Literature DB >> 1952618

Audiologic profile in Niemann-Pick C.

A Pikus1.   

Abstract

Mesh:

Year:  1991        PMID: 1952618     DOI: 10.1111/j.1749-6632.1991.tb19618.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN: 0077-8923            Impact factor:   5.691


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  6 in total

1.  A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Authors:  Robert A Maue; Robert W Burgess; Bing Wang; Christine M Wooley; Kevin L Seburn; Marie T Vanier; Maximillian A Rogers; Catherine C Chang; Ta-Yuan Chang; Brent T Harris; David J Graber; Carlos A A Penatti; Donna M Porter; Benjamin S Szwergold; Leslie P Henderson; John W Totenhagen; Theodore P Trouard; Ivan A Borbon; Robert P Erickson
Journal:  Hum Mol Genet       Date:  2011-11-02       Impact factor: 6.150

2.  Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

Authors:  Kelly A King; Sandra Gordon-Salant; Karen S Pawlowski; Anna M Taylor; Andrew J Griffith; Ari Houser; Kiyoto Kurima; Christopher A Wassif; Charles G Wright; Forbes D Porter; Joyce J Repa; Carmen C Brewer
Journal:  J Assoc Res Otolaryngol       Date:  2014-05-17

3.  Auditory phenotype of Niemann-Pick disease, type C1.

Authors:  Kelly A King; Sandra Gordon-Salant; Nicole Yanjanin; Christopher Zalewski; Ari Houser; Forbes D Porter; Carmen C Brewer
Journal:  Ear Hear       Date:  2014 Jan-Feb       Impact factor: 3.570

4.  Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Authors:  Daniel S Ory; Elizabeth A Ottinger; Nicole Yanjanin Farhat; Kelly A King; Xuntian Jiang; Lisa Weissfeld; Elizabeth Berry-Kravis; Cristin D Davidson; Simona Bianconi; Lee Ann Keener; Ravichandran Rao; Ariane Soldatos; Rohini Sidhu; Kimberly A Walters; Xin Xu; Audrey Thurm; Beth Solomon; William J Pavan; Bernardus N Machielse; Mark Kao; Steven A Silber; John C McKew; Carmen C Brewer; Charles H Vite; Steven U Walkley; Christopher P Austin; Forbes D Porter
Journal:  Lancet       Date:  2017-08-10       Impact factor: 202.731

Review 5.  Cyclodextrins and Iatrogenic Hearing Loss: New Drugs with Significant Risk.

Authors:  Mark A Crumling; Kelly A King; R Keith Duncan
Journal:  Front Cell Neurosci       Date:  2017-11-08       Impact factor: 5.505

Review 6.  Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.

Authors:  Alberto Benussi; Maria Sofia Cotelli; Alessandro Padovani; Barbara Borroni
Journal:  F1000Res       Date:  2018-02-15
  6 in total

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