Search Results - "Kho, A.L"

A.P.12 by Whyte, T, Byrne, S, Kho, A.L, Cullup, T, Robb, S, Sewry, C, Bodi, I, Hart, N, Howard, R, Gautel, M, Muntoni, F, Jungbluth, H

“…Autophagy is a fundamental cellular degradative pathway and involves several tightly regulated steps conserved throughout evolution. We have recently…”
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G.P.34 by Chauveau, C, Bönnemann, C.G, Julien, C, Kho, A.L, Marks, H, Talim, B, Maury, P, Uro-Coste, E, Alexandrovich, A, Vihola, A, Foley, A.R, Santi, M, Udd, B, Topaloglu, H, Moore, S.A, Gotthardt, M, Samuels, M.E, Gautel, M, Ferreiro, A

“…Congenital core myopathies (CM) remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. Childhood-onset…”
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C.O.5 Ventricular noncompaction with arthrogryposis due to TTN compound heterozygosity leading to loss of functional TTN kinase domain by Chauveau, C, Bönnemann, C, Alexandrovich, A, Kho, A.L, Julien, C, Foley, R, Vihola, A, Udd, B, Samuels, M.E, Gautel, M, Ferreiro, A

“…Abstract Arthrogryposis is a relatively common disorder characterized by multiple joint contractures with considerable clinical and genetical heterogeneity…”
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A.P.12: A novel, EPG5-related vacuolar myopathy by Whyte, T., Byrne, S., Kho, A.L., Cullup, T., Robb, S., Sewry, C., Bodi, I., Hart, N., Howard, R., Gautel, M., Muntoni, F., Jungbluth, H.

“…Autophagy is a fundamental cellular degradative pathway and involves several tightly regulated steps conserved throughout evolution. We have recently…”
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G.P.34: The expanding spectrum of congenital titinopathies by Chauveau, C., Bönnemann, C.G., Julien, C., Kho, A.L., Marks, H., Talim, B., Maury, P., Uro-Coste, E., Alexandrovich, A., Vihola, A., Foley, A.R., Santi, M., Udd, B., Topaloglu, H., Moore, S.A., Gotthardt, M., Samuels, M.E., Gautel, M., Ferreiro, A.

“…Congenital core myopathies (CM) remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. Childhood-onset…”
Get full text