Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hugh McMillan"'
Autor:
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natur
Externí odkaz:
https://doaj.org/article/0ef9cd25f9a44b1b9fee6b56324a1d81
Autor:
Hugh McMillan J, Sarah Grace Buttle, Jorge Davila, Julia Bokhaut, Tom Kovesi, Sherri Katz, Refika Ersu
VACTERL association is linked to multiple congenital anomalies including tracheoesophageal fistula. In rare cases, VACTERL has been complicated by other airway malformations including severe bronchial stenosis or unilateral pulmonary agenesis. We rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab26dfa71aaadb1b6fa90ea1819580a1
https://doi.org/10.22541/au.168017414.46633155/v1
https://doi.org/10.22541/au.168017414.46633155/v1
Autor:
Anna Liu, Melissa Duffy, Sandy Tse, Marc Zucker, Hugh McMillan, Patrick Weldon, Julie Quet, Michelle Long
Simulation-based medical education (SBME) is widely used to teach bedside procedural skills. Feedback is crucial to SBME but research on optimal timing to support novice learners’ skill development has produced conflicting results. We randomly assi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f3bd0f1c411dd5840f6a412606fd4
Autor:
Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba
Publikováno v:
Neuromuscular Disorders. 31:574-582
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee
Autor:
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
Publikováno v:
Science advances, 8(33):eabo7112. American Association for the Advancement of Science
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6ee0a0b2e7c1dd27774edf6d5fa7b9
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html
Autor:
Megan Barry, Dwight Barry, Akash P. Kansagra, Danial Hallam, Michael Abraham, Catherine Amlie-Lefond, Timothy Bernard, Noma Dlaimini, Michael Dowling, Ryan Felling, Eric Grabowski, Rebecca Ichord, Lori Jordan, Adam Kirton, Sarah Lee, Mark Mackay, Hugh McMillan, Michael J. Rivkin
Publikováno v:
Stroke. 52:1213-1221
Background and Purpose: Because children often have lifelong morbidity after stroke, there is considerable enthusiasm to pursue mechanical thrombectomy in childhood stroke based on literature reports. However, current published data may reflect incon
Autor:
Hugh McMillan
McMillan's Galloway, a witty and irreverent look at contemporary Dumfries and Galloway, provides a suitably individualistic snapshot of a place which operated for so long as an independent entity completely separate from its neighbours, Scotland and
Autor:
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
Publikováno v:
Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17
To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD).
info:eu-repo/semantics/published
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221c
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221c
Autor:
Leanne M. Ward, Kathi Kinnett, Lynda Bonewald, Jonathan D. Adachi, Laura Bachrach, Teresita Bellido, Marco Brotto, Joanne Donovan, Eric Hoffman, Mary Leonard, Hugh McMillan, Susan Novotny, Jill Rafael-Fortney, Frank Rauch, Leanne Ward, Stuart Warden
Publikováno v:
Neuromuscular Disorders. 28:64-76
Autor:
Hugh McMillan
Hugh McMillan's first collection in Scots, Whit if? poses the questions that you never thought to ask about Scottish history like'Whit if Alexander haed Twitter?','Whit if John Knox haed fawen in luve wi Mary Queen o Scots?'and'Whit if Jacques Brel h