Rezultati pretrage - Joerg Klepper

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  1. 1
    GLUT1 deficiency syndrome – 2007 update

    GLUT1 deficiency syndrome – 2007 update od Joerg Klepper, B. Leiendecker

    Izdano 2007
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  2. 2
    10 patients, 10 years – Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series

    10 patients, 10 years – Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series od Nicole Heußinger, Adela Della Marina, Andreas Beyerlein, B. Leiendecker, Sofia Hermann-Alves, Robert Dalla Pozza, Joerg Klepper

    Izdano 2017
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  3. 3
    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... od Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    Izdano 2014
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  4. 4
    Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics

    Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics od Georgia Ramantani, Bigna K. Bölsterli, Michael Alber, Joerg Klepper, Rudolf Korinthenberg, Gerhard Kurlemann, Daniel Tibussek, Markus Wolff, Bernhard Schmitt

    Izdano 2022
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  5. 5
    Ketogenic diet guidelines for infants with refractory epilepsy

    Ketogenic diet guidelines for infants with refractory epilepsy od Elles van der Louw, Dorine van den Hurk, Elizabeth Neal, Bärbel Leiendecker, Georgiana Fitzsimmon, Laura Dority, Lindsey Thompson, Maddelena Marchió, Magdalena Dudzińska, Anastasia Dressler, Joerg Klepper, Stéphane Auvin, J. Helen Cross

    Izdano 2016
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  6. 6
    Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

    Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement od Rebecca C. Ahrens‐Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti‐Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Fıçıcıoğlu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura Adang

    Izdano 2018
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  7. 7
    Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group

    Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group od Eric H. Kossoff, Beth Zupec‐Kania, Per Åmark, Karen Ballaban‐Gil, Anna Bergqvist, Robyn Blackford, Jeffrey Buchhalter, Roberto Caraballo, J. Helen Cross, Maria Dahlin, Elizabeth Donner, Joerg Klepper, Rana Jehle, Heung Dong Kim, Y. M. Christiana Liu, Judy Nation, Douglas R. Nordli, Heidi H. Pfeifer, Jong M. Rho, Carl E. Stafstrom, Elizabeth A. Thiele, Zahava Turner, Elaine Wirrell, James W. Wheless, Pierangelo Veggiotti, Eileen P.G. Vining

    Izdano 2008
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  8. 8
    Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

    Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group od Joerg Klepper, Cigdem I. Akman, Marisa Armeno, Stéphane Auvin, Mackenzie C. Cervenka, J. Helen Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heußinger, Eric H. Kossoff, Wilhelmina G. Leen, B. Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michèl A.A.P. Willemsen, Sameer M. Zuberi, Darryl C. De Vivo

    Izdano 2020
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  9. 9
    Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group

    Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group od Eric H. Kossoff, Beth Zupec‐Kania, Stéphane Auvin, Karen Ballaban‐Gil, Anna Bergqvist, Robyn Blackford, Jeffrey Buchhalter, Roberto Caraballo, J. Helen Cross, Maria Dahlin, Elizabeth Donner, Orkide Güzel, Rana Jehle, Joerg Klepper, Hoon‐Chul Kang, Danielle A.J.E. Lambrechts, Y.M. Christiana Liu, Janak Nathan, Douglas R. Nordli, Heidi H. Pfeifer, Jong M. Rho, Ingrid E. Scheffer, Suvasini Sharma, Carl E. Stafstrom, Elizabeth A. Thiele, Zahava Turner, María Vaccarezza, Elles van der Louw, Pierangelo Veggiotti, James W. Wheless, Elaine Wirrell

    Izdano 2018
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  10. 10
    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification od Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola

    Izdano 2013
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  11. 11
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy od Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen

    Izdano 2016
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  12. 12
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders od Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Izdano 2017
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  13. 13
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome od Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    Izdano 2007
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  14. 14
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria od Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Izdano 2023
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