Mutations and polymorphisms in the human methyl CpG‐binding protein MECP2 by Miltenberger‐Miltenyi, Gabriel, Laccone, Franco

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Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease by Costa, M.R., Gromicho, M., Pronto-Laborinho, A.C., Miltenberger Miltényi, G., de Carvalho, M.

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KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance by Dijkstra, J. R., Heideman, D. A. M., Meijer, G. A., Boers, J. E., ‘t Hart, N. A., Diebold, J., Hirschmann, A., Hoefler, G., Winter, G., Miltenberger-Miltenyi, G., Pereira, S. V., Richman, S. D., Quirke, P., Rouleau, E. L., Guinebretiere, J. M., Tejpar, S., Biesmans, B., van Krieken, J. H. J. M.

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Mutation spectrum of type I glycogen storage disease in Hungary by Miltenberger‐Miltenyi, G., Szonyi, L., Balogh, L., Utermann, G., Janecke, A. R.

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Remodeling of resistance arteries in renal failure : Effect of endothelin receptor blockade by AMANN, Kerstin, MILTENBERGER-MILTENYI, Gabriel, SIMONOVICIENE, Aurelia, KOCH, Andreas, ORTH, Stephan, RITZ, Eberhard

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P6579Genetic profile and predictors of positive genetic test in Brugada syndrome by Faria, B, Ribeiro, S, Calvo, L, Miltenberger-Miltenyi, G, Oliveira, M, Hafe, P, Dias, G, Cardoso, F, Sanfins, V, Lourenco, A

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Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes by Andreasson, Adam, Sulaiman, Luqman, do Vale, Sónia, Martins, João Martin, Ferreira, Florbela, Miltenberger-Miltenyi, Gabriel, Batista, Lucas, Haglund, Felix, Björck, Erik, Nilsson, Inga-Lena, Höög, Anders, Larsson, Catharina, Juhlin, C. Christofer

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration by van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine

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Capillary/myocyte mismatch in the heart in renal failure—a role for erythropoietin? by Amann, Kerstin, Buzello, Moriz, Simonaviciene, Aurelia, Miltenberger‐Miltenyi, Gabriel, Koch, Andreas, Nabokov, Alexander, Gross, Marie‐Luise, Gless, Bernhard, Mall, Gerhard, Ritz, Eberhard

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Diabetes--renal function--what are the special problems? by Ritz, E, Miltenberger-Miltenyi, G, Wagner, J, Rychlik, I

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Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31 by Rindermann, Matthias, Grünig, Ekkehard, von Hippel, Albrecht, Koehler, Rolf, Miltenberger-Miltenyi, Gabriel, Mereles, Derliz, Arnold, Karlin, Pauciulo, Michael, Nichols, William, Olschewski, Horst, Hoeper, Marius M, Winkler, Jörg, Katus, Hugo A, Kübler, Wolfgang, Bartram, Claus R, Janssen, Bart

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The drama of the continuous increase in end-stage renal failure in patients with type II diabetes mellitus by RYCHLIK, I, MILTENBERGER-MILTENYI, G, RITZ, E

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TBK1 loss-of function and dominant-negative mutations in an extended European cohort of FTD and ALS patients by van der Zee, J, Gijselinck, I, Van Mossevelde, S, Perrone, F, Engelborghs, S, De Bleecker, J, Baets, J, Gelpi, E, Rojas-Garcia, R, Clarimon, J, Lleo, A, Diehl-Schmid, J, Alexopoulos, P, Perneczky, R, Synofzik, M, Just, J, Schols, L, Graff, C, Thonberg, H, Borroni, B, Padovani, A, Jordanova, A, Sarafov, S, Tournev, I, de Mendonca, A, Miltenberger-Miltenyi, G, do Couto, FS, Ramirez, A, Jessen, F, Heneka, MT, Gomez-Tortosa, E, Danek, A, Cras, P, Vandenberghe, R, De Jonghe, P, De Deyn, PP, Sleegers, K, Cruts, M, Van Broeckhoven, C

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Endstage renal failure in diabetes type II - a silent epidemic by RITZ, Eberhard, MILTENBERGER-MILTENGER-MILTENYI, Gabriel, RYCHLIK, Ivan, FLISER, Danilo

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The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public by van der Spek, Rick A.A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., van den Berg, Leonard H., Veldink, Jan H.

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Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease by Costa, M R, Gromicho, M, Pronto-Laborinho, A C, Miltenberger Miltényi, G, de Carvalho, M

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Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study by Premi, Enrico, Grassi, Mario, van Swieten, John, Galimberti, Daniela, Graff, Caroline, Masellis, Mario, Tartaglia, Carmela, Tagliavini, Fabrizio, Rowe, James B, Laforce, Jr, Robert, Finger, Elizabeth, Frisoni, Giovanni B, de Mendonça, Alexandre, Sorbi, Sandro, Gazzina, Stefano, Cosseddu, Maura, Archetti, Silvana, Gasparotti, Roberto, Manes, Marta, Alberici, Antonella, Cardoso, Manuel J, Bocchetta, Martina, Cash, David M, Ourselin, Sebastian, Padovani, Alessandro, Rohrer, Jonathan D, Borroni, Barbara

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