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Acta Neuropathologica Communications|June 28, 2025
Co-occurrence of myositis and neuropathy after anti-CD30 therapy in a late-adolescent Hodgkin lymphoma patientAdela Della Marina, Lydia Rink, Andreas Hentschel, et al.
Journal of Cellular and Molecular Medicine|April 23, 2024
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkersMohammed Athamneh, Nassam Daya, Andreas Hentschel, et al.
Neurobiology of Disease|November 24, 2018
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and humanVietxuan Phan, Dan Cox, Silvia Cipriani, et al.
Acta Neuropathologica|March 12, 2024
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophyAndreas Roos, Linda-Isabell Schmitt, Christina Hansmann, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2009
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous systemEstelle Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, et al.
Cells|December 24, 2021
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i>Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, et al.
American Journal of Medical Genetics. Part A|January 11, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal studyAndrea Gangfuß, Gökhan Yigit, Janine Altmüller, et al.
Archives of Gynecology and Obstetrics|May 17, 2013
Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidiesAndreas Roos, Constantin S von Kaisenberg, Thomas Eggermann, et al.
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