Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz, Christian; Hathazi, Denisa; Münchberg, Ute; Buchkremer, Stephan; Labisch, Thomas; Munro, Ben; Horvath, Rita; Töpf, Ana; Weis, Joachim; Roos, Andreas

Gatz, Christian; Hathazi, Denisa; Münchberg, Ute; Buchkremer, Stephan; Labisch, Thomas; Munro, Ben; Horvath, Rita; Töpf, Ana; Weis, Joachim; Roos, Andreas.

Afiliación

Gatz C; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
Hathazi D; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
Münchberg U; Department of Clinical Neuroscience, University of Cambridge, Cambridge, United Kingdom.
Buchkremer S; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
Labisch T; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
Munro B; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
Horvath R; Department of Clinical Neuroscience, University of Cambridge, Cambridge, United Kingdom.
Töpf A; Department of Clinical Neuroscience, University of Cambridge, Cambridge, United Kingdom.
Weis J; International Centre for Life, Institute of Genetic Medicine, Newcastle upon Tyne, United Kingdom.
Roos A; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.

Front Neurol ; 10: 562, 2019.

Article en En | MEDLINE | ID: mdl-31258504

Palabras clave

FAM134B; Marinesco-Sjögren syndrome biomarkers; POC1A; SIL1 missense mutation; SIL1-interactome; centrosome

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Neurol Año: 2019 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza

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