Search Results - "Jöbsis, G. Joost"

Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations by Lamandé, Shireen R., Mörgelin, Matthias, Selan, Carly, Jöbsis, G. Joost, Baas, Frank, Bateman, John F.

“…Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, andCOL6A3, are the cause of the dominantly inherited disorder, Bethlem myopathy…”
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Pathogenic variants in three families with distal muscle involvement by Weterman, Marian A.J., Bronk, Marieke, Jongejan, Aldo, Hoogendijk, Jessica E., Krudde, Judith, Karjosukarso, Dyah, Goebel, Hans H., Aronica, Eleonora, Jöbsis, G. Joost, van Ruissen, Fred, van Spaendonck-Zwarts, Karin Y., de Visser, Marianne, Baas, Frank

“…•Identification of the cause of disease in three large families with distal muscle involvement.•MYH7 tail mutations cause a neuropathy-like phenotype.•MYH7…”
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Complications corner: Anterior thoracic disc surgery with dural tear/CSF fistula and low-pressure pleural drain led to severe intracranial hypotension by Kruyt, NyikaD, Arts, MarkP, Jöbsis, G.Joost, Oudeman, ElineA, Nandoe Tewarie, RishiD. S.

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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures by Jöbsis, G. Joost, Keizers, H, Vreijling, Jeroen P, Visser, Marianne de, Speer, Marcy C, Wolterman, Ruud A, Baas, Frank, Bolhuis, Pieter A

“…Among the diverse family of collagens, the widely expressed microfibrillar type VI collagen is believed to play a role in bridging cells with the extracellular…”
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Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37 by Speer, Marcy C., Tandan, Rup, Rao, Nagesh P., Fries, Timothy, Stajich, Jeffrey M., Bolhuis, Pieter A., Jöbsis, G. Joost, Vance, Jeffery M., Viles, Kristi D., Sheffield, Karen, James, Christi, Kahler, Stephen G., Pettenati, Mark, Gilbert, John R., Denton, Peter H., Yamaoka, Larry H., Pericak-Vance, Margaret A.

“…The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families…”
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