Výsledky vyhledávání - Adnan Y. Manzur

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  1. 1
    Diagnosis and new treatments in muscular dystrophies

    Diagnosis and new treatments in muscular dystrophies Autor Adnan Y. Manzur, Francesco Muntoni

    Vydáno 2009
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  2. 2
    Corticosteroids for the treatment of Duchenne muscular dystrophy

    Corticosteroids for the treatment of Duchenne muscular dystrophy Autor Emma Matthews, Ruth Brassington, Thierry Küntzer, Fatima Jichi, Adnan Y. Manzur

    Vydáno 2016
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  3. 3
    The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

    The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials Autor Valeria Ricotti, Deborah Ridout, Marika Pane, Marion Main, Anna Mayhew, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni

    Vydáno 2015
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  4. 4
    Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

    Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy Autor Alberto A. Zambon, Vandana Ayyar Gupta, Deborah Ridout, Adnan Y. Manzur, Giovanni Baranello, Federica Trucco, Francesco Muntoni

    Vydáno 2022
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  5. 5
    Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

    Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy Autor Francesco Muntoni, Joana Domingos, Adnan Y. Manzur, Anna Mayhew, Michela Guglieri, Gautam Sajeev, James Signorovitch, Susan J. Ward

    Vydáno 2019
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  6. 6
    Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

    Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations Autor Georgina Burke, A. Hiscock, Andrea Klein, Erik H. Niks, Marion Main, Adnan Y. Manzur, Joanne Ng, C. De Vile, Francesco Muntoni, David Beeson, S. Robb

    Vydáno 2012
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  7. 7
    Congenital myopathies

    Congenital myopathies Autor Irene Colombo, Mariacristina Scoto, Adnan Y. Manzur, S. Robb, Lorenzo Maggi, Vasantha Gowda, Thomas Cullup, Michael Yau, Rahul Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    Vydáno 2014
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  8. 8
    Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

    Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging Autor Lara M. Leijser, Linda S. de Vries, Mary Rutherford, Adnan Y. Manzur, Floris Groenendaal, Tom J. de Koning, Marja van der Heide-Jalving, Frances M. Cowan

    Vydáno 2007
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  9. 9
    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing Autor Mariacristina Scoto, Thomas Cullup, Sebahattin Çirak, Shu Yau, Adnan Y. Manzur, Lucy Feng, Thomas S. Jacques, Glenn Anderson, Stephen Abbs, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    Vydáno 2013
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  10. 10
    RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

    RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling Autor Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline A. Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael R. Duchen, Heinz Jungbluth, Susan Treves, Francesco Muntoni

    Vydáno 2013
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  11. 11
    PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

    PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease Autor Marjorie Illingworth, Esther Meyer, W.K. Chong, Adnan Y. Manzur, Lucinda Carr, R. T. Younis, C Hardy, Fiona McDonald, Anne Marie Childs, Bruce H. Stewart, Daniel Warren, Rachel Kneen, Marissa King, Susan J. Hayflick, Manju A. Kurian

    Vydáno 2014
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  12. 12
    Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy

    Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy Autor Vandana Ayyar Gupta, Jacqueline Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena Mazzone, Valeria Ricotti, Jean‐Yves Hogrel, Erik H. Niks, Imelda J. M. de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni

    Vydáno 2023
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  13. 13
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome Autor Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Vydáno 2017
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  14. 14
    <i>DMD</i> Genotypes and Motor Function in Duchenne Muscular Dystrophy

    <i>DMD</i> Genotypes and Motor Function in Duchenne Muscular Dystrophy Autor Francesco Muntoni, James Signorovitch, Gautam Sajeev, H. Clifford Lane, Madeline Jenkins, Ibrahima Dieye, Susan J. Ward, Craig M. McDonald, Nathalie Goemans, Erik H. Niks, Brenda Wong, Laurent Servais, Volker Straub, Michela Guglieri, Imelda J. M. de Groot, Mary Chesshyre, Cuixia Tian, Adnan Y. Manzur, Eugenio Mercuri, Annemieke Aartsma‐Rus

    Vydáno 2023
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  15. 15
    <i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei

