The natural history of Niemann-Pick disease type C in the UK.

Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08

Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology (2010) 1.78

Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78

Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta (2009) 1.54

Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J Neurosci (2011) 1.50

Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis (2013) 1.38

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis (2013) 1.33

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet (2013) 1.24

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag (2009) 1.23

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J Inherit Metab Dis (2012) 1.15

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res (2009) 1.12

Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance. Hum Mol Genet (2010) 1.01

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis (2011) 1.00

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis (2012) 0.99

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis (2008) 0.98

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. J Korean Med Sci (2016) 0.96

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis (2015) 0.94

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics (2009) 0.92

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis (2014) 0.90

The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts. J Lipid Res (2008) 0.90

New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report. Iran J Pediatr (2013) 0.87

Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep (2011) 0.84

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol (2015) 0.84

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol (2013) 0.84

Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C. J Biol Chem (2014) 0.83

Sterols and sphingolipids: dynamic duo or partners in crime? Prog Lipid Res (2010) 0.83

Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. PLoS One (2011) 0.82

The Niemann-Pick C1 gene is downregulated in livers of C57BL/6J mice by dietary fatty acids, but not dietary cholesterol, through feedback inhibition of the SREBP pathway. J Nutr (2012) 0.80

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. Blood (2013) 0.79

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats? Future Lipidol (2007) 0.78

Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol (2014) 0.78

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin. Orphanet J Rare Dis (2015) 0.77

Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician. Int J Pediatr (2015) 0.76

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bull (2017) 0.75

Anesthetic Management in a Child With Niemann-Pick Disease. Iran J Pediatr (2016) 0.75

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet J Rare Dis (2014) 0.75

Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells. Brain Res (2016) 0.75

Niemann-Pick disease type C in the newborn period: a single-center experience. Eur J Pediatr (2017) 0.75

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

Niemann-Pick disease type C. Clin Genet (2003) 3.64

Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat Med (2004) 2.71

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

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr (1993) 2.32

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta (1991) 1.79

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

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis (2003) 1.52

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis (2004) 1.50

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis (2004) 1.45

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet (1994) 1.24

Progesterone blocks cholesterol translocation from lysosomes. J Biol Chem (1992) 1.20

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology (1993) 1.13

Structure and function of the NPC2 protein. Biochim Biophys Acta (2004) 1.11

Niemann-Pick disease type C in adults. J Inherit Metab Dis (2002) 0.99

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant (1999) 0.91

Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry (2006) 0.89

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. J Inherit Metab Dis (2000) 0.88

Liver disease in infancy: a 20 year perspective. Gut (1991) 0.86

Adult Niemann-Pick disease type C mimicking features of multiple sclerosis. J Neurol Neurosurg Psychiatry (1997) 0.75

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. J Inherit Metab Dis (2002) 0.75

Uncertainty in predictions of the climate response to rising levels of greenhouse gases. Nature (2005) 7.46

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

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67

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

The will and the ways: development and validation of an individual-differences measure of hope. J Pers Soc Psychol (1991) 4.55

Application and results of the Manchester Short Assessment of Quality of Life (MANSA). Int J Soc Psychiatry (1999) 3.95

Immunodeficiency in female sexual partners of men with the acquired immunodeficiency syndrome. N Engl J Med (1983) 3.67

HER-2/neu gene amplification characterized by fluorescence in situ hybridization: poor prognosis in node-negative breast carcinomas. J Clin Oncol (1997) 3.66

Suicide within 12 months of contact with mental health services: national clinical survey. BMJ (1999) 3.61

Infective endocarditis as part of psittacosis. Lancet (1971) 2.72

Spatial and temporal variation in malaria transmission in a low endemicity area in northern Tanzania. Malar J (2006) 2.65

Intravenous drug abusers and the acquired immunodeficiency syndrome (AIDS). Demographic, drug use, and needle-sharing patterns. Arch Intern Med (1985) 2.62

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology (2012) 2.53

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

Cold plasma selectivity and the possibility of a paradigm shift in cancer therapy. Br J Cancer (2011) 2.39

