Search Results - "Hoffman‐Zacharska, D."

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.

“…MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene…”
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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.

“…Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous…”
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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.

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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

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

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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

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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

“…In 229 patients with dementia and in 144 control subjects, polymorphisms of apolipoprotein E (ApoE), low-density-lipoprotein (LDL)-receptor-related protein,…”
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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

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

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

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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

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

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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.

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Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project 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

“…Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically…”
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The heterozygous mutation of LRRK2 gene – p.Asp1437His in Polish family by Milanowski, L, Geremek, M, Hoffman-Zacharska, D, Szlufik, S, Friedman, A, Koziorowski, D

“…Parkinson’s disease (PD) is the second most common neurodegenerative disorder, with the prevalence of about 1% in people over 60 years of age. PD results from…”
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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

“…Background Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in…”
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Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis by Mierzewska, H, Jamroz, E, Mazurczak, T, Hoffman-Zacharska, D, Szczepanik, E

“…Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The…”
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SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6 by Sulek, Anna, Hoffman-Zacharska, Dorota, Zdzienicka, Elzbieta, Zaremba, Jacek

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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

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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

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