Kết quả tìm kiếm - I. Mahjneh
- Đang hiển thị 1 - 6 kết quả của 6
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1
A new distal myopathy with mutation in anoctamin 5 Bằng I. Mahjneh, Jyoti K. Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru‐Enari, Rumaisa Bashir
Được phát hành 2010Artigo -
2
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells Bằng 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
Được phát hành 2019Artigo -
3
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies Bằng 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
Được phát hành 2010Artigo -
4
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) Bằng 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
Được phát hành 2000Artigo -
5
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy Bằng 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
Được phát hành 2012Artigo -
6
Hereditary myopathy with early respiratory failure: occurrence in various populations Bằng 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
Được phát hành 2013Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Medicine
Gene
Genetics
Muscular dystrophy
Mutation
Myopathy
Cell biology
Dysferlin
Internal medicine
Pathology
Anatomy
Biopsy
Limb-girdle muscular dystrophy
Missense mutation
Muscle biopsy
Biceps
Biochemistry
Calcium
Calcium metabolism
Calpain
Chaperone (clinical)
Chemistry
Chloride channel
Enzyme
Exome sequencing
Extracellular matrix
Gene isoform
Genotype
Genotyping