Resultats de la cerca - I. Mahjneh

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  1. 1
    A new distal myopathy with mutation in anoctamin 5

    A new distal myopathy with mutation in anoctamin 5 per I. Mahjneh, Jyoti K. Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru‐Enari, Rumaisa Bashir

    Publicat 2010
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  2. 2
    Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

    Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells per Goutam Chandra, Aurélia Defour, Kamel Mamchoui, Kalpana Pandey, Soumya Ranjan Mishra, Vincent Mouly, SenChandra Sreetama, Mohammad Mahad Ahmad, I. Mahjneh, Hiroki Morizono, Nagarajan Pattabiraman, Anant K. Menon, Jyoti K. Jaiswal

    Publicat 2019
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  3. 3
    Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

    Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies per Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, J. Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, I. Mahjneh, Marjolein Visser, Rumaisa Bashir, Bernard Brais

    Publicat 2010
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  4. 4
    Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

    Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) per Louise V.B. Anderson, Ruth M Harrison, Robert Pogue, Elizabeth Vafiadaki, C. Pollitt, Keith Davison, Jennifer A. Moss, Sharon Keers, Angela Pyle, Pamela J. Shaw, I. Mahjneh, Zohar Argov, Cheryl R. Greenberg, Klaus Wrogemann, Tulio E. Bertorini, Hans H. Goebel, J. Beckmann, Rumaisa Bashir, Kate Bushby

    Publicat 2000
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  5. 5
    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy per J. Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, H. Luque, Mark Screen, Kristin McDonald Gibson, Jeffrey M. Stajich, I. Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttilä, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael A. Hauser, Nicholas Katsanis, Bjarne Udd

    Publicat 2012
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  6. 6
    Hereditary myopathy with early respiratory failure: occurrence in various populations

    Hereditary myopathy with early respiratory failure: occurrence in various populations per Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Björn Brådvik, B. Eymard, Andoni Echaniz‐Laguna, Jocelyn Laporte, Mikko Kärppä, I. Mahjneh, Rosaline C. M. Quinlivan, Pascal Laforêt, Maxwell S. Damian, Andrés Berardo, A.L. Taratuto, J. A. Bueri, Johanna Tommiska, Taneli Raivio, Melanie J. Tuerk, Philipp Gölitz, Frédéric Chevessier, Caroline A. Sewry, F. Norwood, Carola Hedberg, Rolf Schröder, Lars Edström, Anders Oldfors, Peter Hackman, Bjarne Udd

    Publicat 2013
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