A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa by Szczałuba, K., Szymańska, K., Rydzanicz, M., Ciara, E., Walczak, A., Piekutowska‐Abramczuk, D., Kosińska, J., Jacoszek, A., Czerska, K., Biernacka, A., Laure‐Kamionowska, M., Gasperowicz, P., Pronicka, E., Płoski, R.

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene by Szczaluba, K., Hilbert, K., Obersztyn, E., Zabel, B., Mazurczak, T., Kozlowski, K.

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Familial case of paroxysmal nonkinesigenic dyskinesia caused by mutation inMR-1 gene – evidence for reduced penetrance and implications for treatment by Szczaluba, K, Jurek, M, Szczepanik, E

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Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques by Obersztyn, E, Nawara, M, Smyk, M, Nowakowska, B, Szczaluba, K, Stankiewicz, P, Chilarska, T, Bocian, E, Bal, J, Mazurczak, T

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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay by Obersztyn, E, Szczaluba, K, Smyk, M, Ryniewicz, B, Fidzianska, A, Nowakowska, B, Stankiewicz, P, Bocian, E, Mazurczak, T

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The ARX mutations: A frequent cause of X-linked mental retardation by Nawara, Magdalena, Szczaluba, Krzysztof, Poirier, Karine, Chrzanowska, Krystyna, Pilch, Jacek, Bal, Jerzy, Chelly, Jamel, Mazurczak, Tadeusz

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene by Szczaluba, K., Hilbert, K., Obersztyn, E., Zabel, B., Mazurczak, T., Kozlowski, K.

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects by Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

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Developmental epileptic encephalopathy in DLG4‐related synaptopathy by Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah‐Politi, Anya, Rheims, Sylvain, Rodríguez‐Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido

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