Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision von Biesalski, Anne-Sophie, Hoffjan, Sabine, Schneider, Ruth, Nguyen, Huu Phuc, Dekomien, Gabriele, Lücke, Thomas, Schneider-Gold, Christiane, Matusche, Britta, Gold, Ralf, Ayzenberg, Ilya

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Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature von Dusanic, Maja, Dekomien, Gabriele, Lücke, Thomas, Vorgerd, Matthias, Weis, Joachim, Epplen, Joerg T., Köhler, Cornelia, Hoffjan, Sabine

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SOX9 duplication linked to intersex in deer von Kropatsch, Regina, Dekomien, Gabriele, Akkad, Denis A, Gerding, Wanda M, Petrasch-Parwez, Elisabeth, Young, Neil D, Altmüller, Janine, Nürnberg, Peter, Gasser, Robin B, Epplen, Jörg T

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Ccdc66 null mutation causes retinal degeneration and dysfunction von GERDING, Wanda M, SCHREIBER, Sabrina, RÜLICKE, Thomas, IBRAHIM, Saleh, EPPLEN, Jörg T, PETRASCH-PARWEZ, Elisabeth, SCHULTE-MIDDELMANN, Tobias, DE CASTRO MARQUES, Andreia, ATORF, Jenny, AKKAD, Denis A, DEKOMIEN, Gabriele, KREMERS, Jan, DERMIETZEL, Rolf, GAL, Andreas

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FMR1 Alleles in Parkinson's Disease: Relation to Cognitive Decline and Hallucinations, A Longitudinal Study von Kurz, Martin Wilhelm, Melissa Schlitter, Anna, Klenk, Yvonne, Mueller, Thomas, Larsen, Jan Petter, Aarsland, Dag, Dekomien, Gabriele

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Making sense of missense variants in TTN-related congenital myopathies von Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias

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Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia von Schubert, Sarah F., Hoffjan, Sabine, Dekomien, Gabriele

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Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening von Handt, Maximilian, Epplen, Andrea, Hoffjan, Sabine, Mese, Kemal, Epplen, Jörg T., Dekomien, Gabriele

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Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families von Kastner, Simone, Thiemann, Ina-Janine, Dekomien, Gabriele, Petrasch-Parwez, Elisabeth, Schreiber, Sabrina, Akkad, Denis A, Gerding, Wanda M, Hoffjan, Sabine, Günes, Sezgin, Günes, Selçuk, Bagci, Hasan, Epplen, Jörg T

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Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation von Tschentscher, Anne, Dekomien, Gabriele, Ross, Sophia, Cremer, Kirsten, Kukuk, Guido M, Epplen, Jörg T, Hoffjan, Sabine

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High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency von Beytía, Maria de los Angeles, Dekomien, Gabriele, Hoffjan, Sabine, Haug, Verena, Anastasopoulos, Constantin, Kirschner, Janbernd

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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy von Alonso-Perez, Jorge, Gonzalez-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andres, Ortez, Carlos, Comi, Giacomo Pietro, ten Dam, Leroy, De Visser, Marianne, van der Kooi, A.J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuss, Andrea, Lokken, Nicoline, Storgaard, Glesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonsolimenez, Alicia, Claeys, Kristl G, Gomez-Andres, David, Munell, Francina, Costa-Comellas, Laura, Haberlova, Jana, Rohlenova, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-Gonzalez, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernandez-Torron, Roberto, de Munain, Adolfo Lopez, Camacho-Salas, Ana, Melegh, Bela, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, De Leon-Hernandez, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Diaz-Manera, Jordi

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Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients von Türk, Matthias, Schröder, Rolf, Khuller, Katharina, Hofmann, Andreas, Berwanger, Carolin, Ludolph, Albert C, Dekomien, Gabriele, Müller, Kathrin, Weishaupt, Jochen H, Thiel, Christian T, Clemen, Christoph S

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Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression: Letters to the Editor von Schröder, Nicolas W.J., Grieben, Ulrike, Prokop, Stefan, Dekomien, Gabriele, Epplen, Jörg T., Heppner, Frank. L., Goebel, Hans H., Stenzel, Werner

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Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs von Dekomien, G. ((Ruhr University, Bochum (Allemagne). Human Genetics)), Epplen, J.T

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Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? von Klinge, Lars, Dekomien, Gabriele, Aboumousa, Ahmed, Charlton, Richard, Epplen, Jörg T, Barresi, Rita, Bushby, Kate, Straub, Volker

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APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study von Kurz, Martin Wilhelm, Dekomien, Gabriele, Nilsen, Odd Bjarte, Larsen, Jan Petter, Aarsland, Dag, Alves, Guido

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WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature von Hoffjan, Sabine, Ibisler, Aysegül, Tschentscher, Anne, Dekomien, Gabriele, Bidinost, Carla, Rosa, Alberto L.

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LAMA2-related congenital muscular dystrophy complicated by West syndrome von Camacho, Ana, Núñez, Noemí, Dekomien, Gabriele, Hernández-Laín, Aurelio, de Aragón, Ana Martínez, Simón, Rogelio

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Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus S... von Sobek, Anna K.U., Evers, Christina, Dekomien, Gabriele

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