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P297 Validation of a blood-based assay for dysferlinopathy in a Latin American cohort

Autor: Barresi, R., Töpf, A., Gonzalez-Chamorro, A., Diaz-Manera, J., Emmons, S., Rufibach, L.

Publikováno v: In Neuromuscular Disorders October 2023 33 Supplement 1:S117-S117

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Autor: Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A.

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c387aaa6386176223215e1a8301fe0
https://pubmed.ncbi.nlm.nih.gov/30257713

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