Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Eve Õiglane-Shlik"'
Autor:
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ qual
Externí odkaz:
https://doaj.org/article/34c5d0e86045450fa6bcd2f503b01e7f
Autor:
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 80-89 (2018)
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients
Externí odkaz:
https://doaj.org/article/c6819098f45c44c3bfb487313109db89
Autor:
Vallo Tillmann, Karit Reinson, Pille Mee, Rita Teek, Mari-Anne Vals, Tiina Kahre, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Riina Žordania, Katrin Õunap, Aleksandr Peet, Maria Yakoreva, Monica H. Wojcik
Publikováno v:
Eur J Hum Genet
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to de
Autor:
Tiina Talvik, Pilvi Ilves, Silva Lõo, Inga Talvik, Anneli Kolk, Dagmar Loorits, Ulvi Vaher, Rael Laugesaar, Eve Õiglane-Shlik, Mairi Männamaa
Publikováno v:
Epilepsia Open
SummaryObjective With an incidence up to 63 per 100,000 live births, perinatal stroke is an important cause of childhood epilepsy. The aim of the study was to find the prevalence of and predictive factors for epilepsy, and to describe the course of e
Autor:
Reka Kovacs-Nagy, Richard J. Rodenburg, Maaike Brink, Frans van den Brandt, Margit Nõukas, Till Acker, Liesbeth T. Wintjes, Anne Schänzer, Tobias B. Haack, Andreas Hahn, Karit Reinson, Sander Pajusalu, Uwe Ahting, Katrin Õunap, Eve Õiglane-Shlik
Publikováno v:
European Journal of Medical Genetics, 62, 11
European Journal of Medical Genetics, 62
European Journal of Medical Genetics, 62
Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which is located in the short arm of
Autor:
Andres Piirsoo, Margus Ennok, Ulvi Vaher, Ülle Murumets, Rita Teek, Anne Õunapuu, Eve Õiglane-Shlik, Sanna Puusepp, Tiiu Tomberg, Inga Talvik, Sander Pajusalu, Katrin Õunap, Tiia Reimand, Karit Reinson
Publikováno v:
American Journal of Medical Genetics Part A. 170:2173-2176
The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosi
Autor:
Kai Muru, Tiia Reimand, Monica H. Wojcik, Imbi Kuus, Sander Pajusalu, Pilvi Ilves, Katrin Õunap, Eve Õiglane-Shlik
Publikováno v:
Eur J Med Genet
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A homozygous missense substitution p.Ser31Leu in ZNHIT3 was recently identified as the primary
Autor:
Inga Talvik, Katrin Õunap, Klari Noormets, Pilvi Ilves, Tiina Talvik, Anneli Kolk, Rael Laugesaar, Aita Napa, Reet Rein, Tiia Reimand, Ulvi Vaher, Eve Õiglane-Shlik, Oivi Uibo, Kadi Veri
Publikováno v:
Journal of child neurology. 33(9)
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000. The
Autor:
Reet Rein, Katrin Õunap, Ülle Murumets, Richard J. Rodenburg, Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, Sander Pajusalu, Karit Reinson
Publikováno v:
Molecular Genetics and Metabolism Reports, 15, 80-89
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 80-89 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 15, pp. 80-89
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 80-89 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 15, pp. 80-89
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2098b84b5d3e3594a7473055404f7dce
http://hdl.handle.net/2066/191900
http://hdl.handle.net/2066/191900
Autor:
Elena Gardella, Lieven Lagae, Thomas Schmitt-Mechelke, Gerhard Kluger, Nine V A M Knoers, Sandrine Mary, Marina Trivisano, Grazia M.S. Mancini, Cyril Mignot, Laila Selim, Katrine M Johannesen, Karen Markussen Linnet, Ulrike B. S. Hedrich, Maria J Miranda, Walid Fazeli, Miriam Döcker, Hannah Stamberger, Rikke S. Møller, Stéphane Auvin, Saskia Biskup, Maja Hempel, Laurence Perrin, Laurent Villard, Claudio Finetti, Ingo Helbig, Nicola Specchio, Eve Õiglane-Shlik, Holger Lerche, Peter De Jonghe, John F Mantovani, Daniel H. Arndt, Helle Hjalgrim, Dinesh V Jillella, Ingeborg Krägeloh-Mann, Pasquale Striano, Sarah Weckhuysen, Silvia Masnada, Marie Deprez, G. Christoph Korenke, Elena Fontana, Ute Moog, Jess G. Thoene, Kristen Park, Thomas Bast, Reinhard Brückner, Rudy Van Coster, Beverly Wical, Sandra Chantot-Bastaraud, Damien Lederer, Eva H. Brilstra, Gaetan Lesca, Markus Wolff, Joerg Klepper, Diane Doummar, Robertino Dilena, Kees P.J. Braun, Nienke E. Verbeek, Alexandra Afenjar, Mathieu Milh, Oliver Maier, Perrine Charles, Marion Gérard, Katia Hardies, Emmanuel Scalais, Joachim Pietz, Federico Zara, Marjan J. A. van Kempen, Guido Rubboli, Hiltrud Muhle, Caroline Lardennois, Günther Golla, Johannes R. Lemke, Thomas Dorn, Berten Ceulemans, Gerhard Kurlemann, Tobias Loddenkemper, Nicolas Deconinck, Lily C. Wong-Kisiel, Friedrich A. M. Baumeister, Niklas Schwarz, Katherine L. Helbig, Konstanze Hörtnagel, Marina Nikanorova, Caroline Nava, Dorothée Ville
Publikováno v:
Brain, 140(5), 1316. Oxford University Press
Brain, 140, 1316-1336. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gérard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N V, Verbeek, N E, van Kempen, M J A, Braun, K P J, Mancini, G, Biskup, S, Hörtnagel, K, Döcker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brückner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Õiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, J R, Krägeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Møller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, no. 5, pp. 1316–1336 . https://doi.org/10.1093/brain/awx054
Brain, 140(5), 1316-1336. Oxford University Press
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, K P, Mancini, G, Biskup, S, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brueckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, de Jonghe, P, Weckhuysen, S, Lemke, J R, Kraegeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, pp. 1316-1336 . https://doi.org/10.1093/brain/awx054
Brain, 140, 1316-1336. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gérard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N V, Verbeek, N E, van Kempen, M J A, Braun, K P J, Mancini, G, Biskup, S, Hörtnagel, K, Döcker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brückner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Õiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, J R, Krägeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Møller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, no. 5, pp. 1316–1336 . https://doi.org/10.1093/brain/awx054
Brain, 140(5), 1316-1336. Oxford University Press
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, K P, Mancini, G, Biskup, S, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brueckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, de Jonghe, P, Weckhuysen, S, Lemke, J R, Kraegeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, pp. 1316-1336 . https://doi.org/10.1093/brain/awx054
International audience; Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47496a709295274c6c412d47a65d5e6d
https://dspace.library.uu.nl/handle/1874/361527
https://dspace.library.uu.nl/handle/1874/361527