المؤلفون: Roper, Helen

المصدر: NZ science teacher, Jun 2009; n.121:p.48
New Zealand science teacher

المؤلفون: Crow, Rebecca, Hart, Kimberly, McDermott, Michael, Tawil, Rabi, Martens, William, Herr, Barbara, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy, Eagle, Michele, Brown, Mary, Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry, Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan, Morandi, Lucia, Butterfield, Russell, Horrocks, Iain, Roper, Helen, Flanigan, Kevin, Kuntz, Nancy, Mah, Jean, Morrison, Leslie, Darras, Basil, von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, Vita, Giuseppe, Barohn, Richard, Finkel, Richard, Wicklund, Matthew, McMillan, Hugh, Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W, Howard, James, Thangarajh, Mathula, Campbell, Craig, Griggs, Robert, Bushby, Kate, Guglieri, Michela, McDonald, Craig

المصدر: Trials. 19(1)

مصطلحات موضوعية: Academic-led clinical trial, Clinical trial, Clinical trial regulations, Duchenne muscular dystrophy, Rare disease, Budgets, Checklist, Clinical Trials as Topic, Contracts, Humans, International Cooperation, Multicenter Studies as Topic, Muscular Dystrophy, Duchenne, Patient Selection, Rare Diseases, Research Design, Research Support as Topic, Steroids, Time Factors, Treatment Outcome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/72m6d42b
https://escholarship.org/content/qt72m6d42b/qt72m6d42b.pdf

المؤلفون: Guglieri, Michela, Bushby, Kate, McDermott, Michael, Hart, Kimberly, Tawil, Rabi, Martens, William, Herr, Barbara, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy, Eagle, Michele, Brown, Mary, Willis, Tracey, Hirtz, Deborah, Shieh, Perry, Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Butterfield, Russell, Horrocks, Iain, Spinty, Stefan, Flanigan, Kevin, Kuntz, Nancy, Baranello, Giovanni, Roper, Helen, Morrison, Leslie, Mah, Jean, Manzur, Adnan, Schara, Ulrike, von der Hagen, Maja, Barohn, Richard, Campbell, Craig, Darras, Basil, Finkel, Richard, Vita, Giuseppe, Hughes, Imelda, Mongini, Tiziana, Pegoraro, Elena, Wicklund, Matthew, Wilichowski, Ekkehard, Bryan Burnette, W, Howard, James, McMillan, Hugh, Thangarajh, Mathula, Griggs, Robert, McDonald, Craig

مصطلحات موضوعية: Deflazacort, Duchenne muscular dystrophy, Prednisolone, Randomized, Standards of care, Child, Child, Preschool, Disability Evaluation, Double-Blind Method, Drug Administration Schedule, Heart Function Tests, Humans, Immunosuppressive Agents, Male, Muscle Strength, Muscular Dystrophy, Duchenne, Patient Satisfaction, Prednisone, Pregnenediones, Range of Motion, Articular, Research Design, Vital Capacity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2hk501c9

المؤلفون: Chhabra, Puneet, Amjad, Muhammad Anas, Ditta, Mohammed-Allah, Roper, Helen, Arora, Deep, Yousif, Mohamed, Sonwalkar, Sunil

المصدر: Indian Journal of Gastroenterology ; ISSN 0254-8860 0975-0711

الاتاحة: http://dx.doi.org/10.1007/s12664-024-01601-6
https://link.springer.com/content/pdf/10.1007/s12664-024-01601-6.pdf
https://link.springer.com/article/10.1007/s12664-024-01601-6/fulltext.html

المؤلفون: Munot, Pinki, McCrea, Nadine, Torelli, Silvia, Manzur, Adnan, Sewry, Caroline, Chambers, Darren, Feng, Lucy, Ala, Pierpaolo, Zaharieva, Irina, Ragge, Nicola, Roper, Helen, Marton, Tamas, Cox, Phil, Milev, Miroslav P., Liang, Wen-Chen, Maruyama, Shinsuke, Nishino Ichizo, Sacher, Michael, Phadke, Rahul, Muntoni, Francesco

