Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study

Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Yukio Fukuyama, Makiko Ōsawa, Haruko Suzuki · Brain and Development · 1981 · 471 citations

Medicine, Genetics, Neurology +13

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

Medicine, Pediatrics, Ocular Disease +16

Presence of Laminin α5 Chain and Lack of Laminin α1 Chain during Human Muscle Development and in Muscular Dystrophies

Carl‐Fredrik Tiger, Marie-France Champliaud, Fátima Pedrosa Domellöf et al. · Journal of Biological Chemistry · 1997 · 207 citations · Full text

Medicine, Cell Biology, Molecular Biology +15

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

Dominique Hillaire, A. Leclerc, Sabine Fauré et al. · Human Molecular Genetics · 1994 · 199 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal

J. Philpot, Caroline A. Sewry, J.M. Pennock et al. · Neuromuscular Disorders · 1995 · 181 citations

Medicine, Genetics, Molecular Genetics +13