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

Benzo(a)pyrene diol epoxides as intermediates in nucleic acid binding in vitro and in vivo. Science (1976) 2.34

Oxygen-bridged dinuclear ruthenium amine complex specifically inhibits Ca2+ uptake into mitochondria in vitro and in situ in single cardiac myocytes. J Biol Chem (1998) 2.32

The chemical composition of the lipopolyacarideof Pseudomonas aeruginosa. Biochem J (1969) 2.26

Fc gamma RIII mediates neutrophil recruitment to immune complexes. a mechanism for neutrophil accumulation in immune-mediated inflammation. Immunity (2001) 2.23

The concerns of patients under palliative care and a heart failure clinic are not being met. Palliat Med (2001) 2.18

Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood (2000) 2.08

A polysaccharide from the human commensal Bacteroides fragilis protects against CNS demyelinating disease. Mucosal Immunol (2010) 2.02

False-negative or false-positive: laboratory diagnosis of lupus anticoagulant at the time of commencement of anticoagulant. J Thromb Haemost (2010) 1.98

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet (2002) 1.95

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

Intravenous safety and pharmacokinetics of a novel dimerizer drug, AP1903, in healthy volunteers. J Clin Pharmacol (2001) 1.91

The transformation in vitro of peripheral lymphocytes of some laboratory animals. Immunology (1965) 1.91

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis (2009) 1.89

Patients with stable long-standing rheumatoid arthritis continue to deteriorate despite intensified treatment with traditional disease modifying anti-rheumatic drugs--results of the British Rheumatoid Outcome Study Group randomized controlled clinical trial. Rheumatology (Oxford) (2005) 1.84

Distribution of genes for trimethoprim and gentamicin resistance in bacteria and their plasmids in a general hospital. J Gen Microbiol (1980) 1.84

Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. J Cell Sci (1998) 1.84

Management of mucopolysaccharidosis type III. Arch Dis Child (1993) 1.83

Wegener's granulomatosis and the heart. Br Heart J (1994) 1.82

Risk-adjusted analysis of surgeon performance: a 1-year study. Br J Surg (1995) 1.81

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

Motor vehicle crash characteristics and medical outcomes among older drivers in Utah, 1992-1995. Ann Emerg Med (2000) 1.75

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 1.72

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant (2007) 1.72

Mental disorder and clinical care in people convicted of homicide: national clinical survey. BMJ (1999) 1.71

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

Mutual suppression of mukB and seqA phenotypes might arise from their opposing influences on the Escherichia coli nucleoid structure. Mol Microbiol (1999) 1.70

Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis. Neurology (2010) 1.69

A hospital outbreak of antibiotic-resistant Acinetobacter anitratus: epidemiology and control. J Hosp Infect (1980) 1.69

p53 mutation is associated with progression in follicular lymphomas. Blood (1993) 1.69

Angina, coronary risk factors and coronary artery disease in patients with valvular disease. A prospective study. Eur Heart J (1984) 1.68

Structures of benzo(a)pyrene--nucleic acid adducts formed in human and bovine bronchial explants. Nature (1977) 1.68

Outcome data from the LEAP (Live, Eat and Play) trial: a randomized controlled trial of a primary care intervention for childhood overweight/mild obesity. Int J Obes (Lond) (2006) 1.66

Patterns of second malignant neoplasms in children. Cancer (1977) 1.65

Prospective study of early bereavement on psychological and behavioural cardiac risk factors. Intern Med J (2009) 1.61

Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol (1998) 1.59

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

A simple technique for harvesting lymphocytes cultured in Terasaki plates. J Immunol Methods (1979) 1.58

IL-5 production by bronchoalveolar lavage and peripheral blood mononuclear cells in asthma and atopy. Eur Respir J (1997) 1.58

Reduced prevalence of impaired glucose tolerance and no change in prevalence of diabetes despite increasing BMI among Aboriginal people from a group of remote homeland communities. Diabetes Care (2000) 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

Expression of HLA antigens, beta 2-microglobulin and enzymes by human amniotic epithelial cells. Nature (1982) 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

