Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008

Autor: Hilton-Jones, D., Miller, A., Parton, M., Holton, J., Sewry, C., Hanna, M.G.

Publikováno v: In Neuromuscular Disorders 2010 20(2):142-147

Myopathology in congenital myopathies.

Autor: Sewry, C. A.^1,2, Wallgren-Pettersson, C.³

Publikováno v: Neuropathology & Applied Neurobiology. Feb2017, Vol. 43 Issue 1, p5-23. 19p.

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Autor: Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R, 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, 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, Lochmueller, H, Senderek, J

Publikováno v: Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, C G, Abath Neto, O, Reed, U C, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, R P, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, M C, Strom, T M, Straub, V, Bushby, K, Muntoni, F, Swan, L E, Lochmüller, H & 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, vol. 100, no. 3, pp. 523-536 . https://doi.org/10.1016/j.ajhg.2017.01.024
American Journal of Human Genetics

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0682e787e901e932f48d2c10fd006e05

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Autor: Clare Logan, Cossins J, Pm, Rodríguez Cruz, Da, Parry, Maxwell S, Martínez-Martínez P, Riepsaame J, Za, Abdelhamed, Av, Lake, Moran M, Robb S, Chow G, Sewry C, Pm, Hopkins, Sheridan E, Jayawant S, Palace J, Ca, Johnson, Beeson D

Publikováno v: Logan, C V, Cossins, J, Rodríguez Cruz, P M, Parry, D A, Maxwell, S, Martínez-Martínez, P, Riepsaame, J, Abdelhamed, Z A, Lake, A V R, Moran, M, Robb, S, Chow, G, Sewry, C, Hopkins, P M, Sheridan, E, Jayawant, S, Palace, J, Johnson, C A & Beeson, D 2015, ' Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain ', American Journal of Human Genetics, vol. 97, no. 6, pp. 878-885 . https://doi.org/10.1016/j.ajhg.2015.10.017
Europe PubMed Central
American Journal of Human Genetics, 97(6), 878-85. Cell Press

The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for effici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6a3cebcaf6961d1c452f6492c563ca36

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