Sphinolipids of human skeletal muscle.

Experimental autoimmune neuropathy with anti-GM1 antibodies and immunoglobulin deposits at the nodes of Ranvier. Acta Neuropathol (1991) 1.04

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66

Identification of HE1 as the second gene of Niemann-Pick C disease. Science (2000) 5.08

Tissue receptor for cholera exotoxin: postulated structure from studies with GM1 ganglioside and related glycolipids. Infect Immun (1973) 4.08

A procedure for the quantitative isolation of brain gangliosides. Biochim Biophys Acta (1980) 2.63

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem (1999) 2.45

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A (1985) 2.38

Rat liver and kidney contain high densities of sigma 1 and sigma 2 receptors: characterization by ligand binding and photoaffinity labeling. Eur J Pharmacol (1994) 2.29

Interaction of cholera toxin and membrane GM1 ganglioside of small intestine. Proc Natl Acad Sci U S A (1975) 2.18

Rabbit intestinal glycoprotein receptor for Escherichia coli heat-labile enterotoxin lacking affinity for cholera toxin. Infect Immun (1982) 2.08

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. J Lipid Res (1980) 1.93

Fixation and inactivation of cholera toxin by GM1 ganglioside. Scand J Infect Dis (1973) 1.90

Receptor-specific large-scale purification of cholera toxin on silica beads derivatized with lysoGM1 ganglioside. Eur J Biochem (1981) 1.89

The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis (2006) 1.87

Distribution and fatty acid composition of phosphoglycerides in normal human brain. J Lipid Res (1968) 1.83

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A (1999) 1.79

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol (2009) 1.76

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem (1982) 1.72

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet (1996) 1.70

Monoclonal antibodies against gastrointestinal tumour-associated antigens isolated as monosialogangliosides. Int Arch Allergy Appl Immunol (1983) 1.67

Ultrastructural localization of cell membrane GM1 ganglioside by cholera toxin. Proc Natl Acad Sci U S A (1977) 1.61

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci (2006) 1.58

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet (1999) 1.57

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc Natl Acad Sci U S A (1988) 1.56

Quantification of organ motion during conformal radiotherapy of the prostate by three dimensional image registration. Int J Radiat Oncol Biol Phys (1995) 1.49

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med (1998) 1.47

Growth hormone treatment affects brain neurotransmitters and thyroxine [see comment]. Clin Endocrinol (Oxf) (1996) 1.46

Specific gangliosides function as host cell receptors for Sendai virus. Proc Natl Acad Sci U S A (1981) 1.45

Gangliosides and allied glycosphingolipids in human peripheral nerve and spinal cord. Biochim Biophys Acta (1994) 1.44

Absence of hexosaminidase A and B in a normal adult. N Engl J Med (1975) 1.43

Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem (1986) 1.41

Cerebrospinal fluid monoamine metabolites and atmospheric pressure. Biol Psychiatry (1996) 1.39

Establishing safe and effective antithrombotic therapy use in children.....finally. Thromb Res (2012) 1.39

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet (2001) 1.38

A double-blind evaluation of electroconvulsive therapy in Parkinson's disease with "on-off" phenomena. Acta Neurol Scand (1987) 1.36

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis (2005) 1.36

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet (2001) 1.34

Human brain gangliosides: developmental changes from early fetal stage to advanced age. Biochim Biophys Acta (1989) 1.34

Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease. Am J Hum Genet (1983) 1.33

Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci U S A (1993) 1.33

Comparative trial of L-tryptophan and amitriptyline in depressive illness. Psychol Med (1976) 1.32

Detection by monoclonal antibody of carbohydrate antigen CA 50 in serum of patients with carcinoma. Br Med J (Clin Res Ed) (1984) 1.31

Blood-brain barrier disturbance in patients with Alzheimer's disease is related to vascular factors. Acta Neurol Scand (1990) 1.29

