Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anne Drenckhahn"'
Autor:
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise Ernould, Marie-Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer-Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R. Lupski, Daniel G. Calame, David Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud
Publikováno v:
The DDD study 2023, ' Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta ', Genetics in Medicine, vol. 25, no. 8, 100856 . https://doi.org/10.1016/j.gim.2023.100856
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. He
Publikováno v:
Neuropediatrics. 48:S1-S45
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 20(6)
Lyme neuroborreliosis is a frequent cause of facial nerve palsy in children, isolated oculomotor nerve palsy due to Borrelia-associated nervous system infection however is rarely seen. Here we report a case of isolated oculomotor nerve palsy due to a
Publikováno v:
European journal of cell biology. 78(9)
Regulated secretion requires the formation of a fusion complex consisting of synaptobrevin, syntaxin and SNAP 25. One of these key proteins, synaptobrevin, also complexes with the vesicle protein synaptophysin. The fusion complex and the synaptophysi
Autor:
Gudrun Ahnert-Hilger, Reinhard Jahn, Martin Margittai, Anne Drenckhahn, Ingrid Pahner, Anja Becher
Publikováno v:
Europe PubMed Central
Exocytosis of synaptic vesicles requires the formation of a fusion complex consisting of the synaptic vesicle protein synaptobrevin (vesicle-associated membrane protein, or VAMP) and the plasma membrane proteins syntaxin and soluble synaptosomal-asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3915f6b422b91896a4ade7f1f5717f09
http://europepmc.org/abstract/med/10066245
http://europepmc.org/abstract/med/10066245