المؤلفون: Servais, Laurent, Horton, Rebecca, Saade, Dimah, Bonnemann, Carsten, Muntoni, Francesco, 261st ENMC workshop study group

المصدر: Neuromuscular Disorders, 33 (11), 884 - 896 (2023-11); 261st ENMC International Workshop:, 17th-19th June 2022

مصطلحات موضوعية: Duchenne, Gene therapy, Immunity, Safety, Serious adverse event, Spinal miuscular atrophy, X linked myotubular myopathy, Humans, Dependovirus/genetics, Genetic Therapy/adverse effects, Netherlands, Muscular Dystrophy, Duchenne/genetics, Neuromuscular Diseases/therapy, Dependovirus, Genetic Therapy, Muscular Dystrophy, Duchenne, Neuromuscular Diseases, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S0960896623007344?httpAccept=text/xml; urn:issn:0960-8966; urn:issn:1873-2364

URL الوصول: https://orbi.uliege.be/handle/2268/324966

المؤلفون: Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A, Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R, van de Pol, Laura A, van Hagen, Johanna M, Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F, Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R, Calame, Daniel G, Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A, Dobyns, William B, Calvas, Patrick, Study, The DDD, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M, Tremblay, André, Michaud, Jacques L

المصدر: Genetics in Medicine. 25(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Humans, Receptors, Retinoic Acid, Retinoids, Microphthalmos, DDD Study, Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta, Clinical Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/30t610jx

المؤلفون: Jeffries, Lauren, Mis, Emily K, McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N, Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S, Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B, Banka, Siddharth, Chao, Katherine R, Cobbold, Laura, Cohen, Stacey, Custodio, Helena M, Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E, Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E, Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P, Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M, Stals, Karen, Towner, Shelley, Wilson, William, Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Khokha, Mustafa K, Bönnemann, Carsten G, Lucas, Carrie L, Lakhani, Saquib A

المصدر: Genetics Medecine , 26 (2) , Article 101023. (2024)

مصطلحات موضوعية: CRELD1, developmental delay, epilepsy, hypotonia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10183303/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10183303/1/Sisodiya_CRELD1%20-%20pre-publish%20November%202023.pdf
https://discovery.ucl.ac.uk/id/eprint/10183303/

المؤلفون: Geist Hauserman, Janelle, Laverty, Chamindra G., Donkervoort, Sandra, Hu, Ying, Silverstein, Sarah, Neuhaus, Sarah B., Saade, Dimah, Vaughn, Gabrielle, Malicki, Denise, Kaur, Rupleen, Li, Yuesheng, Luo, Yan, Liu, Poching, Burr, Patrick, Foley, A. Reghan, Mohassel, Payam, Bönnemann, Carsten G.

المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, University of California, San Diego, National Institutes of Health, National Heart, Lung, and Blood Institute

المصدر: Human Genetics and Genomics Advances ; volume 5, issue 2, page 100274 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2024.100274
https://api.elsevier.com/content/article/PII:S2666247724000137?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247724000137?httpAccept=text/plain

المؤلفون: Lawlor, Michael W., Schoser, Benedikt, Margeta, Marta, Sewry, Caroline A., Jones, Karra A., Shieh, Perry B., Kuntz, Nancy L., Smith, Barbara K., Dowling, James J., Müller-Felber, Wolfgang, Bönnemann, Carsten G., Seferian, Andreea M., Blaschek, Astrid, Neuhaus, Sarah, Foley, A. Reghan, Saade, Dimah N., Tsuchiya, Etsuko, Qasim, Ummulwara R., Beatka, Margaret, Prom, Mariah J., Ott, Emily, Danielson, Susan, Krakau, Paul, Kumar, Suresh N., Meng, Hui, Vanden Avond, Mark, Wells, Clive, Gordish-Dressman, Heather, Beggs, Alan H., Christensen, Sarah, Conner, Edward, James, Emma S., Lee, Jun, Sadhu, Chanchal, Miller, Weston, Sepulveda, Bryan, Varfaj, Fatbardha, Prasad, Suyash, Rico, Salvador

المصدر: eBioMedicine ; volume 99, page 104894 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2023.104894
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/plain

