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Mroczek, M, Töpf, A, Duff, J, Barresi, R, Hudson, J, England, E, Chao, K, MacArthur, D, Straub, V, consortium, M-S.
P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant?.
Neuromuscular Disorders
29:
s103
2019
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Duff, J, Topf, A, Cox, D, Specht, S, Mroczek, M, England, E, Chao, K, MacArthur, D, Consortium, MM-S, Straub, V.
P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project.
Neuromuscular Disorders
29:
s98 -s99
2019
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Topf, A, Johnson, K, Mroczek, M, Phillips, L, Duff, J, Valkanas, E, England, E, MacArthur, D, Straub, V, consortium, M-S.
E-POSTERS – NEXT GENERATION SEQUENCING EP.96"Double trouble" in a large cohort of patients with unexplained muscle weakness.
Neuromuscular Disorders
29:
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2019
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Topf, A, Casasus, A, Barresi, R, Johnson, K, Mroczek, M, Duff, J, Phillips, L, England, E, Xu, L, Valkanas, E, et al.
P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness.
Neuromuscular Disorders
29:
s99 -s100
2019
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Bryen, SJ, Joshi, H, Evesson, FJ, Girard, C, Ghaoui, R, Waddell, LB, Testa, AC, Cummings, B, Arbuckle, S, Graf, N, et al.
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly..
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