Stefan Buk

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 272 citations · Full text

Cell Autophagy, Mendelian Disorder, Autoimmune Disease +9

Pathology, histochemistry and immunocytochemistry of lesions in acute multiple sclerosis

C. W. M. Adams, Robin N. Poston, Stefan Buk · Journal of the Neurological Sciences · 1989 · 164 citations

Autoimmune Disease, Neurological Disorder, Immunology +10

Inflammatory vasculitis in multiple sclerosis

C. W. M. Adams, Robin N. Poston, Stefan Buk et al. · Journal of the Neurological Sciences · 1985 · 139 citations

Rheumatology, Vasculitis, Autoimmune Disease +8

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

James J. Dowling, Suzanne Lillis, Kimberley Amburgey et al. · Neuromuscular Disorders · 2011 · 111 citations

Genetics, King–denborough Syndrome, Mendelian Disorder +1

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Haiyan Zhou, Suzanne Lillis, Ryan E. Loy et al. · Neuromuscular Disorders · 2010 · 88 citations · Full text

Muscle Function, Skeletal Muscle, Physiology +8