Phenotypic expression of swallowing function in Niemann–Pick disease type C1

被引:0
|
作者
Beth I. Solomon
Andrea M. Muñoz
Ninet Sinaii
Nicole M. Farhat
Andrew C. Smith
Simona Bianconi
An Dang Do
Michael C. Backman
Leonza Machielse
Forbes D. Porter
机构
[1] National Institutes of Health,Speech
[2] National Institutes of Health,Language Pathology Section, Mark O. Hatfield Clinical Center
[3] National Institutes of Health,Eunice Kennedy Shriver National Institute of Child Health and Human Development
[4] Biostatician,Biostatistics and Clinical Epidemiology Service, NIH Clinical Center
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target
    Cougnoux, A.
    Cluzeau, C.
    Mitra, S.
    Li, R.
    Williams, I.
    Burkert, K.
    Xu, X.
    Wassif, C. A.
    Zheng, W.
    Porter, F. D.
    CELL DEATH & DISEASE, 2016, 7 : e2147 - e2147
  • [22] Aberrant phosphorylation of α-synuclein in human Niemann-Pick type C1 disease
    Saito, Y
    Suzuki, K
    Hulette, CM
    Murayama, S
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2004, 63 (04): : 323 - 328
  • [23] Gene Therapy Moves Forward for Niemann-Pick Disease Type C1
    McIvor, R. Scott
    HUMAN GENE THERAPY, 2021, 32 (11-12) : 540 - 540
  • [24] Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1
    Cologna, Stephanie M.
    Cluzeau, Celine V. M.
    Yanjanin, Nicole M.
    Blank, Paul S.
    Dail, Michelle K.
    Siebel, Stephan
    Toth, Cynthia L.
    Wassif, Christopher A.
    Lieberman, Andrew P.
    Porter, Forbes D.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (01) : 83 - 92
  • [25] Niemann-Pick disease type C1 presenting with psychosis in an adolescent male
    Sandu, Sabine
    Jackowski-Dohrmann, Sabine
    Ladner, Axel
    Haberhausen, Michael
    Bachmann, Christian
    EUROPEAN CHILD & ADOLESCENT PSYCHIATRY, 2009, 18 (09) : 583 - 585
  • [26] Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
    Mishra, Sonali
    Kell, Pamela
    Scherrer, David
    Dietzen, Dennis J.
    Vite, Charles H.
    Berry-Kravis, Elizabeth
    Davidson, Cristin
    Cologna, Stephanie M.
    Porter, Forbes D.
    Ory, Daniel S.
    Jiang, Xuntian
    JOURNAL OF LIPID RESEARCH, 2024, 65 (08)
  • [27] Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1
    Cougnoux, Antony
    Yerger, Julia C.
    Fellmeth, Mason
    Serra-Vinardell, Jenny
    Wassif, Christopher A.
    Cawley, Niamh X.
    Porter, Forbes D.
    MOLECULAR GENETICS AND METABOLISM, 2020, 131 (03) : 364 - 366
  • [28] CffDNA screening for Niemann-pick disease, type C1: a case series
    Lau, Sydney A.
    Fawaz, Romy I.
    Rigobello, Robert
    Bawazeer, Shahad
    Alajaji, Nouf M.
    Faqeih, Eissa
    Li, Yanchun
    Feng, Yanming
    Xia, Fan
    Eng, Christine M.
    Abedalthagafi, Malak
    FRONTIERS IN MEDICINE, 2024, 11
  • [29] Niemann-Pick disease type C1 causes early decline in olfaction
    Dibattista, Michele
    Scheiblin, David A.
    Kuboki, Akihito
    Yee, Karen K.
    Reisert, Johannes
    CHEMICAL SENSES, 2019, 44 (03) : E51 - E52
  • [30] Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
    Hovakimyan, Marina
    Meyer, Anja
    Lukas, Jan
    Luo, Jiankai
    Gudziol, Volker
    Hummel, Thomas
    Rolfs, Arndt
    Wree, Andreas
    Witt, Martin
    PLOS ONE, 2013, 8 (12):