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Human Molecular Genetics|September 26, 2000
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophyR Herrmann, V Straub, M Blank, et al.Neuropediatrics|January 4, 2005
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizuresG Mirzaa, N N Dodge, I Glass, et al.American Journal of Human Genetics|March 21, 2000
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42M Brockington, C A Sewry, R Herrmann, et al.Neuromuscular Disorders : NMD|March 1, 1995
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin geneR E Bittner, S Shorny, R Ferlings, et al.Human Molecular Genetics|August 15, 2000
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosisU Kornak, A Schulz, W Friedrich, et al.Neuropediatrics|May 1, 1988
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosisT Voit, O Krogmann, H G Lenard, et al.Neuropediatrics|October 12, 2005
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectivelyJ Klepper, H Scheffer, B Leiendecker, et al.Neuromuscular Disorders : NMD|January 1, 1992
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy geneW Kress, E Müller, K Kausch, et al.Annals of the New York Academy of Sciences|March 27, 1995
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin geneW M Franz, M Cremer, R Herrmann, et al.Neuropediatrics|February 1, 1996
Neurosensory hearing loss in secondary adhalinopathyK Oexle, R Herrmann, C Dodé, et al.Pageof 18