وصف الملف: application/pdf

Relation: https://radar.brookes.ac.uk/radar/items/933e870a-025f-4a5a-9985-62a7a44e8162/1/; https://radar.brookes.ac.uk/radar/file/933e870a-025f-4a5a-9985-62a7a44e8162/1/Neuropathology Appl Neurobio - 2021 - Munot - TRAPPC11‐related muscular dystrophy with hypoglycosylation of.pdf

الاتاحة: https://radar.brookes.ac.uk/radar/items/933e870a-025f-4a5a-9985-62a7a44e8162/1/
https://radar.brookes.ac.uk/radar/file/933e870a-025f-4a5a-9985-62a7a44e8162/1/Neuropathology Appl Neurobio - 2021 - Munot - TRAPPC11‐related muscular dystrophy with hypoglycosylation of.pdf

المؤلفون: Balaraju, Sunitha, Töpf, Ana, McMacken, Grace M., Preethish-Kumar, Veeramani, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns

المصدر: European journal of human genetics. - 28, 3 (2020) , 373-377, ISSN: 1476-5438

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/155183

الاتاحة: https://freidok.uni-freiburg.de/data/155183
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-1551837
https://doi.org/10.1038/s41431-019-0506-2
https://freidok.uni-freiburg.de/dnb/download/155183

المؤلفون: Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela

المساهمون: Crow, Rebecca A., Hart, Kimberly A., Mcdermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., Mccoll, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hann, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, Mcdonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, Mcmillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela

مصطلحات موضوعية: Academic-led clinical trial, Clinical trial, Clinical trial regulation, Duchenne muscular dystrophy, Rare disease, Budget, Clinical Trials as Topic, Contract, Human, International Cooperation, Multicenter Studies as Topic, Muscular Dystrophy, Duchenne, Patient Selection, Research Support as Topic, Steroid, Time Factor, Treatment Outcome, Checklist, Research Design, Medicine (miscellaneous), Pharmacology (medical)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/29793540; volume:19; issue:1; firstpage:291; numberofpages:9; journal:TRIALS; http://hdl.handle.net/11577/3294935; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047553551; http://www.trialsjournal.com/home/

الاتاحة: http://hdl.handle.net/11577/3294935
https://doi.org/10.1186/s13063-018-2645-0
http://www.trialsjournal.com/home/

المؤلفون: Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O'Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, McMillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W Bryan, Thangarajh, Mathula, Chang, Taeun

المساهمون: Guglieri, Michela, Bushby, Kate, Mcdermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, Mccoll, Elaine, Speed, Chri, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O'Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, Mcdonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, Mcmillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W Bryan, Thangarajh, Mathula, Chang, Taeun

مصطلحات موضوعية: Child, Preschool, Female, Human, Male, Pregnenedione, Glucocorticoid, Muscular Dystrophy, Duchenne, Prednisone

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35381069; info:eu-repo/semantics/altIdentifier/wos/WOS:000779463300001; volume:327; issue:15; firstpage:1456; lastpage:1468; numberofpages:13; journal:JAMA; http://hdl.handle.net/11577/3443654; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128799842

الاتاحة: http://hdl.handle.net/11577/3443654
https://doi.org/10.1001/jama.2022.4315

المؤلفون: Bourke, John P, Watson, Gillian, Muntoni, Francesco, Spinty, Stefan, Roper, Helen, Guglieri, Michela, Speed, Chris, McColl, Elaine, Chikermane, Ashish, Jayawant, Sandeep, Adwani, Satish, Willis, Tracey, Wilkinson, Jennifer, Bryant, Andrew, Chadwick, Thomas, Wood, Ruth, Bushby, Kate, for the DMD Heart Protection study group

مصطلحات موضوعية: Protocol

وصف الملف: text/html

Relation: http://bmjopen.bmj.com/cgi/content/short/8/12/e022572; http://dx.doi.org/10.1136/bmjopen-2018-022572

الاتاحة: http://bmjopen.bmj.com/cgi/content/short/8/12/e022572
https://doi.org/10.1136/bmjopen-2018-022572