المؤلفون: Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

المصدر: The Lancet Neurology, 22 (12), 1125 - 1139 (2023-12)

مصطلحات موضوعية: Male, Child, Humans, Infant, Child, Preschool, France, Genetic Therapy/adverse effects, Germany, Treatment Outcome, Myopathies, Structural, Congenital/genetics, Myopathies, Structural, Congenital/therapy, Sepsis, Genetic Therapy, Myopathies, Structural, Congenital, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S1474442223003137?httpAccept=text/xml; urn:issn:1474-4422; urn:issn:1474-4465

URL الوصول: https://orbi.uliege.be/handle/2268/324969

المؤلفون: Horton, Rebecca, Saade, Dimah, Bonnemann, Carsten, Muntoni, Francesco, Harriss, Elinor, Servais, Laurent

المصدر: British Paediatric Neurology Association ; page A200.2-A200

الاتاحة: https://doi.org/10.1136/archdischild-2023-rcpch.317
https://syndication.highwire.org/content/doi/10.1136/archdischild-2023-rcpch.317

المؤلفون: Morales-Rosado, Joel A., Schwab, Tanya L., Macklin-Mantia, Sarah K., Foley, A. Reghan, Pinto e Vairo, Filippo, Pehlivan, Davut, Donkervoort, Sandra, Rosenfeld, Jill A., Boyum, Grace E., Hu, Ying, Cong, Anh T.Q., Lotze, Timothy E., Mohila, Carrie A., Saade, Dimah, Bharucha-Goebel, Diana, Chao, Katherine R., Grunseich, Christopher, Bruels, Christine C., Littel, Hannah R., Estrella, Elicia A., Pais, Lynn, Kang, Peter B., Zimmermann, Michael T., Lupski, James R., Lee, Brendan, Schellenberg, Matthew J., Clark, Karl J., Wierenga, Klaas J., Bönnemann, Carsten G., Klee, Eric W.

المصدر: The American Journal of Human Genetics ; volume 110, issue 6, page 989-997 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.04.006
https://api.elsevier.com/content/article/PII:S0002929723001301?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723001301?httpAccept=text/plain

المؤلفون: Servin-Vences, M. Rocio, Lam, Ruby M., Koolen, Alize, Wang, Yu, Saade, Dimah N., Loud, Meaghan, Kacmaz, Halil, Frausto, Suzanne, Zhang, Yunxiao, Beyder, Arthur, Marshall, Kara L., Bönnemann, Carsten G., Chesler, Alexander T., Patapoutian, Ardem

المصدر: Cell ; volume 186, issue 16, page 3386-3399.e15 ; ISSN 0092-8674

الاتاحة: http://dx.doi.org/10.1016/j.cell.2023.07.006
https://api.elsevier.com/content/article/PII:S0092867423007390?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0092867423007390?httpAccept=text/plain

المؤلفون: Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês, Deshpande, Charu, Chitre, Manali, Mehta, Sarju, Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten, Chao, Katherine, Cai, Chunyu, Iannaccone, Susan, Dean, Andrew, Mcfarland, Robert, Vaz, Frédéric, Delahodde, Agnès, Taylor, Robert, Rötig, Agnès

المساهمون: Newcastle University Newcastle, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut des Sciences Analytiques (ISA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), King‘s College London, Guy's and St Thomas' NHS Foundation Trust, Cambridge University Hospitals - NHS (CUH), University of Cambridge UK (CAM), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Public Health Research Institute The Netherlands, Amsterdam University Medical Centers (Amsterdam UMC), Laboratoire sur les interactions Epithéliums Neurones (LIEN), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), National Institute of Neurological Disorders and Stroke Bethesda (NINDS), National Institutes of Health Bethesda, MD, USA (NIH), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, University of Texas Southwestern Medical Center Dallas, Newcastle Upon Tyne Hospitals NHS Foundation Trust, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-15-RAR3-0012,GENOMIT,Mitochondrial Disorders- from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options(2015), ANR-16-CE16-0025,MitoMotor,Mutations du gène CHCHD10: comment un déficit mitochondrial conduit à la mort des motoneurones(2016)