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology (2006) 1.28

Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem (1986) 1.27

Sendai virus receptor: proposed recognition structure based on binding to plastic-adsorbed gangliosides. Proc Natl Acad Sci U S A (1980) 1.27

p53 induction is associated with neuronal damage in the central nervous system. Proc Natl Acad Sci U S A (1994) 1.27

Sialosyllactotetraosylceramide, a novel ganglioside antigen detected in human carcinomas by a monoclonal antibody. FEBS Lett (1985) 1.26

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta (1983) 1.25

Structure of the major glucosamine-containing ganglioside of human tissues. J Biol Chem (1973) 1.25

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum Mol Genet (1997) 1.24

The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein. J Biol Chem (2000) 1.23

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet (1999) 1.23

Campylobacter enteritis associated with foodborne transmission. Am J Epidemiol (1982) 1.22

A prospective study of association of monounsaturated fat and other types of fat with risk of breast cancer. Arch Intern Med (1998) 1.22

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet (1985) 1.21

A comparison of GluR-A-deficient and wild-type mice on a test battery assessing sensorimotor, affective, and cognitive behaviors. Behav Neurosci (2004) 1.20

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet (2000) 1.19

Polystyrene-adsorbed gangliosides for investigation of the structure of the tetanus-toxin receptor. Eur J Biochem (1980) 1.19

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet (2007) 1.18

Body composition. Prediction of normal body potassium, body water and body fat in adults on the basis of body height, body weight and age. Scand J Clin Lab Invest (1980) 1.18

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet (2001) 1.18

Depletion of rafts in late endocytic membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane. J Cell Sci (2001) 1.17

Changes in the fatty acid composition of cerebrosides and sulfatides of human nervous tissue with age. J Lipid Res (1968) 1.17

Developmental profiles of gangliosides in human and rat brain. J Neurochem (1971) 1.17

Comparison of receptors for cholera and Escherichia coli enterotoxins in human intestine. Gastroenterology (1985) 1.17

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease. Clin Genet (1985) 1.16

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. Hum Mol Genet (2000) 1.14

Gangliosides of human, bovine and rabbit retina. Biochim Biophys Acta (1972) 1.14

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Acta Neuropathol (1984) 1.14

Protein analysis in cerebrospinal fluid. II. Reference values derived from healthy individuals 18-88 years of age. Eur Neurol (1993) 1.13

Chemical structure of carcinoma ganglioside antigens defined by monoclonal antibody C-50 and some allied gangliosides of human pancreatic adenocarcinoma. Biochim Biophys Acta (1985) 1.13

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta (1994) 1.12

Splenic transplantation in a case of Gaucher's disease. Lancet (1971) 1.12

Comparative trial of L-tryptophan and E.C.T. in severe depressive illness. Lancet (1974) 1.11

Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B. Neurochem Res (1999) 1.10

A sulfated glucosylceramide from rat kidney. J Biol Chem (1989) 1.10

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet (2001) 1.10

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet (2005) 1.09

Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet (1986) 1.09

Separation of gangliosides on a new type of anion-exchange resin. Biochim Biophys Acta (1980) 1.08

Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. Dev Neurosci (1991) 1.08

Gangliosides as receptors for bacterial toxins and Sendai virus. Adv Exp Med Biol (1980) 1.07

Salen-manganese complexes are superoxide dismutase-mimics. Biochem Biophys Res Commun (1993) 1.07

Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation (1995) 1.07

Seasonal and circadian monoamine variations in human brains examined post mortem. Acta Psychiatr Scand Suppl (1980) 1.07

Receptor ganglioside content of three hosts for Sendai virus. MDBK, HeLa, and MDCK cells. Biochim Biophys Acta (1984) 1.06

Isolation and structural determination of a novel ganglioside, a disialosylpentahexosylceramide from human brain. J Biol Chem (1973) 1.06

Blood brain barrier function in vascular dementia. Acta Neurol Scand (1990) 1.06