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1Academic Journal
المؤلفون: Servais, Laurent, Strijbos, Paul, Poleur, Margaux, Mirea, Andrada, Butoianu, Nina, Sansone, Valeria A, Vuillerot, Carole, Schara-Schmidt, Ulrike, Scoto, Mariacristina, Seferian, Andreea M, Previtali, Stefano C, Tulinius, Már, Nascimento, Andrés, Furlong, Pat, Singh, Teji, Dreghici, Roxana Donisa, Goemans, Nathalie, Mercuri, Eugenio, Straub, Volker, Ormazabal, Maitea Guridi, Braid, Jessica, Muntoni, Francesco, Tricot, Alexis, Annoussamy, Mélanie, Eggenspieler, Damien
المصدر: Scientific Reports, 14 (1), 29681 (2024-11-29)
مصطلحات موضوعية: Digital endpoints, Duchenne muscular dystrophy, Regulatory qualification, Stride Velocity 95th Centile, V3 framework, Wearables, Humans, Adolescent, Child, Child, Preschool, Male, Wearable Electronic Devices, Disease Progression, Outcome Assessment, Health Care/methods, Treatment Outcome, Clinical Trials as Topic, Endpoint Determination, Muscular Dystrophy, Duchenne/drug therapy, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://www.nature.com/articles/s41598-024-80177-9.pdf; urn:issn:2045-2322
URL الوصول: https://orbi.uliege.be/handle/2268/324960
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2Academic Journal
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
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3Academic Journal
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
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4Academic Journal
المؤلفون: Anthony, Karen, Ala, Pierpaolo, Catapano, Francesco, Meng, Jinhong, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Maresh, Kate, Phillips, Lauren C, Servais, Laurent, Seferian, Andreea M, De Lucia, Silvana, de Groot, Imelda, Krom, Yvonne D, Verschuuren, J G M, Niks, Erik H, Straub, Volker, Guglieri, Michela, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco
المصدر: Human Gene Therapy, 34 (9-10), 439 - 448 (2023-05)
مصطلحات موضوعية: Duchenne muscular dystrophy, ELISPOT assay, dystrophin, immune response, revertant fibers, Dystrophin, Male, Humans, Child, Dystrophin/genetics, Leukocytes, Mononuclear/metabolism, T-Lymphocytes/metabolism, Muscle, Skeletal/metabolism, Muscular Dystrophy, Duchenne/genetics, Leukocytes, Mononuclear, Muscle, Skeletal, Muscular Dystrophy, Duchenne, T-Lymphocytes, Molecular Medicine, Molecular Biology, Genetics, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://www.liebertpub.com/doi/full-xml/10.1089/hum.2022.166; urn:issn:1043-0342; urn:issn:1557-7422
URL الوصول: https://orbi.uliege.be/handle/2268/325167
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5Academic Journal
المؤلفون: Dangouloff, Tamara, Hiligsmann, Mickael, Deconinck, Nicolas, D'Amico, Adèle, Seferian, Andreea M, Boemer, François, Servais, Laurent
المصدر: Dangouloff , T , Hiligsmann , M , Deconinck , N , D'Amico , A , Seferian , A M , Boemer , F & Servais , L 2023 , ' Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening ' , Developmental Medicine and Child Neurology , vol. 65 , no. 1 , pp. 67-77 . https://doi.org/10.1111/dmcn.15286
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Dangouloff, Tamara, Hiligsmann, Mickael, Deconinck, Nicolas, D'Amico, Adèle, Seferian, Andreea M, Boemer, François, Servais, Laurent
المصدر: Developmental Medicine and Child Neurology (2022-06-08)
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Developmental Neuroscience, Neurology (clinical), Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie
Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15286; urn:issn:0012-1622; urn:issn:1469-8749
URL الوصول: https://orbi.uliege.be/handle/2268/295918
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7Academic Journal
المؤلفون: Dowling, James J, Müller-Felber, Wolfgang, Smith, Barbara K, Bönnemann, Carsten G, Kuntz, Nancy L, Muntoni, Francesco, Servais, Laurent, Alfano, Lindsay N, Beggs, Alan H, Bilder, Deborah A, Blaschek, Astrid, Duong, Tina, Graham, Robert J, Jain, Minal, Lawlor, Michael W, Lee, Jun, Coats, Julie, Lilien, Charlotte, Lowes, Linda P, MacBean, Victoria, Neuhaus, Sarah, Noursalehi, Mojtaba, Pitts, Teresa, Finlay, Caroline, Christensen, Sarah, Rafferty, Gerrard, Seferian, Andreea M, Tsuchiya, Etsuko, James, Emma S, Miller, Weston, Sepulveda, Bryan, Vila, Maria Candida, Prasad, Suyash, Rico, Salvador, Shieh, Perry B, INCEPTUS investigators, .