    <i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei Autor Jo M. Wilmshurst, Suzanne Lillis, Haiyan Zhou, Komala Pillay, Heather Henderson, Wolfram Kreß, C. R. Müller, Alvin Ndondo, V. Cloke, Thomas Cullup, Enrico Bertini, C. Boennemann, Volker Straub, Rosaline C. M. Quinlivan, James J. Dowling, Safa Al Sarraj, Susan Treves, Stephen Abbs, Adnan Y. Manzur, Caroline A. Sewry, Francesco Muntoni, Heinz Jungbluth

    Vydáno 2010
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  16. 16
    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies Autor R. Scalco, A. Gardiner, Robert D. S. Pitceathly, David Hilton‐Jones, Anthony H.V. Schapira, Chris Turner, Matt Parton, M. Desikan, Rita Barresi, Julie Marsh, Adnan Y. Manzur, Anne‐Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J. Lamont, Gianina Ravenscroft, William Wallefeld, Mark R. Davis, Nigel G. Laing, Janice L. Holton, Doreen Fialho, Kate Bushby, Michael G. Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Rosaline C. M. Quinlivan

    Vydáno 2016
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  17. 17
    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease Autor Eloisa Carta, Seo‐Kyung Chung, Victoria M. James, Angela K. Robinson, Jennifer Gill, Nathalie Rémy, Jean-François Vanbellinghen, Cheney Drew, S. Cagdas, Duncan Cameron, Frances M. Cowan, Mireria Del Toro, Gail E. Graham, Adnan Y. Manzur, Amira Masri, Serge Rivera, Emmanuel Scalais, Rita Shiang, Kate Sinclair, Catriona A. Stuart, Marina A.J. Tijssen, Grahame Wise, Sameer M. Zuberi, Kirsten Harvey, Brian R. Pearce, Maya Topf, Rhys H. Thomas, Stéphane Supplisson, Mark I. Rees, Victoria L. Harvey

    Vydáno 2012
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  18. 18
    Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy

    Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy Autor Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Çırak, Mattia Calissano, S. Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, I Hadjikoumi, Andrea Klein, Michele Yang, Marjolein Visser, W. C. G. Overweg‐Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad Al‐Lozi, John Nixon, Christian de Goede, A. Reghan Foley, Catherine McWilliam, Matthew Pitt, Caroline A. Sewry, Rahul Phadke, Majid Hafezparast, W.K. Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

    Vydáno 2015
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  19. 19
    Retrospective natural history of thymidine kinase 2 deficiency

    Retrospective natural history of thymidine kinase 2 deficiency Autor Caterina Garone, Robert W. Taylor, A. Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez‐González, Julie Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M.I. Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez‐Gómez, Sandeep Jayawant, Neil D Thomas, Adnan Y. Manzur, Karin Kleinsteuber, Miguel A. Martı́n, Timothy Kerr, Gráinne S. Gorman, Ewen W. Sommerville, Patrick F. Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga‐Garrido, Jana Domínguez‐Carral, C. Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua Kriger, Robert Schoenaker, Bruce Lubotsky Levin, John L.P. Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

    Vydáno 2018
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  20. 20
    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy Autor Michela Guglieri, Kate Bushby, Michael P. McDermott, P. Morehart, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy King, M. Eagle, Mary W. Brown, Tracey Willis, Deborah Hirtz, Perry B. Shieh, Volker Straub, Anne‐Marie Childs, Emma Ciafaloni, Russell J. Butterfield, Iain Horrocks, Stefan Spinty, Kevin M. Flanigan, Nancy L. Kuntz, Giovanni Baranello, Helen Roper, Leslie Morrison, Jean K. Mah, Adnan Y. Manzur, Craig M. McDonald, Ulrike Schara, Maja von der Hagen, Richard J. Barohn, Craig Campbell, Basil T. Darras, Richard S. Finkel, Giuseppe Vita, Imelda Hughes, Tiziana Mongini, Elena Pegoraro, Matthew Wicklund, Ekkehard Wilichowski, W. Bryan Burnette, James F. Howard, Hugh J. McMillan, Mathula Thangarajh, Robert C. Griggs

    Vydáno 2017
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