Výsledky vyhledávání - Anna Jansen

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  1. 1
    Genetics of the polymicrogyria syndromes

    Genetics of the polymicrogyria syndromes Autor Anna Jansen, E. Andermann

    Vydáno 2005
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  2. 2
    Polymicrogyria: pathology, fetal origins and mechanisms

    Polymicrogyria: pathology, fetal origins and mechanisms Autor Waney Squier, Anna Jansen

    Vydáno 2014
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  3. 3
    Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist

    Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist Autor Loren Leclezio, Anna Jansen, Vicky Whittemore, Petrus J. de Vries

    Vydáno 2014
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  4. 4
    The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

    The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life Autor Joël Vos, Wilma Otten, Christi J. van Asperen, Anna Jansen, Fred H. Menko, Aad Tibben

    Vydáno 2007
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  5. 5
    The histopathology of polymicrogyria: a series of 71 brain autopsy studies

    The histopathology of polymicrogyria: a series of 71 brain autopsy studies Autor Anna Jansen, Yves Robitaille, Mrinalini Honavar, Nandini Mullatti, Richard J. Leventer, Eva Andermann, Frédérick Andermann, Waney Squier

    Vydáno 2015
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  6. 6
    Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies

    Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies Autor Lawrence Yao, Adrienne L. Yip, Joseph A. Shrader, Sepehr Mesdaghinia, Rita Volochayev, Anna Jansen, Frederick W. Miller, Lisa G. Rider

    Vydáno 2015
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  7. 7
    Periventricular nodular heterotopia with overlying polymicrogyria

    Periventricular nodular heterotopia with overlying polymicrogyria Autor Gretchen Wieck, Richard J. Leventer, Waney M. Squier, Anna Jansen, Eva Andermann, François Dubeau, Anna Ramazzotti, Renzo Guerrini, William B. Dobyns

    Vydáno 2005
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  8. 8
    Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

    Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist Autor Petrus J. de Vries, Vicky Whittemore, Loren Leclezio, Anna W. Byars, David Dunn, Kevin C. Ess, Dena Hook, Bryan H. King, Mustafa Şahin, Anna Jansen

    Vydáno 2014
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  9. 9
    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature Autor Helene Verhelst, Paul Boon, Gunnar Buyse, Berten Ceulemans, Marc D’Hooghe, Linda De Meırleır, Danièle Hasaerts, Anna Jansen, Lieven Lagae, Alfred Meurs, Rudy Van Coster, Kristl Vonck

    Vydáno 2005
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  10. 10
    A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

    A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report Autor Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F.L. Hofbauer, Anna Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J.C. Kingswood, Romina Moavero, Roser Torrá, Vicente Villanueva

    Vydáno 2019
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  11. 11
    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Autor Richard J. Leventer, Anna Jansen, Daniela T. Pilz, Neil Stoodley, Carla Marini, François Dubeau, J. Y. Malone, Lex A. Mitchell, Simone Mandelstam, Ingrid E. Scheffer, Samuel F. Berkovic, Frédérick Andermann, Eva Andermann, Renzo Guerrini, William B. Dobyns

    Vydáno 2010
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  12. 12
    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience Autor Darcy A. Krueger, Jamie K. Capal, Paolo Curatolo, Orrin Devinsky, Kevin C. Ess, Michal Tzadok, Mary Kay Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jóźwiak, Petrus de Vries, Anna Jansen, Michael Wong, David Mowat, John A. Lawson, Stephanie Bruns, David Neal Franz

    Vydáno 2018
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  13. 13
    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline Autor Katia Hardies, Yiying Cai, Claude Jardel, Anna Jansen, Mian Cao, Patrick May, Tania Djémié, C. Hachon Le Camus, Kathelijn Keymolen, Tine Deconinck, Vikas Bhambhani, Catherine Long, Samin A. Sajan, Katherine L. Helbig, Arvid Suls, Rudi Balling, Ingo Helbig, Peter De Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen

    Vydáno 2016
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  14. 14
    Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

    Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study Autor Romina Moavero, Arianna Benvenuto, Leonardo Emberti Gialloreti, Martina Siracusano, Katarzyna Kotulska, Bernhard Weschke, Kate Riney, Floor E. Jansen, Martha Feucht, Pavel Kršek, Rima Nabbout, Anna Jansen, Konrad Wojdan, Julita Borkowska, Krzystof Sadowski, Christoph Hertzberg, Hanna M. Hulshof, Sharon Samueli, Barbora Beňová, Eleonora Aronica, David J. Kwiatkowski, Lieven Lagae, Sergiusz Jóźwiak, Paolo Curatolo

    Vydáno 2019
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  15. 15
    Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the <scp>EPISTOP</scp> Trial

    Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the <scp>EPISTOP</scp> Trial Autor Katarzyna Kotulska, David J. Kwiatkowski, Paolo Curatolo, Bernhard Weschke, Kate Riney, Floor E. Jansen, Martha Feucht, Pavel Kršek, Rima Nabbout, Anna Jansen, Konrad Wojdan, Kamil Sijko, Jagoda Głowacka‐Walas, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska‐Pakieła, Romina Moavero, Christoph Hertzberg, Hanna M. Hulshof, Theresa O. Scholl, Barbora Beňová, Eleonora Aronica, Jessie De Ridder, Lieven Lagae, Sergiusz Jóźwiak

    Vydáno 2020
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  16. 16
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development Autor Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    Vydáno 2020
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  17. 17
    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology Autor Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard

    Vydáno 2022
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  18. 18
    The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

    The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review Autor Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Jennifer Flinn, Sugnet Gardner‐Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J.C. Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Şahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna Jansen, Petrus J. de Vries

    Vydáno 2022
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  19. 19
    International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

    International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Autor Petrus J. de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W. Byars, Jennifer Flinn, Tanjala Gipson, Agnies M. van Eeghen, Robert Waltereit, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Catherine Smith, J.C. Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner‐Lubbe, Aubrey J. Kumm, Darcy A. Krueger, Mustafa Şahin, Liesbeth De Waele, Anna Jansen

    Vydáno 2023
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  20. 20
    Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)

    Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ) Autor Nola Chambers, Tosca-Marie Heunis, Sugnet Gardner‐Lubbe, Jamie K. Capal, Stacey Bissell, Anna W. Byars, Sebastián Cukier, Peter E. Davis, Jennifer Flinn, Tanjala Gipson, J.C. Kingswood, Aubrey J. Kumm, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Robert Waltereit, Darcy A. Krueger, Mustafa Şahin, Liesbeth De Waele, Anna Jansen, Petrus J. de Vries

    Vydáno 2025
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