المصدر: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-03675447 ; Human Genetics and Genomics Advances, 2022, 3 (2), pp.100097. ⟨10.1016/j.xhgg.2022.100097⟩ ; https://www.sciencedirect.com/science/article/pii/S2666247722000136?via%3Dihub

مصطلحات موضوعية: OXPHOS defect, WES/WGS, cardiolipin, mitochondria, mitochondrial disease, mitochondrial phospholipid, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [CHIM]Chemical Sciences

Relation: info:eu-repo/semantics/altIdentifier/pmid/35321494; PUBMED: 35321494; PUBMEDCENTRAL: PMC8935507

الاتاحة: https://hal.science/hal-03675447
https://hal.science/hal-03675447v1/document
https://hal.science/hal-03675447v1/file/A1608201-6CCE-4BB0-A991-F48AA09F9EF7.pdf%26pub_id%3D281161
https://doi.org/10.1016/j.xhgg.2022.100097

المؤلفون: Horton, Rebecca H, Saade, Dimah, Markati, Theodora, Harriss, Elinor, Bonnemann, Carsten G, Muntoni, Francesco, Servais, Laurent

المصدر: Journal of Neurology, Neurosurgery & Psychiatry (2022) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Psychiatry, Surgery, Neurosciences & Neurology, SPINAL MUSCULAR-ATROPHY, ACID DECARBOXYLASE DEFICIENCY, 1/2 CLINICAL-TRIAL, ONASEMNOGENE ABEPARVOVEC, OPEN-LABEL, IMMUNE-RESPONSES, REPLACEMENT THERAPY, SINGLE-ARM, FACTOR-IX, PHASE-I

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10157751/1/Muntoni_AAV%20Gene%20Therapy%20Final%20for%20Open%20Access%20%28without%20tables%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10157751/2/Muntoni_Tables%20for%20SRAAV%2037.pdf; https://discovery.ucl.ac.uk/id/eprint/10157751/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10157751/1/Muntoni_AAV%20Gene%20Therapy%20Final%20for%20Open%20Access%20%28without%20tables%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10157751/2/Muntoni_Tables%20for%20SRAAV%2037.pdf
https://discovery.ucl.ac.uk/id/eprint/10157751/

المؤلفون: Jensen, Braden S, Willer, Tobias, Saade, Dimah N, Cox, Mary O, Mozaffar, Tahseen, Scavina, Mena, Stefans, Vikki A, Winder, Thomas L, Campbell, Kevin P, Moore, Steven A, Mathews, Katherine D

المصدر: Human Mutation. 36(12)

مصطلحات موضوعية: Pediatric, Clinical Research, Rare Diseases, Muscular Dystrophy, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Adolescent, Alleles, Biopsy, Brain, Child, Child, Preschool, Dystroglycans, Female, Genetic Association Studies, Heterozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Muscle, Skeletal, Muscular Dystrophies, Mutation, Nucleotidyltransferases, Phenotype, Young Adult, GMPPB, dystroglycanopathy, limb-girdle muscular dystrophy, congenital muscular dystrophy, congenital myasthenic syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2873v7z5

المؤلفون: Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bonnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, Chesler, Alexander T.

المصدر: Nature Communications. 12(1)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-174150
https://liu.diva-portal.org/smash/get/diva2:1537222/FULLTEXT01.pdf

المؤلفون: Sandgren, Jeremy A., Moon Ley Tung, Berrebi, Kristen G., Saade, Dimah N., Bermick, Jennifer R., Lee, Stephanie S., Stanford, Amy H.

المصدر: Pediatrics; Aug2024, Vol. 154 Issue 2, p1-4, 4p

المؤلفون: Iyer, Alexander A., Saade, Dimah, Bharucha-Goebel, Diana, Foley, A. Reghan, Averion, Gilberto ‘Mike’, Paredes, Eduardo, Gray, Steven, Bönnemann, Carsten G., Grady, Christine, Hendriks, Saskia, Rid, Annette

المصدر: Genetics in Medicine ; volume 23, issue 11, page 2057-2066 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01245-3
https://www.nature.com/articles/s41436-021-01245-3.pdf
https://www.nature.com/articles/s41436-021-01245-3
https://api.elsevier.com/content/article/PII:S1098360021051716?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051716?httpAccept=text/plain

