Zobrazeno 1 - 7
of 7
pro vyhledávání: '"diagnosis [Intellectual Disability]"'
Autor:
Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786
Item does not contain fulltext 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of pa
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. 33:126-138
Background Subjects with intellectual disability (ID) are vulnerable to experience psychiatric disorders. The present authors performed a systematic review and meta-analysis to estimate the prevalence of co-occurring psychiatric disorders, excluding
Autor:
Sabine Endele, Ina Schanze, Hartmut Engels, Alexander M. Zink, Julie S. Cohen, Saskia Biskup, Siddharth Srivastava, Siddharth Gupta, Thomas Wieland, M. Menzel, Sakkubai Naidu, Tim M. Strom, Kirsten Cremer, Max Schubach, Martina Kreiß, Dagmar Wieczorek, Martin Zenker
Publikováno v:
Eur. J. Hum. Genet. 24, 556-561 (2016)
European journal of human genetics 24(4), 556-561 (2015). doi:10.1038/ejhg.2015.151
European journal of human genetics 24(4), 556-561 (2015). doi:10.1038/ejhg.2015.151
Intellectual disability (ID) affects 2-3% of the population. In the past, many genetic causes of ID remained unidentified due to its vast heterogeneity. Recently, whole exome sequencing (WES) studies have shown that de novo variants underlie a signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57282f1fdb0e5ba69fbeea45386553
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46307
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46307
Autor:
Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns
Publikováno v:
Cerebellum, 14(3), 378-81. SPRINGER
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7
Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative disorders. Although many ataxia genes have been identified, about 50 % of cases await the identification of the genetic cause [1]. High-throughput sequencing, namely wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b079dc1170073cbab678ec415d02b4a2
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd
Autor:
Nathalie Drouot, Jaeho Lee, Fabrice A.C. Klein, Mustafa A. Salih, Matthis Synofzik, Martial Mallaret, Cyril Mignot, Peter Bauer, Mathilde Renaud, Christine Tranchant, Michel Koenig, Cari A. Sagum, Rebecca Schüle, Jean-Louis Mandel, Mathieu Anheim, Rajech Sharkia, Muhammad Mahajnah, Mark T. Bedford, C. Marcelo Aldaz, Ludger Schöls
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (2), pp.411-419. ⟨10.1093/brain/awt338⟩
Brain 137(2), 411-419 (2013). doi:10.1093/brain/awt338
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (2), pp.411-419. ⟨10.1093/brain/awt338⟩
Brain 137(2), 411-419 (2013). doi:10.1093/brain/awt338
International audience; We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c9cbfa753441cf696b353087fcde78
https://hal.umontpellier.fr/hal-02434727
https://hal.umontpellier.fr/hal-02434727
Autor:
Lemke, Johannes R., Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J., James, Victoria M., Pepler, Alex, Steiner, Isabelle, Hoertnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
Publikováno v:
Annals of neurology 75(1), 147-154 (2014). doi:10.1002/ana.24073
Annals of Neurology
Annals of neurology
Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073
Annals of Neurology
Annals of neurology
Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073
Objective: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations. Methods: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f246cf19f96a09aaae2580ebc8598094
https://pub.dzne.de/record/137262
https://pub.dzne.de/record/137262