檢索結果 - Michael Alber

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  1. 1
    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 由 Georgia Ramantani, Bigna K. Bölsterli, Michael Alber, Joerg Klepper, Rudolf Korinthenberg, Gerhard Kurlemann, Daniel Tibussek, Markus Wolff, Bernhard Schmitt

    出版 2022
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  2. 2
    Cenobamate: real-world data from a retrospective multicenter study

    Cenobamate: real-world data from a retrospective multicenter study 由 Stephan Lauxmann, David Heuer, Jan Heckelmann, Florian P. Fischer, Melanie Schreiber, Elisabeth Schriewer, Guido Widman, Yvonne G. Weber, Holger Lerche, Michael Alber, Sigrid Schuh‐Hofer, Stefan Wolking

    出版 2024
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  3. 3
    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene

    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene 由 Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Füsun Alehan, Johannes R. Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna‐Elina Lehesjoki

    出版 2012
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  4. 4
    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants 由 Géza Berecki, Katherine B. Howell, Jacqueline Heighway, N.B. Olivier, Jill Rodda, Isabella Overmars, Danique R.M. Vlaskamp, Tyson L. Ware, Simone Ardern‐Holmes, Gaëtan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

    出版 2022
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  5. 5
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy 由 Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    出版 2018
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  6. 6
    Targeted next generation sequencing as a diagnostic tool in epileptic disorders

    Targeted next generation sequencing as a diagnostic tool in epileptic disorders 由 Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva Christina Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith F. Kroll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm, Saskia Biskup

    出版 2012
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  7. 7
    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, controlled phase IIb national multicentre clinical trial: study protocol

    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,... 由 Jan H. Driedger, Julian Schröter, Christoph Hertzberg, Bernhard Weschke, Angela M. Kaindl, Thomas Lücke, Charlotte Thiels, Kerstin Alexandra Klotz, Walid Fazeli, Charlotte Thiels, Lucia Wiethoff-Ubrig, Olaf Kaiser, Regina Trollmann, Dilbar Mammadova, Susanne Schubert‐Bast, Alexia Bach, Matthias Eckenweiler, Jan Schönberger, Kyriakos Martakis, Andreas Hahn, Knut Brockmann, Steffi Dreha‐Kulaczewski, Deike Weiss, Jonas Denecke, Hiltrud Muhle, Maria Arélin, Andreas Merkenschlager, Ingo Borggräfe, Timo Roser, Daniel Ebrahimi‐Fakhari, Barbara Fiedler, Jan-Ulrich Schlump, Ilka Köster, Christoph Korenke, Michael Alber, Susanne Ruf, Martha Feucht, Theresa O. Scholl, Steffen Syrbe, Afshin Saffari

    出版 2025
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  8. 8
    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect 由 Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

    出版 2018
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  9. 9
    Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

    Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial 由 Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber, Mario Cortina‐Borja, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, John Osborne, Maysara Abdel Aziz, Triloknath Acharya, Carolyn Adcock, Robert Jones, Rachel Howells, Ben Marsh, Kemi Adejare, Rashmi Adiga, Mary Wheater, Mansoor Ahmed, Mohammad Sawal, Chhavi Goel, Mas Ahmed, Michael Alber, Markus Wolff, Susanne Ruf, Asya M Al-Kharusi, Hassan Al-Moasseb, Ruchi Arora, R.C. Beach, Patricia Atkinson, Kunle Ayonrinde, Pronab Bala, Nicola Bamford, Nagi Barakat, Nigel Basheer, Peter Baxter, Santosh Mordekar, Chris Rittey, Ingo Borggraefe, Peter Borusiak, Sabine Cagnoli, Richard Brown, Sophie Calvert, Sophie Calvert, Duncan Cameron, Ramesh Chaniyil, Ravi Chinthapalli, Gabriel Chow, William Whitehouse, V. Clarke, Chris Cooper, Alexane Datta, Selwyn D'Costa, Christian de Goede, Helen Basu, David Deekollu, Adela Della Marina, Penelope Dison, Colin Dunkley, Megan M. Eaton, Julie Ellison, R. C. B. Pugh, Penny Fallon, Hani Faza, Imti Choonara, Richard E. Morton, Mal Ratnayaka, Colin D. Ferrie, Amanda Freeman, Stephen Warriner, María del Carmen García, Malihe Ghazavi, Frances Gibbon, J. M. Gibbs, Des Ginbey, Iolanda Guarino, Rajesh Gupta, Mary Hanlon, Siân Harris, Paul Munyard, Cheryl Hemingway, Christin Eltze, Marios Kaliakatsos, V. Murugan, Robert Robinson, Jeen Tan, Daniel Hindley, Adrian Hughes, Akmal Hussain, Greg Boden, Munir A. Hussain

    出版 2018
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  10. 10
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications 由 Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    出版 2021
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