G. Joost Jöbsis

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

G. Joost Jöbsis, H Keizers, Jeroen Vreijling et al. · Nature Genetics · 1996 · 249 citations

Rheumatology, Mendelian Disorder, Autoimmune Disease +7

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

G. Joost Jöbsis, J.M. Boers, P. G. Barth et al. · Brain · 1999 · 133 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +11

Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations

Shireen R. Lamandé, Matthias Mörgelin, Carly Selan et al. · Journal of Biological Chemistry · 2002 · 66 citations · Full text

Tissue Engineering, Genetics, Molecular Biology +22

Genetic localization of Bethlem myopathy

G. Joost Jöbsis, P. A. Bolhuis, J.M. Boers et al. · Neurology · 1996 · 44 citations

Rare Diseases, Mendelian Disorder, Bethlem Myopathy Families +10

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

G. Joost Jöbsis, Julia Weber, P. G. Barth et al. · Journal of Neurology Neurosurgery & Psychiatry · 1997 · 36 citations · Full text