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13 results for Roser,+Timo

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ArticlesPeer ReviewedFull Text
Monogenic variants in dystonia: an exome-wide sequencing study
Author / Creator:Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Vill, Katharina ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2020-11, Vol.19 (11), p.908-918
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Author / Creator:Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia ; Heinze, Anja ; Roser, Timo ; Koch-Hogrebe, Margarete ; Roosendaal, Stefan D ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Torti, Erin ; Houlden, Henry ; Maroofian, Reza ; Rajabi, Farrah ; Sticht, Heinrich ; Baas, Frank ; Wieczorek, Dagmar ; Jamra, Rami Abou
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.411-421
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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
Author / Creator:Saffari, Afshin ; Brösse, Ines ; Wiemer-Kruel, Adelheid ; Wilken, Bernd ; Kreuzaler, Paula ; Hahn, Andreas ; Bernhard, Matthias K ; van Tilburg, Cornelis M ; Hoffmann, Georg F ; Gorenflo, Matthias ; Hethey, Sven ; Kaiser, Olaf ; Kölker, Stefan ; Wagner, Robert ; Witt, Olaf ; Merkenschlager, Andreas ; Möckel, Andreas ; Roser, Timo ; Schlump, Jan-Ulrich ; Serfling, Antje ; Spiegler, Juliane ; Milde, Till ; Ziegler, Andreas ; Syrbe, Steffen
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.96-96, Article 96
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ArticlesPeer ReviewedFull Text
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents
Author / Creator:Moorhouse, Frederik Jan ; Cornell, Sonia ; Gerstl, Lucia ; Tacke, Moritz ; Roser, Timo ; Heinen, Florian ; Bonfert, Michaela ; von Stülpnagel, Celina ; Wagner, Matias ; Borggraefe, Ingo
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-12, Vol.10 (1), p.21543-21543, Article 21543
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Author / Creator:Pehlivan, Davut ; Bengtsson, Jesse D ; Bajikar, Sameer S ; Grochowski, Christopher M ; Lun, Ming Yin ; Gandhi, Mira ; Jolly, Angad ; Trostle, Alexander J ; Harris, Holly K ; Suter, Bernhard ; Aras, Sukru ; Ramocki, Melissa B ; Du, Haowei ; Mehaffey, Michele G ; Park, KyungHee ; Wilkey, Ellen ; Karakas, Cemal ; Eisfeldt, Jesper J ; Pettersson, Maria ; Liu, Lynn ; Shinawi, Marwan S ; Kimonis, Virginia E ; Wiszniewski, Wojciech ; Mckenzie, Kyle ; Roser, Timo ; Vianna-Morgante, Angela M ; Cornier, Alberto S ; Abdelmoity, Ahmed ; Hwang, James P ; Jhangiani, Shalini N ; Muzny, Donna M ; Mitani, Tadahiro ; Muramatsu, Kazuhiro ; Nabatame, Shin ; Glaze, Daniel G ; Fatih, Jawid M ; Gibbs, Richard A ; Liu, Zhandong ; Lindstrand, Anna ; Sedlazeck, Fritz J ; Lupski, James R ; Zoghbi, Huda Y ; Carvalho, Claudia M B
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-12, Vol.16 (1), p.146-23, Article 146
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Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation
Author / Creator:Hoelz, Hannes ; Coppenrath, Eva ; Hoertnagel, Konstanze ; Roser, Timo ; Tacke, Moritz ; Gerstl, Lucia ; Borggraefe, Ingo
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Clinical EEG and neuroscience, 2018-05, Vol.49 (3), p.187-191
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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, con...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Syrbe, Steffen ; Saffari, Afshin
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1), p.2-10, Article 2
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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1)
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ArticlesPeer ReviewedFull Text
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1)
