COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis

Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development

Ernst Pöschl, Ursula Schlötzer‐Schrehardt, Bent Brachvogel et al. · Development · 2004 · 814 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Douglas B. Gould, F. Campbell Phalan, Saskia E. van Mil et al. · New England Journal of Medicine · 2006 · 575 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

Douglas B. Gould, F. Campbell Phalan, Guido J. Breedveld et al. · Science · 2005 · 531 citations

Life Sciences, Genetics, Neuroscience +17

<i>COL4A1</i> Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps

Emmanuelle Plaisier, Olivier Gribouval, Sonia Alamowitch et al. · New England Journal of Medicine · 2007 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Novel mutations in three families confirm a major role of <i>COL4A1</i> in hereditary porencephaly

Guido J. Breedveld · Journal of Medical Genetics · 2005 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16