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Pigment Cell & Melanoma Research|May 9, 2009
Frequent mutations in the MITF pathway in melanomaJulia C Cronin, John Wunderlich, Stacie K Loftus, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Disease Models & Mechanisms|January 31, 2020
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1Jorge L Rodriguez-Gil, Dawn E Watkins-Chow, Laura L Baxter, et al.
The Journal of Biological Chemistry|October 5, 2012
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disordersMiao Xu, Ke Liu, Manju Swaroop, et al.
Plos One|March 29, 2016
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseElena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, et al.
Disease Models & Mechanisms|August 3, 2016
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher diseaseWendy Westbroek, Matthew Nguyen, Marina Siebert, et al.
Plos Genetics|February 6, 2013
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypesDawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, et al.
Current Topics in Medicinal Chemistry|November 29, 2013
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 diseaseElizabeth A Ottinger, Mark L Kao, Nuria Carrillo-Carrasco, et al.
BMC Genetics|July 19, 2019
Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populationsFrida Lona-Durazo, Natalia Hernandez-Pacheco, Shaohua Fan, et al.
Lancet (London, England)|August 15, 2017
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trialDaniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, et al.
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