The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders by Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.

Get full text

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology by Charzewska, A., Wierzba, J., Iżycka‐Świeszewska, E., Bekiesińska‐Figatowska, M., Jurek, M., Gintowt, A., Kłosowska, A., Bal, J., Hoffman‐Zacharska, D.

Get full text

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism by Charzewska, A., Rzońca, S., Janeczko, M., Nawara, M., Smyk, M., Bal, J., Hoffman-Zacharska, D.

Get full text

Not only Dravet Syndrome – How broad the phenotypic spectrum of SCN1A mutations may be? by Hoffman-Zacharska, D, Terczynska, I, Gorka-Skoczylas, P, Tataj, R, Mazurczak, T, Winczewska-Wiktor, A, Antczak-Marach, D, Paprocka, J, Głuszkiewicz, E, Szczepanik, E

Get full text

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY by Koziorowski, D, Jurek, M, Hoffman-Zacharska, D, Bal, J, Friedman, A

Get full text

3.023 FREQUENCY OF THE MUTATIONS IN THE PARK2, PINK1 AND DJ-1 GENES IN POLISH PATIENTS WITH THE EARLY-ONSET PARKINSON DISEASE by Koziorowski, D, Hoffman-Zacharska, D, Sławek, J, Górka, P, Bal, J, Roszmann, A, Friedman, A

Get full text

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients by Kovel, Carolien G.F., Brilstra, Eva H., Kempen, Marjan J.A., Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber

Get full text

Differences in Risk Factors for Dementia with Neurodegenerative Traits and for Vascular Dementia by Wehr, H., Bednarska-Makaruk, M., Łojkowska, W., Graban, A., Hoffman-Zacharska, D., Kuczyńska-Zardzewiały, A., Mrugała, J., Rodo, M., Bochyńska, A., Sułek, A., Ryglewicz, D.

Get full text

P3.098 Molecular analysis PARK2 and DJ-1 mutations in Polish early onset Parkinson's disease patients by Koziorowski, D, Hoffman-Zacharska, D, Romańczuk, A, Slawek, J, Bal, J, Friedman, A

Get full text

Severe myoclonic epilepsy in infancy (SMEI or Dravet Syndrome) confirmed molecularly – a case report by Szczepanik, E, Hoffman-Zacharska, D, Terczyńska, I

Get full text

Pelizaeus – Merzbacher Disease – the same molecular defect but different clinical picture by Hoffman-Zacharska, D, Mierzewska, H, Kierdaszuk, A, Maogon, dry, J

Get full text

2.107 Analysis of the PARK2 mutations in Polish early onset Parkinson's disease patients by Koziorowski, D, Hoffman-Zacharska, D, Nawara, M, Friedman, A, Slawek, J

Get full text

Rare neurodegenerative and neurometabolic diseases with white matter involvement by Mierzewska, H, van der Knaap, M.S, Jurkiewicz, E, Salomons, G, Hoffman-Zacharska, D

Get full text

SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6 by Sulek, Anna, Hoffman-Zacharska, Dorota, Zdzienicka, Elzbieta, Zaremba, Jacek

Get full text

PLA2G6-associated neurodegeneration in three different populations-case series by Milanowski, L., Hanna AL-Shaikh, R., Holla, V., Kurihara, K., Yadav, R., Kamble, N., Muthusamy, B., Koziorowski, D., Szlufik, S., Hoffman-Zacharska, D., Fujioka, S., Ross, O.A., Wierenga, K., Wszolek, Z.K., Pal, P.K.

Get full text

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients by Koziorowski, Dariusz, Hoffman-Zacharska, Dorota, Sławek, Jarosław, Jamrozik, Zygmunt, Janik, Piotr, Potulska-Chromik, Anna, Roszmann, Anna, Tataj, Renata, Bal, Jerzy, Friedman, Andrzej

Get full text

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Projec... by Vollstedt, Eva-Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N, Alvarez, Victoria, Amorin, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A, Barkhuizen, Melinda, Basak, A Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean-Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, de Carvalho Aguiar, Patricia, De Rosa, Anna, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N, Jankovic, Joseph, Jesús, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A, Lang, Anthony E, Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M, Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, van de Warrenburg, Bart, Williams-Gray, Caroline H, Wu, Ruey-Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine

Get full text

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease by METZGER, Silke, BAIUER, Peter, MELEGH, Bela, HAVASI, Victoria, BALIKO, Lazlo, WIECZOREK, Stefan, ARNING, Larissa, ZAREMBA, Jacek, SUIEK, Anna, HOFFMAN-ZACHARSKA, Dorota, BASAK, A. Nazli, ERSOY, Nagehan, TOMIUK, Juergen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBAÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, SOLIVERI, Paola, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K

Get full text

P25 – 2072 Diagnostic clues and difficulties in Dravet syndrome starting from 34 Dravet patients analysis within Romanian Research Group for Rare Genetic Epilepsies by Craiu, D, Barca, D, Burloiu, C, Butoianu, N, Deconinck, T, Gos, M, Hoffman-Zacharska, D, Iancu, D, Minciu, I, Motoescu, C, Sandu, C, Tarta-Arsene, O, Weckhuysen, S, Iliescu, C

Get full text

P228 – 2031 Preliminary results of the study of Rett syndrome phenotype in 27 patients from a Romanian pediatric neurology clinic by Anghelescu, C, Barca, D, Burloiu, C, Butoianu, N, Darja, M, Gherghiceanu, R, Iliescu, C, Gos, M, Hoffman-Zacharska, D, Iancu, D, Minciu, I, Motoescu, C, Sandu, C, Tarta-Arsene, O, Todorova, A, Craiu, D

Get full text