المؤلفون: Crow, Rebecca A, Hart, Kimberly A, McDermott, Michael P, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michele, Brown, Mary W, Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y, Morandi, Lucia, Butterfield, Russell J, Horrocks, Iain, Roper, Helen, Flanigan, Kevin M, Kuntz, Nancy L, Mah, Jean K, Morrison, Leslie, Darras, Basil T, von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M, Vita, Giuseppe, Barohn, Richard J, Finkel, Richard S, Wicklund, Matthew, McMillan, Hugh J, Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W, Howard, James F, Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C, Bushby, Kate, Guglieri, Michela

مصطلحات موضوعية: WE Musculoskeletal. Orthopaedics

وصف الملف: text

Relation: http://www.repository.uhblibrary.co.uk/id/eprint/1669/1/A%20checklist%20for%20clinical%20trials%20in%20rare%20disease.pdf; Crow, Rebecca A, Hart, Kimberly A, McDermott, Michael P, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michele, Brown, Mary W, Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y, Morandi, Lucia, Butterfield, Russell J, Horrocks, Iain, Roper, Helen, Flanigan, Kevin M, Kuntz, Nancy L, Mah, Jean K, Morrison, Leslie, Darras, Basil T, von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M, Vita, Giuseppe, Barohn, Richard J, Finkel, Richard S, Wicklund, Matthew, McMillan, Hugh J, Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W, Howard, James F, Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C, Bushby, Kate and Guglieri, Michela (2018) A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials, 19 (1). p. 291. ISSN 1745-6215. This article is available to all UHB staff and students login using a UHB Athens Account. Register for Athens here - https://openathens.nice.org.uk/

الاتاحة: http://www.repository.uhblibrary.co.uk/id/eprint/1669/
https://trialsjournal.biomedcentral.com/articles?query=A+checklist+for+clinical+trials+in+rare+disease%3A+obstacles+and+anticipatory+actions-lessons+learned+from+the+FOR-DMD+trial.&searchType=journalSearch&tab=keyword
http://www.repository.uhblibrary.co.uk/id/eprint/1669/1/A%20checklist%20for%20clinical%20trials%20in%20rare%20disease.pdf

المؤلفون: Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell'Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan

المصدر: Wiessner , M , Roos , A , Munn , C J , Viswanathan , R , Whyte , T , Cox , D , Schoser , B , Sewry , C , Roper , H , Phadke , R , Marini Bettolo , C , Barresi , R , Charlton , R , Bönnemann , C G , Abath Neto , O , Reed , U C , Zanoteli , E , Araújo Martins Moreno , C , Ertl-Wagner , B , Stucka , R , De Goede , C , Borges da Silva , T , Hathazi ....

مصطلحات موضوعية: cognitive impairment, congenital muscular dystrophy, early cataracts, INPP5K, phosphoinositide phosphatase

الاتاحة: https://research.manchester.ac.uk/en/publications/6e80b183-5fd4-4628-af13-88923a3cda03
https://doi.org/10.1016/j.ajhg.2017.01.024
http://www.scopus.com/inward/record.url?scp=85012866924&partnerID=8YFLogxK

المؤلفون: Hufton, Margaret, Roper, Helen

المساهمون: National Institutes of Health, Summit plc., Roche

المصدر: Developmental Medicine & Child Neurology ; volume 59, issue 8, page 837-842 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.13460
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fdmcn.13460
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.13460

المؤلفون: Ricotti, Valeria, Spinty, Stefan, Roper, Helen, Hughes, Imelda, Tejura, Bina, Robinson, Neil, Layton, Gary, Davies, Kay, Muntoni, Francesco, Tinsley, Jonathon

مصطلحات موضوعية: WE Musculoskeletal. Orthopaedics, WS Paediatrics. Child health

وصف الملف: text

Relation: http://www.repository.uhblibrary.co.uk/id/eprint/1251/1/Safety,%20Tolerability,%20and%20Pharmacokinetics%20of%20SMT%20C1100,%20a%202%20Arylbenzoxazole%20Utrophin%20Modulator,%20following%20Single%20and%20Multiple%20Dose%20Administration%20to%20Pediatric%20Patients%20with%20Duchenne%20Muscular%20Dystrophy.PDF; Ricotti, Valeria, Spinty, Stefan, Roper, Helen, Hughes, Imelda, Tejura, Bina, Robinson, Neil, Layton, Gary, Davies, Kay, Muntoni, Francesco and Tinsley, Jonathon (2016) Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy. PloS one, 11 (4). e0152840. ISSN 1932-6203.

