology, [54] Cohort study, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33610434; hal-03148942; https://hal.sorbonne-universite.fr/hal-03148942; https://hal.sorbonne-universite.fr/hal-03148942/document; https://hal.sorbonne-universite.fr/hal-03148942/file/1-s2.0-S0960896621000109-main.pdf; PUBMED: 33610434

الاتاحة: https://hal.sorbonne-universite.fr/hal-03148942
https://hal.sorbonne-universite.fr/hal-03148942/document
https://hal.sorbonne-universite.fr/hal-03148942/file/1-s2.0-S0960896621000109-main.pdf
https://doi.org/10.1016/j.nmd.2021.01.009

المؤلفون: Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

Relation: https://mediatum.ub.tum.de/1625082; https://mediatum.ub.tum.de/doc/1625082/document.pdf

الاتاحة: https://mediatum.ub.tum.de/1625082
https://mediatum.ub.tum.de/doc/1625082/document.pdf
https://doi.org/10.1038/s41436-021-01196-9

المؤلفون: Jacobs, Marni B, James, Meredoith K, Lowes, Linda P, Alfano, Lindsay N, Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E, Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sanchez-Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R, Jain COS Consortium, Mayhew, Anna G, Straub, Volker

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Child, Clinical Trials as Topic, Cohort Studies, Disease Progression, Female, Humans, Longitudinal Studies, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Psychometrics, Treatment Outcome, Young Adult

Relation: http://hdl.handle.net/10668/17164

الاتاحة: http://hdl.handle.net/10668/17164
https://doi.org/10.1002/ana.26044
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.26044

المؤلفون: Vasiljevski, Emily R., Burns, Joshua, Bray, Paula, Donlevy, Gabrielle, Mudge, Anita J., Jones, Kristi J., Summers, Matthew A., Biggin, Andrew, Munns, Craig F., McKay, Marnee J., Baldwin, Jennifer N., Little, David G., Schindeler, Aaron

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 10, page 2976-2985 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62392
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62392
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62392

المؤلفون: Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.

المصدر: Neurology Genetics ; volume 7, issue 1 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000554
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000554

المؤلفون: Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Molecular genetics and metabolism, 137(1-2), 62-67. Academic Press Inc.

مصطلحات موضوعية: Literature review, Purine-Pyrimidine Metabolism, Inborn Errors, Brain Diseases, Movement Disorders, Carrier frequency, Endocrinology, Diabetes and Metabolism, UPB1, Beta-ureidopropionase deficiency, Biochemistry, Phenotype, Endocrinology, β-ureidopropionase, Genetics, Humans, Variant, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2ffb0acc2a4af0f41d503499b2644d
http://www.scopus.com/inward/record.url?scp=85135508068&partnerID=8YFLogxK