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Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R et al (show 28 more authors) , Bettolo, CM, Barresi, R, Charlton, R, Boennemann, CG, Neto, OA, Reed, UC, Zanoteli, E, Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges Da Silva, T ORCID: 0000-0002-4563-0810, Hathazi, D, Dell'Aica, M, Zahedi, RP, Thiele, S, Mueller, J, Kingston, H, Mueller, S, Curtis, E, Walter, MC, Strom, T, Straub, V, Bushby, K, Muntoni, F, Swan, LE ORCID: 0000-0002-6312-6263, Lochmueller, H and Senderek, J (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, 100 (3). pp. 523-536.

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Walmsley, GL, Blot, S, Venner, K, Sewry, C, Laporte, J, Blondelle, J, Barthelemy, I, Maurer, M, Blanchard-Gutton, N, Pilot-Storck, F et al (show 2 more authors) , Tiret, L and Piercy, RJ (2017) Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. American Journal of Pathology, 187 (2). pp. 441-456.