The frequency and clinical significance of specific IgE to both wasp (Vespula) and honey-bee (Apis) venoms in the same patient. Clin Exp Allergy (1998) 1.55

Coarctation of the aorta: natural history and outcome after surgical treatment. QJM (1999) 1.54

Number and activity of inflammatory cells in bronchoalveolar lavage fluid in asthma and their relation to airway responsiveness. Thorax (1988) 1.53

Relationship of p53, bcl-2, and tumor proliferation to clinical drug resistance in non-Hodgkin's lymphomas. Blood (1997) 1.52

Abdominal compartment syndrome in patients with isolated extraperitoneal injuries. J Trauma (2000) 1.52

Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia (1994) 1.52

An antiinflammatory effect of salmeterol, a long-acting beta(2) agonist, assessed in airway biopsies and bronchoalveolar lavage in asthma. Am J Respir Crit Care Med (1999) 1.51

Troger's base molecular scaffolds in dicarboxylic acid recognition. J Org Chem (2000) 1.51

Effects of human neutrophil elastase and Pseudomonas aeruginosa proteinases on human respiratory epithelium. Am J Respir Cell Mol Biol (1991) 1.50

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet (1997) 1.50

Mutation affecting thermostability of sigma subunit of Escherichia coli RNA polymerase lies near the dnaG locus at about 66 min on the E. coli genetic map. Proc Natl Acad Sci U S A (1978) 1.48

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

A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology (1997) 1.46

TNFα from classically activated macrophages accentuates epithelial to mesenchymal transition in obliterative bronchiolitis. Am J Transplant (2013) 1.46

Pyrimethamine concentrations in serum and cerebrospinal fluid during treatment of acute Toxoplasma encephalitis in patients with AIDS. J Infect Dis (1988) 1.45

First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus. Prenat Diagn (1991) 1.45

Teaching patients about kidney transplantation: documentation. Prog Transplant (2000) 1.45

Insidious endocarditis caused by Chlamydia psittaci. Br Med J (1975) 1.45

Topical nitroglycerin: a potential treatment for impotence. J Urol (1989) 1.44

A phase II trial of huperzine A in mild to moderate Alzheimer disease. Neurology (2011) 1.41

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

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis (1996) 1.40

Positron emission tomography in assessing response to neoadjuvant chemotherapy for non-small-cell lung cancer. Med J Aust (1998) 1.40

Facial appearance in glycogen storage disease type III. Clin Dysmorphol (2002) 1.40

Periplasmic chaperone recognition motif of subunits mediates quaternary interactions in the pilus. EMBO J (1998) 1.40

Severity of articular cartilage abnormality in patients with osteoarthritis: evaluation with fast spin-echo MR vs arthroscopy. AJR Am J Roentgenol (1994) 1.39

Laparoscopic cholecystectomy in surgical training. BMJ (1994) 1.39

First annual report of the New Zealand Preferred Medicines Centre 1993. N Z Med J (1993) 1.39

The evaluation of patients with human immunodeficiency virus-related disorders and brain mass lesions. Arch Intern Med (1991) 1.38

A pediatrician's view. Why do we have paranasal sinuses? Pediatr Ann (1998) 1.38

Junior doctors, nurses, and drips. BMJ (1991) 1.38

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

Benzene forms hydrogen bonds with water. Science (1992) 1.37

Improving outpatient diabetes management through a collaboration of six competing, capitated Medicare managed care plans. Am J Med Qual (2000) 1.37

Clinical trials of antibacterial agents: a practical guide to design and analysis. Statisticians in the Pharmaceutical Industry Working Party. J Antimicrob Chemother (1998) 1.37

Muramic acid is not detectable in Chlamydia psittaci or Chlamydia trachomatis by gas chromatography-mass spectrometry. Infect Immun (1990) 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

Phase II study of irinotecan and 5-fluorouracil/leucovorin in patients with primary refractory or relapsed advanced oesophageal and gastric carcinoma. Ann Oncol (2004) 1.34