Search Results - "DE LOCHT, M"

FP.02 Mutation in KBTBD13 causes stiffening of thin filaments in skeletal muscle by Conijn, S., Galli, R., van de Locht, M., Ma, W., Irving, T., de Winter, J., Ottenheijm, C.

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P404 Deep phenotyping and characterization of a patient with a novel autosomal dominant TNNI1-related hypercontractile muscle disease by Bach, R Or, Bulea, T., Donkervoort, S., Foley, A., van de Locht, M., McLean, C., de Winter, J., Conijn, S., Gravunder, A., Hu, Y., DeLong, T., Laing, N., Davis, M., McModie, S., Ravenscroft, G., Ottenheijm, C., Bönnemann, C.

“…The troponin complex regulates Ca2+ sensitivity of the myofibrillar contractile apparatus in striated muscles. This complex is comprised of three associated…”
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Mucormycosis during deferoxamine therapy is a siderophore-mediated infection : in vitro and in vivo animal studies by BOELAERT, J. R, DE LOCHT, M, VAN CUTSEM, J, KERRELS, V, CANTINIEAUX, B, VERDONCK, A, VAN LANDUYT, H. W, SCHNEIDER, Y.-J

“…This study investigates the pathophysiology of mucormycosis caused by Rhizopus, which has been reported in 46 dialysis patients, while treated with…”
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EP.126Congenital fiber type disproportion related to novel autosomal dominant mutation in TNNT1 by Fattori, F., D'Amico, A., Verardo, M., Bellacchio, E., Brizzi, T., Fiumara, A., Rodolico, C., van de Locht, M., Ottenheijm, C., Bertini, E.

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P.108Recessive MYH7-related myopathy in two families by Beecroft, S., van de Locht, M., de Winter, J., Ottenheijm, C., Sewry, C., Mohammed, S., Ryan, M., Woodcock, I., Sanders, L., Gooding, R., Davis, M., Oates, E., Laing, N., Ravenscroft, G., McLean, C., Jungbluth, H.

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P.163Mutations in fast skeletal troponin C (TNNC2) cause contractile dysfunction by van de Locht, M., de Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A., Pinto, J., Voermans, N., Bönnemann, C., Ottenheijm, C.

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CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.41Dominant TNNC2 mutations cause a distinct congenital myopathy with vocal cord paralysis, ophthalmoplegia and clinical improvement over time by Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

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NEW GENES, FUNCTIONS AND BIOMARKERS by van de Locht, M., Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A.R., Voermans, N., Bönnemann, C., Ottenheijm, C.

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NEW GENES, FUNCTIONS AND BIOMARKERS: O.2Mutations in fast skeletal troponin C (TNNC2) cause contractile dysfunction by van de Locht, M., Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A.R., Voermans, N., Bönnemann, C., Ottenheijm, C.

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CONGENITAL MYOPATHIES: GENERAL AND RYR1 by Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

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P.162Novel Kbtbd13R408C-knockin mouse model phenocopies NEM6 myopathy by de Winter, J., Yuen, M., Van der Pijl, R., Li, F., Shengyi, S., Conijn, S., Van de Locht, M., Bogaards, S., van Kleef, E., Bryson-Richardson, R., Campbell, K., Ma, W., Irving, T., Malfatti, E., Granzier, H., van Engelen, B., Voermans, N., Ottenheijm, C.

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The Effect of Deferoxamine on Different Zygomycetes by Boelaert, Johan R., de Locht, Marielle, Schneider, Yves-Jacques

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Side-effects of desferrioxamine in dialysis patients by Boelaert, J R, de Locht, M

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Deferoxamine augments growth and pathogenicity of Rhizopus, while hydroxypyridinone chelators have no effect by Boelaert, Johan R., Van Cutsem, Jan, de Locht, Marielle, Schneider, Yves-Jacques, Crichton, Robert R.

“…Deferoxamine augments growth and pathogenicity of Rhizopus, while hydroxypyridinone chelators have no effect. Deferoxamine (DFO), when used in dialysis…”
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Iron uptake from ferrioxamine and from ferrirhizoferrin by germinating spores of Rhizopus microsporus by de Locht, M, Boelaert, J R, Schneider, Y J

“…Mucormycosis caused by the fungus Rhizopus has been documented in iron overloaded patients and more particularly in dialysis patients, both when treated with…”
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