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1دورية أكاديمية
المؤلفون: Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006162Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100509- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423005095Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Alistair Ward, Mary A. Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M. Filloux, Betsy Ostrander, Russell Butterfield, Joshua L. Bonkowsky, Willard Dere, Gabor T. Marth
المصدر: Journal of Clinical and Translational Science, Vol 1, Pp 381-386 (2017)
مصطلحات موضوعية: Genome sequencing, disease variant identification, early infantile epileptic encephalopathy, web-based data analysis, clinical diagnostic variant analysis, Medicine
وصف الملف: electronic resource
العلاقة: https://www.cambridge.org/core/product/identifier/S2059866117003119/type/journal_articleTest; https://doaj.org/toc/2059-8661Test
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المؤلفون: Katy Eichinger, Michael McDermott, Kiley Higgs, Michaela Walker, Leann Lewis, William Martens, Doris Leung, Nikia Stinson, Megan M. Holzer, Sabrina Sacconi, Jeremy Garcia, Victor De Paz Benito, Karlien Mul, Valeria Sansone, Elena Carraro, Stefano Becchiati, Maria Chiara Frisoni, Leo Wang, Catherine Kieu, Perry Shieh, Christy Skura, Bakri Elsheikh, Kristina Kelly, Andrea Jaworek, Samantha LoRusso, Russell Butterfield, Amelia Wilson, Melissa McIntyre, Nicholas Johnson, Amanda Butler, Aileen Jones, Melissa Hayes, Lindsay Baker, Sandhya Sasidharan, Alrabi Tawil, Jeffrey Statland
المصدر: Sunday, April 23.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae642eb542c1fb4412adababe6fe5ee8Test
https://doi.org/10.1212/wnl.0000000000203077Test -
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المؤلفون: Michaela Walker, Russell Butterfield, John Day, Katy Eichinger, Bakri Elsheikh, Seth Friedman, Angela Genge, Kiley Higgs, Nicholas Johnson, Peter Jones, Doris Leung, Leann Lewis, Hanns Lochmuller, Erin O'Ferrall, William Martens, Dennis Shaw, Perry Shieh, S Subramony, Jaya Trivedi, Leo Wang, Matthew Wicklund, Alrabi Tawil, Jeffrey Statland
المصدر: Sunday, April 23.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d72198021f79280095c4880366c4e0f9Test
https://doi.org/10.1212/wnl.0000000000203663Test -
6
المؤلفون: Craig M McDonald, Eduardo Marbán, Suzanne Hendrix, Nathaniel Hogan, Rachel Ruckdeschel Smith, Michelle Eagle, Richard S Finkel, Cuixia Tian, Joanne Janas, Matthew M Harmelink, Arun S Varadhachary, Michael D Taylor, Kan N Hor, Oscar H Mayer, Erik K Henricson, Pat Furlong, Deborah D Ascheim, Siegfried Rogy, Paula Williams, Linda Marbán, Russell Butterfield, Anne Connolly, Francesco Muntoni, Nanette C. Joyce, Maya Evans, Mehrdad Abedi, Prasanth Surampudi, Sanjay Jhawar, Jonathan G. Dayan, Colleen Anthonisen, Erica Goude, Alina Nicorici, Omaid Sarwary, Poonam Prasad, Jayoon Baek, Andrew Newton, Hannah Johnson, Kyle Kusmik, Lauri Filar, Angie Edmondson, Irina Rybalsky, Wendy Chouteau, Anthony F. Giordano, Aixa Rodriguez, Kristan Anderson, Germaine Wezel, Melisa Vega, Julie Duke, Jorge Collado, Matthew Civitello, Julie Wells, Erika Pyzik, Rebecca Rehborg, Michelle Brown, Jennifer Van Eyk, Russell G. Rogers
المصدر: The Lancet. 399:1049-1058
مصطلحات موضوعية: Male, Muscular Dystrophy, Duchenne, Treatment Outcome, Double-Blind Method, Cell- and Tissue-Based Therapy, Humans, General Medicine, Cardiomyopathies, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a87185d41d12b7ed0501e09dfd3109fcTest
https://doi.org/10.1016/s0140-6736Test(22)00012-5 -
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المؤلفون: Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki
المساهمون: UCL, Institute of Neurology [London], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), William Harvey Research Institute, Barts and the London Medical School, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Weill Cornell Medicine [New York], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University Hospital Leipzig, University Hospital Düsseldorf, St George’s University Hospitals, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), University College London Hospitals NHS Foundation Trust [London, UK] (UCLH), Centre Hospitalier de Versailles André Mignot (CHV), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Auteur indépendant, University of Pécs Medical School (UP MS), University of Pecs, Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), University of Utah School of Medicine [Salt Lake City], Princess Anne Hospital [Southampton, UK] (PAH), University of Southampton, University Hospital Southampton NHS Foundation Trust, Department of Pathology [Yale], Yale School of Medicine [New Haven, Connecticut] (YSM), H.M., J.V., and H.H. are supported by an Medical Research Council strategic award, MR/S005021/1, to establish International Centre for Genomic Medicine in Neuromuscular Diseases. H.M. is supported by Wellcome Trust grant 220906/Z/20/Z. H.H. is funded by the Medical Research Council (MR/S01165X/1, MR/S005021/1, G0601943), NIHR University College London Hospitals Biomedical Research Centre, Rosetree Trust UK, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK, and Multiple System Atrophy Trust. R.But. is supported by the Penelope Rare and Undiagnosed Disease Program at the University of Utah with funding from the Center for Genomic Medicine and with support from Matt Velinder (Department of Human Genetics, University of Utah) and Rong Mao and Pinar Bayrak-Toydemir (ARUP Laboratories). B.M. is supported by NKFIH K138669. