Хайлтын үр дүнгүүд - D. Rating
- 20-н 1 - 20 үр дүнгүүдийг харуулж байна
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EEG and MEG Source Analysis of Single and Averaged Interictal Spikes Reveals Intrinsic Epileptogenicity in Focal Cortical Dysplasia -н Thomas Bast, Oezdin Oezkan, Sabine Rona, Christoph Stippich, Angelika Seitz, André Rupp, Susanne Fauser, Josef Zentner, D. Rating, Michael Scherg
Хэвлэсэн 2004Artigo -
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Status epilepticus in children with Alpers’ disease caused by <i>POLG1</i> mutations: EEG and MRI features -н Nicole I. Wolf, Shamima Rahman, Bernhard Schmitt, Jan‐Willem Taanman, Andrew Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, D. Rating, Thomas Bast
Хэвлэсэн 2008Artigo -
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Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism -н Andreas Schulze, Thomas Heß, Ron A. Wevers, Ertan Mayatepek, Peter Bachert, Bart Marescau, Michael V. Knopp, Peter Paul De Deyn, H. J. Bremer, D. Rating
Хэвлэсэн 1997Artigo -
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Levetiracetam in children with refractory epilepsy: A multicenter open label study in Germany -н Joachim Opp, Ingrid Tuxhorn, Theodor W. May, Gerhard Kluger, Adelheid Wiemer‐Kruel, G Kurlemann, G Gross-Selbeck, D. Rating, Ulrich Brandl, U Bettendorf, Christoph Härtel, Elisabeth Korn‐Merker
Хэвлэсэн 2005Artigo -
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Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients -н Susanne Fauser, Hans‐Jürgen Huppertz, Thomas Bast, Karl Strobl, Georgios Pantazis, Dirk-Matthias Altenmueller, Bertram Feil, Sabine Rona, Christoph Kurth, D. Rating, Rudolf Korinthenberg, Bernhard J. Steinhoff, Benedikt Volk, Andreas Schulze‐Bonhage
Хэвлэсэн 2006Artigo -
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Identification of biallelic<i>LRRK1</i>mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity -н Aritoshi Iida, Weirong Xing, M. Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, D. Rating, Jürgen W. Spranger, H Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa
Хэвлэсэн 2016Artigo -
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<i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern -н Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo Nijtmans, Anne Mitchell, H Arroyo, D. Rating, Adeline Vanderver, Carola G.M. van Berkel, Truus E. M. Abbink, Peter Heutink, Marjo S. van der Knaap
Хэвлэсэн 2013Artigo -
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Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial -н Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber, 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
Хэвлэсэн 2016Artigo -
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The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (<scp>ICISS</scp>) -н John Osborne, Stuart W. Edwards, Fabienne Dietrich Alber, 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, Finbar O’Callaghan
Хэвлэсэн 2019Artigo -
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy -н Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer
Хэвлэсэн 2008Artigo -
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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) -н Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente
Хэвлэсэн 2016Artigo -
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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum -н Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten G. Bönnemann, Knut Brockmann, H.‐J. Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten A. Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, D. Rating, Iva Stoeva, Hans‐Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude
Хэвлэсэн 2014Artigo -
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Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial -н 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
Хэвлэсэн 2018Artigo -
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> -н Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha
Хэвлэсэн 2020Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Medicine
Internal medicine
Epilepsy
Psychiatry
Pediatrics
Biology
Genetics
Pathology
Anesthesia
Gene
Psychology
Adverse effect
Endocrinology
Neuroscience
Phenotype
Randomized controlled trial
Anticonvulsant
Biochemistry
Chemistry
Cortical dysplasia
Electroencephalography
Epileptic spasms
Exome sequencing
Hormone
Levetiracetam
Magnetic resonance imaging
Mutation
Physics
Radiology
Status epilepticus