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Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers

Autor: Yilmaz, Rüstem, Grehl, Torsten, Eckrich, Lukas, Marschalkowski, Ines, Weishaupt, Kanchi, Valkadinov, Ivan, Simic, Melita, Brenner, David, Andersen, Peter M., Wolf, Joachim, Weishaupt, Jochen H.

Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63957440cb49f6d7099ecd8c64b59017
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204513

Pictorial representation of trachea anatomy - misleading symbolism

Autor: Cherneva, Desislava, Valkadinov, Ivan, Sapundzhiev, Nikolay, Tonchev, Anton

Publikováno v: GMS Current Posters in Otorhinolaryngology-Head and Neck Surgery; VOL: 13; DOC303 /20170426/
88. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf-und Hals-Chirurgie; 20170524-20170527; Erfurt; DOC17hno007 /20170413/

The cartilaginous skeleton of the trachea shows vast variations in its structure. These structural alterations encompass both the form and number of cartilaginous rings as well as the junctions between them. This anatomical feature seems to be freque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b4c723970df39f8415e37161d46073
http://nbn-resolving.de/urn:nbn:de:0183-cpo0018575

Tofersen decreases neurofilament levels supporting the pathogenesis of the SOD1 p.D91A variant in amyotrophic lateral sclerosis patients.

Autor: Weishaupt JH; Division of Neurodegenerative Disorders, Neurological University Clinic Mannheim, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany. jochen.weishaupt@medma.uni-heidelberg.de., Körtvélyessy P; Charité - Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Center for ALS and other Motor Neuron Disorders, Berlin, Germany.; German Center for Neurodegenerative Diseases (DZNE), Research Site Magdeburg, Magdeburg, Germany., Schumann P; Ambulanzpartner Soziotechnologie APST GmbH, Berlin, Germany., Valkadinov I; Division of Neurodegenerative Disorders, Neurological University Clinic Mannheim, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany., Weyen U; Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil, Department of Neurology, Center for ALS and other Motor Neuron Disorders, Bochum, Germany., Hesebeck-Brinckmann J; Division of Neurodegenerative Disorders, Neurological University Clinic Mannheim, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany., Weishaupt K; Division of Neurodegenerative Disorders, Neurological University Clinic Mannheim, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany., Endres M; Charité - Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Center for ALS and other Motor Neuron Disorders, Berlin, Germany., Andersen PM; Department of Clinical Sciences, Neuroscience, Umeå University, Umeå, Sweden., Regensburger M; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Deutsches Zentrum Immuntherapie (DZI), University Hospital Erlangen, Erlangen, Germany., Dreger M; Charité - Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Center for ALS and other Motor Neuron Disorders, Berlin, Germany., Koch JC; Clinic for Neurology, University Medicine Göttingen, Göttingen, Germany., Conrad J; Division of Neurodegenerative Disorders, Neurological University Clinic Mannheim, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany., Meyer T; Charité - Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Center for ALS and other Motor Neuron Disorders, Berlin, Germany. thomas.meyer@charite.de.; Ambulanzpartner Soziotechnologie APST GmbH, Berlin, Germany. thomas.meyer@charite.de.

Publikováno v: Communications medicine [Commun Med (Lond)] 2024 Jul 25; Vol. 4 (1), pp. 150. Date of Electronic Publication: 2024 Jul 25.