Search Results - "Zimon, M."

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy by Ylikallio, Emil, Pöyhönen, Rosanna, Zimon, Magdalena, De Vriendt, Els, Hilander, Taru, Paetau, Anders, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna

“…Inherited peripheral neuropathies are a heterogeneous group of disorders that can affect patients of all ages. Children with inherited neuropathy often develop…”
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An evaluation of noise reduction algorithms for particle-based fluid simulations in multi-scale applications by Zimoń, M.J., Prosser, R., Emerson, D.R., Borg, M.K., Bray, D.J., Grinberg, L., Reese, J.M.

“…Filtering of particle-based simulation data can lead to reduced computational costs and enable more efficient information transfer in multi-scale modelling…”
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A novel coupling of noise reduction algorithms for particle flow simulations by Zimoń, M.J., Reese, J.M., Emerson, D.R.

“…Proper orthogonal decomposition (POD) and its extension based on time-windows have been shown to greatly improve the effectiveness of recovering smooth…”
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S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE by Colucci, S., Venturi, V., Nicole, F., Jové Solavera, D., Zimon, M., Richter‐Pechanska, P., Hernandez, G., Unal, S., Gumruk, F., Diaz‐Conradi, A., Romero‐Cortadellas, L., Ferrer‐Cortès, X., Olivella, M., Erlacher, M., Niemeyer, C., Wiesel, T., Pepperkok, R., Fleming, M. D., Kulozik, A. E., Sanchez, M., Muckenthaler, M. U.

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4. Neurophysiologic and clinical characteristic of neuromyotonia in new hereditary neuromuscular disorder by Milic Rasic, V, Nikodinovic, J, Mladenovic, J, De Jonghe, P, Jordanova, A, Baets, J, Zimon, M, Keckarevic Markovic, M, Savic Pavicevic, D, Todorovic, S

“…Purpose: To present clinical and neurophysiologic findings in patients with hereditary axonal neuropathies and myotonia. Methods: Conventional ENMG technique…”
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G.P.237 by Peeters, K, Litvinenko, I, Chamova, T, Asselbergh, B, Almeida-Souza, L, Geuens, T, Ydens, E, Zimon, M, Irobi, J, Vriendt, E. De, Winter, V. De, Ooms, T, Timmerman, V, Tournev, I, Jordanova, A

“…Spinal muscular atrophy (SMA) refers to a group of genetic disorders characterized by degeneration of anterior horn cells of the spinal cord. Initially, the…”
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PP09.9 – 2907: Is it easy to recognize HINT1 neuropathy by Rasic, V. Milic, Brankovic, V, Mladenovic, J, Nikodinovic, J, Kosac, A, Baets, J, De Jonghe, P, Jordanova, A, Zimon, M, Markovic, M. Keckarevic, Savic, D. Pavicevic, Todorovic, S

“…Objective Autosomal recessive axonal neuropathy with neuromyotonia and mutation in HINT1 gene form a new disease entity among the myotonic syndromes (Zimon M…”
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes by ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

“…Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT)…”
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High-throughput microscopy profiling of LDLR variants by Graça, R., Zimon, M., Alves, A.C., Pepperkok, R., Bourbon, M.

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Gene-gene interactions at GWAS loci modulate lipid plasma levels and cellular uptake of low-density lipoprotein by Zimon, M., Trasta, A., Huang, Y., Liu, J., Halavatyi, A., Klaus, B., Pepperkok, R., Runz, H.

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Functional Genomics In A Cohort Of Fh Mutation Negative Patients by Rossi, N., Graça, R., Medeiros, A.M., Abrantes, L., Alves, A.C., Zimon, M., Rausch, T., Benes, V., Pepperkok, R., Bourbon, M.

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Improving familial dyslipidaemia diagnosis by Graça, R., Rossi, N., Alves, A.C., Medeiros, A., Zimon, M., Raush, T., Benes, V., Pepperkok, R., Bourbon, M.

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The importance to track variants in a genes causing recessive disorders within the family: A FH/Sitosterolemia clinical case by Graça, R., Abrantes, L., Rossi, N., Alves, A., Medeiros, A., Zimon, M., Rausch, T., Benes, V., Pepperkok, R., Bourbon, M.

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Genetic spectrum of hereditary neuropathies with onset in the first year of life by Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimo, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzi ska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter

“…Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct…”
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G.P.237: Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patients by Peeters, K., Litvinenko, I., Chamova, T., Asselbergh, B., Almeida-Souza, L., Geuens, T., Ydens, E., Zimon, M., Irobi, J., Vriendt, E. De, Winter, V. De, Ooms, T., Timmerman, V., Tournev, I., Jordanova, A.

“…Spinal muscular atrophy (SMA) refers to a group of genetic disorders characterized by degeneration of anterior horn cells of the spinal cord. Initially, the…”
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