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Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology

Autor: Anna Kłosowska, Jolanta Wierzba, Agnieszka Charzewska, M Bekiesińska-Figatowska, M Jurek, Jerzy Bal, A Gintowt, D. Hoffman-Zacharska, E Iżycka-Świeszewska

Publikováno v: Clinical Genetics. 90:293-304

Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a0072c6e19f9bebc860d69b424b8274
https://doi.org/10.1111/cge.12811

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Autor: de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t 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

Publikováno v: Molecular genetics and genomic medicine, 4(5), 568-580. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 4(5), 568-580. John Wiley and Sons Inc.
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(5), 568. John Wiley and Sons Inc.

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dab4670934e26f779833ea21ea6ed
https://pure.amc.nl/en/publications/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients(f62cb049-4457-4e53-9a45-97fa456012c5).html