Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Autor: Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

Abstract Background Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The

Externí odkaz: https://doaj.org/article/23370ecb154343929b185a6fd1033613

Einzelreferate und Buchbesprechungen

Autor: His, Temkin, Fischer, W., Jonas, Oberniedermayr, Eisner-Behrend, Koenigsfeld, Schmitz, Nonnenbruch, Oppenheimer, Kleinschmidt, Weigert, Eckstein, Jaschke, v., Jacobsohn, Schumacher, Gottschalk, Langer, Erich, Buschke, Finkenrath, Halberstaedter, Valentin, B., Valentin, Simon, Herzfeld, Cohn, Mendel, Friedemann, Lipschitz, Goldstein, Erkrankungen, Wohlwill, Riebeling

Publikováno v: Journal of Molecular Medicine; August 1930, Vol. 9 Issue: 32 p1513-1519, 7p

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Autor: Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam

Publikováno v: European journal of medical genetics, 66(7):104754. Elsevier Masson SAS
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩

International audience; Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of Eu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f86e321faa2747a743e5105b4d414b
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html

Immunological causes of obsessive-compulsive disorder: is it time for the concept of an 'autoimmune OCD' subtype?

Autor: Dominique Endres, Thomas A. Pollak, Karl Bechter, Dominik Denzel, Karoline Pitsch, Kathrin Nickel, Kimon Runge, Benjamin Pankratz, David Klatzmann, Ryad Tamouza, Luc Mallet, Marion Leboyer, Harald Prüss, Ulrich Voderholzer, Janet L. Cunningham, ECNP Network Immuno-NeuroPsychiatry, Katharina Domschke, Ludger Tebartz van Elst, Miriam A. Schiele

Publikováno v: Translational Psychiatry
Translational Psychiatry, 2022, 12 (1), pp.5. ⟨10.1038/s41398-021-01700-4⟩
Translational Psychiatry, Nature Pub. Group, 2022, 12 (1), pp.5. ⟨10.1038/s41398-021-01700-4⟩
Translational Psychiatry, Vol 12, Iss 1, Pp 1-14 (2022)
Translational Psychiatry 12(1), 5 (2022). doi:10.1038/s41398-021-01700-4

Obsessive-compulsive disorder (OCD) is a highly disabling mental illness that can be divided into frequent primary and rarer organic secondary forms. Its association with secondary autoimmune triggers was introduced through the discovery of Pediatric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d00925513be1fea7f35468c3030db6f
https://doi.org/10.1038/s41398-021-01700-4

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

Autor: Scekic-Zahirovic, Jelena, Sanjuan-Ruiz, Inmaculada, Kan, Vanessa, Megat, Salim, De Rossi, Pierre, Dieterlé, Stéphane, Cassel, Raphaelle, Jamet, Marguerite, Kessler, Pascal, Wiesner, Diana, Tzeplaeff, Laura, Demais, Valérie, Sahadevan, Sonu, Hembach, Katharina M, Muller, Hans-Peter, Picchiarelli, Gina, Mishra, Nibha, Antonucci, Stefano, Dirrig-Grosch, Sylvie, Kassubek, Jan, Rasche, Volker, Ludolph, Albert, Boutillier, Anne-Laurence, Roselli, Francesco, Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Liebscher, Sabine, Dupuis, Luc

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.3028. ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications 12(1), 3028 (2021). doi:10.1038/s41467-021-23187-9
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, 2021, 12 (1), pp.3028. ⟨10.1038/s41467-021-23187-9⟩

Gene mutations causing cytoplasmic mislocalization of the RNA-binding protein FUS lead to severe forms of amyotrophic lateral sclerosis (ALS). Cytoplasmic accumulation of FUS is also observed in other diseases, with unknown consequences. Here, we sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c8536f94d17455134cebd44e2729e13b
https://www.hal.inserm.fr/inserm-03376335