المصدر: Journal of Neuromuscular Diseases , 9 (4) pp. 503-516. (2022)
مصطلحات موضوعية: X-linked myotubular myopathy, centronuclear myopathy, mechanical, motor disorders, neuromuscular diseases, respiratory failure, ventilators
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10155738/1/jnd_2022_9-4_jnd-9-4-jnd210781_jnd-9-jnd210781.pdf; https://discovery.ucl.ac.uk/id/eprint/10155738/
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8Academic Journal
المؤلفون: Servais, Laurent, Mercuri, Eugenio, Straub, Volker, Guglieri, Michela, Seferian, Andreea M., Scoto, Mariacristina, Leone, Daniela, Koenig, Erica, Khan, Navid, Dugar, Ashish, Wang, Xiaodong, Han, Baoguang, Wang, Dan, Muntoni, Francesco
المصدر: Nucleic Acid Therapeutics, 32 (1), 29-39 (2022-02)
مصطلحات موضوعية: Duchenne muscular dystrophy, exon skipping, golodirsen, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie
Relation: urn:issn:2159-3337; urn:issn:2159-3345; https://orbi.uliege.be/handle/2268/268480; info:hdl:2268/268480; info:pmid:34788571
الاتاحة: https://orbi.uliege.be/handle/2268/268480
https://orbi.uliege.be/bitstream/2268/268480/1/Long-term%20safety%20and%20efficacy%20data%20of%20Golodirsen%20in%20ambulatory%20patients%20with%20Duchenne%20muscular%20dystrophy%20amenable%20ton%20Exon%2053%20Skipping.pdf
https://doi.org/10.1089/nat.2021.0043 -
9Academic Journal
المؤلفون: vanden Brande, Laura, Bauché, Stéphanie, Pérez‐Guàrdia, Laura, Sternberg, Damien, Seferian, Andreea M., Malfatti, Edoardo, Silva‐Rojas, Roberto, Labasse, Clémence, Chevessier, Frédéric, Carlier, Pierre, Eymard, Bruno, Romero, Norma B., Laporte, Jocelyn, Servais, Laurent, Gidaro, Teresa, Böhm, Johann
المساهمون: French Muscular Dystrophy Association, Fondation Maladies Rares, Fondation pour la Recherche Médicale
المصدر: Neuropathology and Applied Neurobiology ; volume 50, issue 1 ; ISSN 0305-1846 1365-2990
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10Academic Journal
المؤلفون: Annoussamy, Mélanie, Seferian, Andreea, M, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, de Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent
المساهمون: 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), SYSNAV, Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospitals Leuven Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Hôpital de Hautepierre Strasbourg, Universität Duisburg-Essen = University of Duisburg-Essen Essen, University of Oxford, Nationwide Children's Hospital, Hoffman-La Roche Ltd, Translational Medicine, Neuroscience, Institut ROCHE Boulogne-Billancourt, Roche S.A.S, Roche Innovation Center Basel, Switzerland, Pfizer
المصدر: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.sorbonne-universite.fr/hal-03426396 ; Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Muscle Strength, MESH: Muscular Atrophy, Spinal, MESH: Nerve Tissue Proteins, MESH: RNA-Binding Proteins, MESH: Respiratory Function Tests, MESH: Severity of Illness Index, MESH: Time Factors, MESH: Upper Extremity, MESH: Young Adult, MESH: Child, Preschool, MESH: Disability Evaluation, MESH: Disease Progression, MESH: Humans, MESH: Longitudinal Studies, MESH: Magnetic Resonance Imaging, MESH: Motor Activity, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Relation: info:eu-repo/semantics/altIdentifier/pmid/33369268; hal-03426396; https://hal.sorbonne-universite.fr/hal-03426396; https://hal.sorbonne-universite.fr/hal-03426396/document; https://hal.sorbonne-universite.fr/hal-03426396/file/acn3.51281.pdf; PUBMED: 33369268; PUBMEDCENTRAL: PMC7886049
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11Academic Journal
المؤلفون: Fouarge, Eve, Monseur, Arnaud, Boulanger, Bruno, Annoussamy, Mélanie, Seferian, Andreea M., de Lucia, Silvana, Lilien, Charlotte, Thielemans, Leen, Paradis, Khazal, Cowling, Belinda, Freitag, Chris, Carlin, Bradley P., Servais, Laurent, Nathis, M. T. M. Study Group
المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03713637 ; Orphanet Journal of Rare Diseases, 2021, 16, ⟨10.1186/s13023-020-01663-7⟩.
