Search Results - "Lobrinus, J.A."

Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci by Jeannet, P.Y, Mittaz, L, Dunand, M, Lobrinus, J.A, Bonafe, L, Kuntzer, T

“…Abstract We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia…”
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G.P.5.08 Myofibrillar myopathies: The Lausanne experience with DES mutations in 11 patients by Dunand, M, Lobrinus, J.A, Thonney, F, Jeanrenaud, X, Selcen, D, Rudnik-Schöneborn, S, Burgunder, J.M, Kuntzer, T

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Different degrees of ischaemic injury in the right and left ventricle in cases of severe, nonfatal, pulmonary embolism by Fracasso, T., Schrag, B., Sabatasso, S., Lobrinus, J.A., Schmeling, A., Mangin, P.

“…Pulmonary fat embolism (PFE) is a common complication of blunt force traumas with bone fractures. Severe forms cause impedance to right ventricular (RV)…”
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Transplanted Human Pancreatic Islets After Long‐Term Insulin Independence by Muller, Y. D., Gupta, S., Morel, P., Borot, S., Bettens, F., Truchetet, M. E., Villard, J., Seebach, J. D., Holmberg, D., Toso, C., Lobrinus, J. A., Bosco, D., Berney, T.

“…Long‐term insulin independence after islets of Langerhans transplantation is rarely achieved. The aims of this study were to identify the histological and…”
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Creutzfeldt-Jakob disease revealed by a logopenic variant of primary progressive aphasia by Martory, M D, Roth, S, Lövblad, K O, Neumann, M, Lobrinus, J A, Assal, F

“…Logopenic aphasia, mainly characterized by word anomia, sentence and phrase comprehension difficulties secondary to phonological loop deficits but relatively…”
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Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease) by Lobrinus, J.A., Schorderet, D.F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.-Y.

“…A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers. One…”
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36 Fatal Epstein-Barr virus meningoencephalitis in a heart transplant recipient by Garzoni, C., Perrig, S., Lobrinus, J.A., Schnetzler, B., Van Delden, C.

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Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration by Lobrinus, J.A, Janzer, R.C, Kuntzer, T, Matthieu, J.-M, Pfend, G, Goy, J.-J, Bogousslavsky, J

“…Desminopathies form a heterogeneous group of myopathies characterised by pathological aggregations of desmin. We report a family, where mother and daughter…”
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Induction of the blood-brain barrier specific HT7 and neurothelin epitopes in endothelial cells of the chick chorioallantoic vessels by a soluble factor derived from astrocytes by Lobrinus, J A, Juillerat-Jeanneret, L, Darekar, P, Schlosshauer, B, Janzer, R C

“…Some blood-brain barrier properties of microvascular endothelial cells have been shown to be inducible by astrocytes. We tested the hypothesis that this…”
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