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Biochimica Et Biophysica Acta|January 20, 1998
Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organizationN Sakai, H Fukushima, K Inui, et al.Biochemical and Biophysical Research Communications|January 28, 1994
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidaseN Sakai, K Inui, N Fujii, et al.American Journal of Medical Genetics|July 1, 1993
Case of ring chromosome 7: the first report of neuropathological findingsH Tsukamoto, N Sakai, M Taniike, et al.Acta Neuropathologica|January 1, 1986
Pathological study on a severe sialidosis (alpha-neuraminidase deficiency)T Yamano, M Shimada, K Matsuzaki, et al.Prenatal Diagnosis|February 17, 2001
SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type CH Tsukamoto, T Yamamoto, T Nishigaki, et al.Acta Neuropathologica|January 1, 1983
Ultrastructural study on nervous system of fetus with GM1-gangliosidosis type 1T Yamano, M Shimada, S Okada, et al.Acta Neuropathologica|January 1, 1993
Nephrosialidosis: ultrastructural and lectin histochemical studyK Toyooka, H Fujimura, H Yoshikawa, et al.The Journal of Biological Chemistry|July 22, 1994
Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genesJ Hayashi, S Ohta, Y Kagawa, et al.Brain & Development|July 1, 1992
A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomyH Tsukamoto, K Inui, M Taniike, et al.Annals of Neurology|March 1, 1992
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patientsK Yoshida, A Oshima, H Sakuraba, et al.Pageof 210