Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nicole Heussinger"'
Autor:
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose trans
Externí odkaz:
https://doaj.org/article/2fa0007690e94933a2416d2145d27364
Autor:
Franziska, Pilz, Katharina, Vill, Rainer, Rawer, Michaela, Bonfert, Moritz, Tacke, Nicole, Heussinger, Wolfgang, Müller-Felber, Astrid, Blaschek
Publikováno v:
Journal of musculoskeletalneuronal interactions. 22(4)
To establish pediatric age- and sex-specific references for measuring postural control with a mechanography plate in a single centre, prospective, normative data study.739 children and adolescents (396 male/343 female) aged 4 to 17 years were studied
Autor:
Pauline, Kosmann, Annett, Blaeser, Markus, Rochow, Hon Yiu, So, Rudolf, Ascherl, Nicole, Heußinger, Nadja, Haiden, Christoph, Fusch, Niels, Rochow
Publikováno v:
Neuropediatrics.
Bayley Scales of Infant and Toddler Development (Bayley-III) determines scaled scores and converts these into composite scores. It was shown that applying of the German and the US manual leads to different results. This study aims to systematically a
Publikováno v:
Pediatric Neurology. 67:45-52
Background The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilep
Publikováno v:
Neuropediatrics. 47:132-136
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of b
Autor:
Sofia Hermann-Alves, Robert Dalla Pozza, Jörg Klepper, Bärbel Leiendecker, Adela Della Marina, Andreas Beyerlein, Nicole Heußinger
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Nicole Heussinger, Robert Dalla Pozza, Adela Della Marina, Andreas Beyerlein, Baerbel Leiendecker, Joerg Klepper, Sofia Hermann-Alves
Publikováno v:
Clin. Nutr. 37, 2246-2251 (2018)
Background and aims: Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively by high-fat carbohydrate-restricted ketogenic diet therapies (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6534f5f9b06cdb6a55a94bf1e283cde2
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52477
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52477
Autor:
Evangelos Kontopantelis, Peter Hofstetter, Rudolf Korinthenberg, Regina Hofmann, Stephanie Karch, Martin Häussler, Sascha Meyer, Michael Karenfort, Barbara Kornek, M. Piepkorn, Jörg Klepper, Mareike Schimmel, Isabel Brecht, S. Lutz, Astrid Blaschek, Janina Gburek-Augustat, Andreas Jenke, for Grace-Ms, Martin Smitka, Robert Weissert, Nicole Heussinger, Andreas Merkenschlager, Regina Trollmann, Kevin Rostasy, Peter Weber, Thomas Lücke, Gesa Vollrath, Martin Häusler, Kirsten Wenner, Mathias Buttmann, Peter Herkenrath
Publikováno v:
Annals of Neurology. 77:1076-1082
We retrospectively evaluated predictors of conversion to multiple sclerosis (MS) in 357 children with isolated optic neuritis (ON) as a first demyelinating event who had a median follow-up of 4.0 years. Multiple Cox proportional-hazards regressions r
Publikováno v:
Neuropediatrics. 47
Publikováno v:
Movement Disorders Clinical Practice
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise‐induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d340e6c97b40954ee5909619f01a5c5e
https://www.ncbi.nlm.nih.gov/pubmed/28042592
https://www.ncbi.nlm.nih.gov/pubmed/28042592