الاتاحة: http://www.repository.uhblibrary.co.uk/id/eprint/1251/
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0152840
http://www.repository.uhblibrary.co.uk/id/eprint/1251/1/Safety,%20Tolerability,%20and%20Pharmacokinetics%20of%20SMT%20C1100,%20a%202%20Arylbenzoxazole%20Utrophin%20Modulator,%20following%20Single%20and%20Multiple%20Dose%20Administration%20to%20Pediatric%20Patients%20with%20Duchenne%20Muscular%20Dystrophy.PDF
https://doi.org/10.1371/journal.pone.0152840

المؤلفون: Essex, Charles, Roper, Helen

المصدر: BMJ: British Medical Journal, 2001 Jul 01. 323(7303), 37-38.

URL الوصول: https://www.jstor.org/stable/25467303

المؤلفون: Nyamugunduru, Godfrey, Roper, Helen

المصدر: BMJ: British Medical Journal, 1997 Jan 01. 314(7073), 62-65.

URL الوصول: https://www.jstor.org/stable/25173339

المؤلفون: Crabtree, N J, Roper, Helen, Shaw, N J

مصطلحات موضوعية: QU Biochemistry, WD250 Metabolic diseases, WK Endocrine system. Endocrinology, WS Paediatrics. Child health

Relation: Crabtree, N J, Roper, Helen and Shaw, N J (2021) Cessation of ambulation results in a dramatic loss of trabecular bone density in boys with Duchenne muscular dystrophy (DMD). Bone. ISSN 1873-2763. (In Press) This article is available to all UHB staff and students login using a UHB Athens Account. Register for Athens here - https://openathens.nice.org.uk/

الاتاحة: http://www.repository.uhblibrary.co.uk/id/eprint/4799/
https://www.sciencedirect.com/science/journal/87563282
https://doi.org/10.1016/j.bone.2021.116248

المؤلفون: Bourke, John P., Watson, Gillian, Spinty, Stefan, Bryant, Andrew, Roper, Helen, Chadwick, Thomas, Wood, Ruth, McColl, Elaine, Bushby, Kate, Muntoni, Francesco, Guglieri, Michela

المصدر: Neurology Clinical Practice ; volume 11, issue 5 ; ISSN 2163-0402 2163-0933

الاتاحة: http://dx.doi.org/10.1212/cpj.0000000000001023
https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000001023

المؤلفون: Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, Griggs, Robert C., Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

المساهمون: National Institutes of Health

المصدر: Neuromuscular Disorders ; volume 31, issue 11, page 1161-1168 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.06.001
https://api.elsevier.com/content/article/PII:S0960896621001553?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621001553?httpAccept=text/plain

المؤلفون: Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, UK10K Consortium, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco

مصطلحات موضوعية: Original Article

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/aws312v1; http://dx.doi.org/10.1093/brain/aws312

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/aws312v1
https://doi.org/10.1093/brain/aws312

المؤلفون: Davidson, Ann E., Siddiqui, Fazeel M., Lopez, Michael A., Lunt, Peter, Carlson, Heather A., Moore, Brian E., Love, Seth, Born, Donald E., Roper, Helen, Majumdar, Anirban, Jayadev, Suman, Underhill, Hunter R., Smith, Corrine O., von der Hagen, Maja, Hubner, Angela, Jardine, Philip, Merrison, Andria, Curtis, Elizabeth, Cullup, Thomas, Jungbluth, Heinz, Cox, Mary O., Winder, Thomas L., Abdel Salam, Hossam, Li, Jun Z., Moore, Steven A., Dowling, James J.

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/136/2/508; http://dx.doi.org/10.1093/brain/aws344

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/136/2/508
https://doi.org/10.1093/brain/aws344