المؤلفون: Sobotka, Sarah A., Lynch, Emma, Liao, Chuanhong, Graham, Robert J., Msall, Michael E.

المساهمون: National Institute of Child Health and Human Development

المصدر: Pediatric Pulmonology ; volume 59, issue 5, page 1380-1387 ; ISSN 8755-6863 1099-0496

الإتاحة: https://doi.org/10.1002/ppul.26921Test

المؤلفون: Bullivant, Joanne, Sen, Anando, Page, Jess, Graham, Robert J., Jungbluth, Heinz, Schara-Schmidt, Ulrike, Lynch, Orla, Bönnemann, Carsten, Hollander, Aart den, Lennox, Anne, Moat, Dionne, Saegert, Claudia, Amburgey, Kimberly, Buj-Bello, Ana, Dowling, James J., Marini-Bettolo, Chiara

المصدر: Neuromuscular Disorders ; volume 35, page 42-52 ; ISSN 0960-8966

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

الإتاحة: https://doi.org/10.1016Test/j.nmd.2023.10.014
https://api.elsevier.com/content/article/PII:S0960896623007599?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623007599?httpAccept=text/plainTest

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) pp. 1125-1139. (2023)

مصطلحات موضوعية: Male, Child, Humans, Infant, Preschool, France, Genetic Therapy, Myopathies, Structural, Congenital, Sepsis, Germany, Treatment Outcome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10182401/1/PIIS1474442223003137.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10182401Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10182401/1/PIIS1474442223003137.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10182401Test/

المؤلفون: Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, Beggs, Alan H.

المساهمون: Astellas Gene Therapies, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Muscular Dystrophy Association, Joshua Frase Foundation

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02733-2Test

المؤلفون: O'Hara, Jill E., Graham, Robert J.

المصدر: Pediatric Pulmonology ; ISSN 8755-6863 1099-0496

الإتاحة: https://doi.org/10.1002/ppul.27116Test

المؤلفون: Murphy Salem, Sinead L., Perez, Jennifer M., Staffa, Steven J., Duncan, Christine N., Graham, Robert J.

المصدر: Pediatric Critical Care Medicine ; ISSN 1529-7535

الإتاحة: https://doi.org/10.1097/pcc.0000000000003478Test

المؤلفون: Graham, Robert J.

المصدر: JAMA Network Open ; volume 7, issue 3, page e241816 ; ISSN 2574-3805

الإتاحة: https://doi.org/10.1001/jamanetworkopen.2024.1816Test
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2816223/graham_2024_ic_240023_1709923051.23331.pdfTest

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10155738/1/jnd_2022_9-4_jnd-9-4-jnd210781_jnd-9-jnd210781.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10155738Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10155738/1/jnd_2022_9-4_jnd-9-4-jnd210781_jnd-9-jnd210781.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10155738Test/

المؤلفون: Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J, Miller, Weston, Sepulveda, Bryan, Kamath, Binita M, Meng, Hui, Lawlor, Michael W

مصطلحات موضوعية: X-linked myotubular myopathy, hepatobiliary disease, intrahepatic cholestasis, liver abnormalities, myotubularin, Biopsy, Cholestasis, Intrahepatic, Fatal Outcome, Humans, Infant, Male, Myopathies, Structural, Congenital

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/20513Test; PMC8842755; https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd210712?id=journal-of-neuromuscular-diseases%2Fjnd210712Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/pdfTest

الإتاحة: https://doi.org/10.3233/JND-210712Test
http://hdl.handle.net/10668/20513Test
https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd210712?id=journal-of-neuromuscular-diseases%2Fjnd210712Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/pdfTest

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.

المصدر: Dowling , J J , Müller-Felber , W , Smith , B K , Bönnemann , C G , Kuntz , N L , Muntoni , F , Servais , L , Alfano , L N , Beggs , A H , Bilder , D A , Blaschek , A , Duong , T , Graham , R J , Jain , M , Lawlor , M W , Lee , J , Coats , J , Lilien , C , Lowes , L P , MacBean , V , Neuhaus , S , Noursalehi , M , Pitts ....

مصطلحات موضوعية: centronuclear myopathy, mechanical, motor disorders, neuromuscular diseases, respiratory failure, ventilators, X-linked myotubular myopathy

الإتاحة: https://doi.org/10.3233/JND-210781Test
https://kclpure.kcl.ac.uk/portal/en/publications/a990ed9e-e596-4afe-ae54-a3e54417705fTest
http://www.scopus.com/inward/record.url?scp=85133659377&partnerID=8YFLogxKTest