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Joerg Klepper

Showing results (21-30 of 41) with videos related to

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Neuropediatrics|July 26, 2022
Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of NeuropediatricsGeorgia Ramantani, Bigna K Bölsterli, Michael Alber, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Neurology|December 11, 2013
Child neurology: differential diagnosis of a low CSF glucose in children and young adultsWilhelmina G Leen, Cornelis J de Wit, Ron A Wevers, et al.
Brain & Development|April 27, 2010
First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 geneEva Lai-wah Fung, Yuan Yuan Ho, Joannie Hui, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2016
Ketogenic diet guidelines for infants with refractory epilepsyElles van der Louw, Dorine van den Hurk, Elizabeth Neal, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeMichèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
European Journal of Pediatrics|April 18, 2021
Consensus statements on the information to deliver after a febrile seizureAnna Loussouarn, Anita Devlin, Thomas Bast, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Neuropediatrics|July 26, 2022
Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of NeuropediatricsGeorgia Ramantani, Bigna K Bölsterli, Michael Alber, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Neurology|December 11, 2013
Child neurology: differential diagnosis of a low CSF glucose in children and young adultsWilhelmina G Leen, Cornelis J de Wit, Ron A Wevers, et al.
Brain & Development|April 27, 2010
First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 geneEva Lai-wah Fung, Yuan Yuan Ho, Joannie Hui, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2016
Ketogenic diet guidelines for infants with refractory epilepsyElles van der Louw, Dorine van den Hurk, Elizabeth Neal, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeMichèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
European Journal of Pediatrics|April 18, 2021
Consensus statements on the information to deliver after a febrile seizureAnna Loussouarn, Anita Devlin, Thomas Bast, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Pageof 5