المؤلفون: Szczot, Marcin, Bouchatta, Otmane, Brodzki, Marek, Manouze, Houria, Carballo, Gabriela, Yu, Huasheng, Kindström, Emma, de-Faria, Felipe, Thorell, Oumie, Kao, Anika, Liljencrantz, Jaquette, Karlsson, Christoffer, Capitán, Melisa Maidana, Ng, Kevin, Frangos, Eleni, Ragnemalm, Bengt, Saade, Dimah, Bharucha-Goebel, Diana, Szczot, Ilona, Moore, Warren, Terejko, Katarzyna, Cole, Jonathan, Bönnemann, Carsten, Gerling, Gregory, Mahns, David, Larsson, Max, Luo, Wenqin, Marshall, Andrew, Chesler, Alexander, Olausson, Håkan, Nagi, Saad

الاتاحة: https://doi.org/10.21203/rs.3.rs-5419152/v1
https://www.researchsquare.com/article/rs-5419152/v1
https://www.researchsquare.com/article/rs-5419152/v1.html

المؤلفون: Marshall, Kara L., Saade, Dimah, Ghitani, Nima, Coombs, Adam M., Szczot, Marcin, Keller, Jason, Ogata, Tracy, Daou, Ihab, Stowers, Lisa T., Bönnemann, Carsten G., Chesler, Alexander T., Patapoutian, Ardem

المصدر: Nature ; volume 588, issue 7837, page 290-295 ; ISSN 0028-0836 1476-4687

الاتاحة: http://dx.doi.org/10.1038/s41586-020-2830-7
https://www.nature.com/articles/s41586-020-2830-7.pdf
https://www.nature.com/articles/s41586-020-2830-7

المؤلفون: Brooks, Philip J., Ottinger, Elizabeth A., Portero, Deanna, Lomash, Richa Madan, Alimardanov, Asaf, Terse, Pramod, Xu, Xin, Chandler, Randy J., Hauserman, Janelle Geist, Esposito, Eric, Bönnemann, Carsten G., Venditti, Charles P., Austin, Christopher P., Pariser, Anne, Lo, Donald C., Averion, Gilberto V., Balakrishnan, Krishna, Burden, Steven J., Campbell, Eggerton, Chen, Catherine, Driscoll, Claire, Dukhanina, Oksana, Ferry, Susan, Foley, A. Reghan, Li, Lina, Manoli, Irini, Mendoza, Christopher, Oury, Julien, Porter, Forbes D., Portilla, Lili, Saade, Dimah, Shchelochkov, Oleg A., Sloan, Jennifer L., Todd, Joshua, Toney, London, Ryzin, Carol Van, Vepa, Sury, Wagner, Erik, Wang, Amy

المصدر: Human Gene Therapy ; volume 31, issue 19-20, page 1034-1042 ; ISSN 1043-0342 1557-7422

الاتاحة: http://dx.doi.org/10.1089/hum.2020.259
https://www.liebertpub.com/doi/full-xml/10.1089/hum.2020.259
https://www.liebertpub.com/doi/pdf/10.1089/hum.2020.259

المؤلفون: Nagi, Saad S., Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderstrom, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A. Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bonnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, Olausson, Hakan

المصدر: Science Advances. 5(7)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-166419
https://doi.org/10.1126/sciadv.aaw1297
https://umu.diva-portal.org/smash/get/diva2:1379230/FULLTEXT01.pdf

المؤلفون: Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.

المساهمون: UAM. Departamento de Anatomía, Histología y Neurociencia, UAM. Departamento de Medicina, Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

مصطلحات موضوعية: FXR1, FXR1P, Recessive mutations, Myopath, Protein, Medicina

وصف الملف: application/pdf

Relation: Nature Communications; https://doi.org/10.1038/s41467-019-08548-9; Gobierno de España. SAF2013-43365- R; Gobierno de España. SAF2016-75434-R; Nature Communications 10.1 (2019): 797; http://hdl.handle.net/10486/688388; 797-1; 797-19; 10

الاتاحة: http://hdl.handle.net/10486/688388
https://doi.org/10.1038/s41467-019-08548-9