Carolina Courage

Publications

Research output per year 2018 2019 2021 2024

• 9 Article

Research output per year

Research output per year

Search results

• 2024

  Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

  Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H. & Kuechler, A. & 72 others, Elffers, B., van Beeck Calkoen, R., Hofman, S., Smith, A., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S. M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., O'Connor, M., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Muir, A. M., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1605-1625 21 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2021

  Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

  Canafoglia, L., Franceschetti, S., Gambardella, A., Striano, P., Giallonardo, A. T., Tinuper, P., Di Bonaventura, C., Michelucci, R., Ferlazzo, E., Granata, T., Magaudda, A., Licchetta, L., Filla, A., La Neve, A., Riguzzi, P., Cantisani, T. A., Fanella, M., Castellotti, B., Gellera, C. & Bahlo, M. & 5 others, Zara, F., Courage, C., Lehesjoki, A.-E., Oliver, K. L. & Berkovic, S. F., Dec 2021, In: Neurology Genetics. 7, 6, 6 p., 641.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

  Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Grabinska, K. A., Muona, M., Canafoglia, L., Gambardella, A., Said, E., Afawi, Z., Baykan, B., Brandt, C., di Bonaventura, C., Chew, H. B., Criscuolo, C., Dibbens, L. M., Castellotti, B., Riguzzi, P., Labate, A. & Filla, A. & 19 others, Giallonardo, A. T., Berecki, G., Jackson, C. B., Joensuu, T., Damiano, J. A., Kivity, S., Korczyn, A., Palotie, A., Striano, P., Uccellini, D., Giuliano, L., Andermann, E., Scheffer, I. E., Michelucci, R., Bahlo, M., Franceschetti, S., Sessa, W. C., Berkovic, S. F. & Lehesjoki, A.-E., 1 Apr 2021, In: American Journal of Human Genetics. 108, 4, p. 722-738 17 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

  Mazzola, L., Oliver, K. L., Labalme, A., Baykan, B., Muona, M., Joensuu, T. H., Courage, C., Chatron, N., Borsani, G., Alix, E., Ramond, F., Touraine, R., Bahlo, M., Bebek, N., Berkovic, S. F., Lehesjoki, A.-E. & Lesca, G., Feb 2021, In: Annals of Neurology. 89, 2, p. 402-407 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

  Italian Undiagnosed Dis Network, V-ATPase Consortium, Bott, L. C., Forouhan, M., Lieto, M., Muona, M., Courage, C., Lehesjoki, A.-E. & Rinaldi, C., 1 Oct 2021, In: Brain communications. 3, 4, 14 p., 245.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2020

  A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

  Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A.-K., Tyynismaa, H., Courage, C. & Lehesjoki, A.-E., Mar 2020, In: European Journal of Medical Genetics. 63, 3, 7 p., 103766.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2019

  Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

  Courage, C., Jackson, C. B., Owczarek-Lipska, M., Jamsheer, A., Sowinska-Seidler, A., Piotrowicz, M., Jakubowski, L., Dalleves, F., Riesch, E., Neidhardt, J. & Lemke, J. R., Dec 2019, In: American journal of medical genetics. Part A. 179, 12, p. 2447-2453 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

• Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

  Pringsheim, M., Mitter, D., Schroeder, S., Warthemann, R., Pluemacher, K., Kluger, G., Baethmann, M., Bast, T., Braun, S., Buettel, H.-M., Conover, E., Courage, C., Datta, A. N., Eger, A., Grebe, T. A., Hasse-Wittmer, A., Heruth, M., Hoeft, K., Kaindl, A. M. & Karch, S. & 20 others, Kautzky, T., Korenke, G. C., Kruse, B., Lutz, R. E., Omran, H., Patzer, S., Philippi, H., Ramsey, K., Rating, T., Riess, A., Schimmel, M., Westman, R., Zech, F.-M., Zirn, B., Ulmke, P. A., Sokpor, G., Tuoc, T., Leha, A., Staudt, M. & Brockmann, K., Apr 2019, In: Annals of Clinical and Translational Neurology. 6, 4, p. 655-668 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2018

  Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

  Hofstaetter, C., Courage, C., Bartholdi, D., Biskup, S. & Raio, L., Feb 2018, In: Clinical Case Reports. 6, 2, p. 420-425 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File