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ReportsFull Text
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...
Author / Creator:Driedger, Jan H ; Schröter, Julian ; Hertzberg, Christoph ; Weschke, Bernhard ; Kaindl, Angela M ; Lücke, Thomas ; Thiels, Charlotte ; Klotz, Kerstin Alexandra ; Fazeli, Walid ; Rostásy, Kevin ; Wiethoff-Ubrig, Lucia ; Kaiser, Olaf ; Trollmann, Regina ; Mammadova, Dilbar ; Schubert-Bast, Susanne ; Bach, Alexia ; Eckenweiler, Matthias ; Schönberger, Jan ; Martakis, Kyriakos ; Hahn, Andreas ; Brockmann, Knut ; Dreha-Kulaczewski, Steffi ; Weiss, Deike ; Denecke, Jonas ; Muhle, Hiltrud ; Arelin, Maria ; Merkenschlager, Andreas ; Borggräfe, Ingo ; Roser, Timo ; Ebrahimi-Fakhari, Daniel ; Fiedler, Barbara ; Schlump, Jan-Ulrich ; Köster, Ilka ; Korenke, Christoph ; Alber, Michael ; Ruf, Susanne ; Feucht, Martha ; Scholl, Theresa
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2025, Vol.20 (1)
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ReportsFull Text
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Author / Creator:Pehlivan, Davut ; Bengtsson, Jesse D ; Bajikar, Sameer S ; Grochowski, Christopher M ; Lun, Ming Yin ; Gandhi, Mira ; Jolly, Angad ; Trostle, Alexander J ; Harris, Holly K ; Suter, Bernhard ; Aras, Sukru ; Ramocki, Melissa B ; Du, Haowei ; Mehaffey, Michele G ; Park, KyungHee ; Wilkey, Ellen ; Karakas, Cemal ; Eisfeldt, Jesper J ; Pettersson, Maria ; Liu, Lynn ; Shinawi, Marwan S ; Kimonis, Virginia E ; Wiszniewski, Wojciech ; Mckenzie, Kyle ; Roser, Timo ; Vianna-Morgante, Angela M ; Cornier, Alberto S ; Abdelmoity, Ahmed ; Hwang, James P ; Jhangiani, Shalini N ; Muzny, Donna M ; Mitani, Tadahiro ; Muramatsu, Kazuhiro ; Nabatame, Shin ; Glaze, Daniel G ; Fatih, Jawid M ; Gibbs, Richard A ; Liu, Zhandong ; Lindstrand, Anna ; Sedlazeck, Fritz J ; Lupski, James R ; Zoghbi, Huda Y ; Carvalho, Claudia M. B
Publisher:BioMed Central Ltd
Journal title:Genome Medicine, 2024, Vol.16 (1)
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ReportsFull Text
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
Author / Creator:Saffari, Afshin ; Brösse, Ines ; Wiemer-Kruel, Adelheid ; Wilken, Bernd ; Kreuzaler, Paula ; Hahn, Andreas ; Bernhard, Matthias K ; van Tilburg, Cornelis M ; Hoffmann, Georg F ; Gorenflo, Matthias ; Hethey, Sven ; Kaiser, Olaf ; Kölker, Stefan ; Wagner, Robert ; Witt, Olaf ; Merkenschlager, Andreas ; Möckel, Andreas ; Roser, Timo ; Schlump, Jan-Ulrich ; Serfling, Antje ; Spiegler, Juliane ; Milde, Till ; Ziegler, Andreas ; Syrbe, Steffen
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2019, Vol.14 (1)
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ArticlesPeer ReviewedFull Text
Auch Maschinen haben einen Biorhythmus: Komplexe Systeme mit diagnostischem Data Mining analysieren und optimieren
Author / Creator:Langer, Bernd ; Gems, Bernd ; Wenger, Daniel ; Schäfer, Timo ; Roser, Christoph
Publisher:Baden-Baden: Schaeffer Poeschel Verlag
Journal title:Zeitschrift Führung + Organisation, 2021-04 (2), p.74-82
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Monogenic variants in dystonia: an exome-wide sequencing study

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study

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Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

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Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, con...

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb national multicentr...

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study

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Auch Maschinen haben einen Biorhythmus: Komplexe Systeme mit diagnostischem Data Mining analysieren und optimieren

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