PubRank

Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1

Clinical Trial ID NCT02912793

PubWeight™ 0.00‹?›

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Top papers

Rank Title Journal Year PubWeight™‹?›
1 "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975 301.74
2 Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006 6.44
3 Identification of HE1 as the second gene of Niemann-Pick C disease. Science 2000 5.08
4 Niemann-Pick disease type C. Orphanet J Rare Dis 2010 4.86
5 Capturing the patient's view of change as a clinical outcome measure. JAMA 1999 4.11
6 Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007 3.94
7 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 2012 3.19
8 Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A 2009 2.88
9 Global rating of change scales: a review of strengths and weaknesses and considerations for design. J Man Manip Ther 2009 2.59
10 Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem 1996 2.56
11 The adult form of Niemann-Pick disease type C. Brain 2006 2.33
12 Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet 2010 2.08
13 Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J Lipid Res 2007 1.99
14 2-Hydroxypropyl-beta-cyclodextrin (HP-beta-CD): a toxicology review. Food Chem Toxicol 2005 1.89
15 Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord 2007 1.58
16 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 2003 1.54
17 Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases. Dis Model Mech 2012 1.31
18 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet 1999 1.23
19 Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med 2015 1.14
20 Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations. J Lipid Res 2011 1.09
21 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet 1999 1.08
22 Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. PLoS One 2014 0.95
23 Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest 2014 0.92
24 Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology 2013 0.91
25 A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis 2015 0.91
26 Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry 2006 0.89
27 Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep 2011 0.84
28 Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear 2013 0.82
29 Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord 2003 0.78
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