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health and Care Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded the research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. This study makes use of data generated by the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) community. A full list of centers which contributed to the generation of the data is available at https://deciphergenomics.org/about/statsTest and via email from contact@deciphergenomics.org. Funding for the DECIPHER project was provided by Wellcome. We are thankful to the Deciphering Developmental Disorders Study for the invaluable collaboration. The Deciphering Developmental Disorders Study (Cambridge South Research Ethics Committee approval 10/H0305/83 and the Republic of Ireland Research Ethics Committee GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and Department of Health and the Wellcome Trust Sanger Institute (grant number WT098051), MORNET, Dominique, Nottingham University Hospitals NHS Trust (NUH), Weill Cornell Medicine [Cornell University], Cornell University [New York]
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013Testمصطلحات موضوعية: [SDV] Life Sciences [q-bio], Developmental delay, [SDV]Life Sciences [q-bio], Hereditary spastic paraplegia, Genetics (clinical), Hereditary ataxia, SPTAN1, Developmental epileptic encephalopathy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bed7407f3676cdb65ab360030ed566Test
https://hal.science/hal-03840317/documentTest -
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المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong
المساهمون: L, Servais., Çocuk Sağlığı ve Hastalıkları, Schara, Ulrike (Beitragende*r)
المصدر: Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
وصف الملف: application/pdf; Print-Electronic; text/plain; 2 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30Test
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221cTest -
9دورية أكاديمية
المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox David, Hoda Abdel-Hamid, Susan Apkon, Richard Barohn, Elena Belousova, Enrico Bertini, John Brandsema, Claudio Bruno, William Burnette, Russell Butterfield, Barry Byrne, Craig Campbell, Jose Carlo, Jong-Hee Chae, Saleel Chandratre, Giacomo Comi, Anne Connolly, Imelda De Groot, Nicolas Deconinck, Joseph Dooley, Alberto Dubrovsky, Julien Durigneux, Erika Finanger, Richard Finkel, L Matthew Frank, Nathalie Goemans, Amy Harper, Ayako Hattori, Ozlem Herguner, Susan Iannaccone, Joanne Janas, Yuh-Jyh Jong, JanBerd Kirschner, Hirofumi Komaki, Nancy Kuntz, Wang-Tso Lee, Edward Leung, Jean Mah, Katherine Mathews, Craig McDonald, Eugenio Mercuri, Hugh McMillan, Wolfgang Mueller-Felber, Adolfo Lopez de Munain, Akinori Nakamura, Erik Niks, Katsuhisa Ogata, Samuel Pascual, Elena Pegoraro, Yann Pereon, Ben Renfroe, Ratna Bhavaraju Sanka, Jens Schallner, Ulrike Schara, Kathryn Selby, Isabel Illa Sendra, Laurent Servais, Edward Smith, Susan Sparks, Haluk Topaloglu, Ron Victor, Juan Jose Vilchez, Matthew Wicklund, Ekkehard Wilichoswki, Brenda Wong
المساهمون: Ronald G, Victor, H. Lee, Sweeney, Richard, Finkel, Craig M, Mcdonald, Barry, Byrne, Michelle, Eagle, Nathalie, Goeman, Krista, Vandenborne, Alberto L, Dubrovsky, Haluk, Topaloglu, M. Carrie, Miceli, Pat, Furlong, John, Landry, Robert, Elashoff, David, Cox, Abdel-Hamid, Hoda, Apkon, Susan, Barohn, Richard, Belousova, Elena, Bertini, Enrico, Brandsema, John, Bruno, Claudio, Burnette, William, Butterfield, Russell, Byrne, Barry, Campbell, Craig, Carlo, Jose, Chae, Jong-Hee, Chandratre, Saleel, Comi, Giacomo, Connolly, Anne, De Groot, Imelda, Deconinck, Nicola, Dooley, Joseph, Dubrovsky, Alberto, Durigneux, Julien, Finanger, Erika, Finkel, Richard, Matthew Frank, L, Goemans, Nathalie, Harper, Amy, Hattori, Ayako, Herguner, Ozlem, Iannaccone, Susan, Janas, Joanne, Jong, Yuh-Jyh, Kirschner, Janberd, Komaki, Hirofumi, Kuntz, Nancy, Lee, Wang-Tso, Leung, Edward, Mah, Jean, Mathews, Katherine, Mcdonald, Craig, Mercuri, Eugenio, Mcmillan, Hugh, Mueller-Felber, Wolfgang, Lopez de Munain, Adolfo, Nakamura, Akinori, Niks, Erik, Ogata, Katsuhisa, Pascual, Samuel, Pegoraro, Elena, Pereon, Yann, Renfroe, Ben, Bhavaraju Sanka, Ratna, Schallner, Jen, Schara, Ulrike, Selby, Kathryn, Illa Sendra, Isabel, Servais, Laurent, Smith, Edward, Sparks, Susan, Topaloglu, Haluk, Victor, Ron, Jose Vilchez, Juan, Wicklund, Matthew, Wilichoswki, Ekkehard, Wong, Brenda
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28972192; info:eu-repo/semantics/altIdentifier/wos/WOS:000417674200014; volume:89; issue:17; firstpage:1811; lastpage:1820; numberofpages:10; journal:NEUROLOGY; http://hdl.handle.net/11577/3242500Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032229798