مصطلحات موضوعية: [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
Relation: hal-03713637; https://hal.science/hal-03713637; https://hal.science/hal-03713637/document; https://hal.science/hal-03713637/file/s13023-020-01663-7.pdf; PUBMEDCENTRAL: PMC7789189
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12Academic Journal
المؤلفون: Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.
المصدر: Human Gene Therapy ; volume 31, issue 15-16, page 787-787 ; ISSN 1043-0342 1557-7422
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13Academic Journal
المؤلفون: Menard, Joris, Seferian, Andreea M, Fleurence, Emmanuelle, Barzic, Audrey, Binoche, Alexandra, Labouret, Géraldine, Coutier, Laurianne, Vuillerot, Carole, Bieleu, Blaise M, Gomez Garcia de la Banda, Marta, Corvol, Harriet, Servais, Laurent, Taytard, Jessica
المصدر: Pediatric Pulmonology (2022-03-20)
مصطلحات موضوعية: children, nocturnal gas exchange, noninvasive ventilation, nusinersen, respiratory management, spinal muscular atrophy type 1, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie
Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.25899; urn:issn:8755-6863; urn:issn:1099-0496
URL الوصول: https://orbi.uliege.be/handle/2268/289972
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14
المؤلفون: Boursange, Sophie, Araneda, Marco, K. Mariampillai, Desguerres, Isabelle, MC Nougues, Quijano-Roy, Susana, Seferian, Andreea M., De Lucia, Silvana, Barnerias, Christine, Isapof, Arnaud, De La Banda, Marta Gómez García, A Benezit, Herson Ariane, Poncet, Sarah, Debs, Nayla, Hully, Marie, E. Deladrière, V. Germa, N. Blu Genestine, Ouillade, Laëtitia, Laich, Laetitia, Maripaz Martínez, Suarez, Bernardita, J Joffre, Born, Macarena, K Alvarez, Castiglioni, Claudia, Boespflug-Tanguy, Odile, M. Gargiulo
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15Academic Journal
المؤلفون: Seferian, Andreea M., Malfatti, Edoardo, Bosson, Caroline, Pelletier, Laurent, Taytard, Jessica, Forin, Veronique, Gidaro, Teresa, Gargaun, Elena, Carlier, Pierre, Fauré, Julien, Romero, Norma B., Rendu, John, Servais, Laurent
المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie (U153 Inserm - IM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), NMR Laboratory, Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.sorbonne-universite.fr/hal-01402113 ; Neuromuscular Disorders, 2016, 26 (10), pp.712 - 716. ⟨10.1016/j.nmd.2016.07.011⟩.
مصطلحات موضوعية: Nemaline myopathy, KLHL40, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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16Academic Journal
المؤلفون: Aragon-Gawinska, Karolina, Seferian, Andreea M., DARON, Aurore, Gargaun, Elena, Vuillerot, Carole, Cances, Claude, Ropars, Juliette, Chouchane, Mondher, Cuppen, Inge, Hughes, Imelda, Illingworth, Marjorie, Marini-Bettolo, Chiara, Rambaud, Jerome, Taytard, Jessica, Annoussamy, Melanie, Scoto, Mariacristina, Gidaro, Teresa, Servais, Laurent
المصدر: Neurology, 91 (14), e1312-e1318 (2018-10)
مصطلحات موضوعية: Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie
Relation: urn:issn:0028-3878; urn:issn:1526-632X
URL الوصول: https://orbi.uliege.be/handle/2268/232855
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17Academic Journal
المؤلفون: Bolocan, Anamaria, Quijano-Roy, Susana, Seferian, Andreea M., Baumann, Clarisse, Allamand, Valérie, Richard, Pascale, Estournet, Brigitte, Carlier, Robert, Cavé, Hélène, Gartioux, Corine, Blin, Nathalie, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Germain, Dominique P., Fardeau, Michel, Voit, Thomas, Servais, Laurent, Romero, Norma Beatriz
المصدر: Neuromuscular Disorders ; volume 24, issue 11, page 993-998 ; ISSN 0960-8966
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18Periodical
المؤلفون: Servais, Laurent, Montus, Marie, Guiner, Caroline Le, Ben Yaou, Rabah, Annoussamy, Mélanie, Moraux, Amélie, Hogrel, Jean-Yves, Seferian, Andreea M., Zehrouni, Karima, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Vanhulle, Catherine, Laugel, Vincent, Butoianu, Nina, Cuisset, Jean-Marie, Sabouraud, Pascal, Cances, Claude, Klein, Andrea, Leturcq, France, Moullier, Philippe, Voit, Thomas
المصدر: Journal of Neuromuscular Diseases; September 2015, Vol. 2 Issue: 3 p269-279, 11p