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
  • [41] Morphological Alterations of the Cornea in the Mouse Model of Niemann-Pick Disease Type C1
    Hovakimyan, Marine
    Stachs, Oliver
    Reichard, Maria
    Mascher, Hermann
    Lukas, Jan
    Frech, Moritz Johannes
    Guthoff, Rudolf
    Witt, Martin
    Rolfs, Arndt
    Wree, Andreas
    CORNEA, 2011, 30 (07) : 796 - 803
  • [42] Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage
    S. Palmeri
    P. Tarugi
    F. Sicurelli
    R. Buccoliero
    A. Malandrini
    M. M. De Santi
    G. Marcianò
    C. Battisti
    M. T. Dotti
    S. Calandra
    A. Federico
    Neurological Sciences, 2005, 26 : 171 - 173
  • [43] Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1
    Meyer, Anja
    Wree, Andreas
    Guenther, Rene
    Holzmann, Carsten
    Schmitt, Oliver
    Rolfs, Arndt
    Witt, Martin
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2017, 18 (04):
  • [44] A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
    Giese, Anne-Katrin
    Mascher, Hermann
    Grittner, Ulrike
    Eichler, Sabrina
    Kramp, Guido
    Lukas, Jan
    Vruchte, Danielle Te
    Al Eisa, Nada
    Cortina-Borja, Mario
    Porter, Forbes D.
    Platt, Frances M.
    Rolfs, Arndt
    ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
  • [45] Lung involvement in Niemann-Pick disease type C1:: improvement with bronchoalveolar lavage
    Palmeri, S
    Tarugi, P
    Sicurelli, F
    Buccoliero, R
    Malandrini, A
    De Santi, MM
    Marcianò, G
    Battisti, C
    Dotti, MT
    Calandra, S
    Federico, A
    NEUROLOGICAL SCIENCES, 2005, 26 (03) : 171 - 173
  • [46] Intrathecal VTS-270 For The Treatment of Niemann-Pick Disease, Type C1
    Berry-Kravis, E.
    VanMeter, S.
    Porter, F.
    ANNALS OF NEUROLOGY, 2019, 86 : S134 - S134
  • [47] Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1
    Thurm, Audrey
    Chlebowski, Colby
    Joseph, Lisa
    Farmer, Cristan
    Adedipe, Dee
    Weiss, Madison
    Wiggs, Edythe
    Farhat, Nicole
    Bianconi, Simona
    Berry-Kravis, Elizabeth
    Porter, Forbes D.
    JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2020, 41 (05): : 388 - 396
  • [48] Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention
    Cougnoux, Antony
    Drummond, Rebecca A.
    Collar, Amanda L.
    Iben, James R.
    Salman, Alexander
    Westgarth, Harrison
    Wassif, Christopher A.
    Cawley, Niamh X.
    Farhat, Nicole Y.
    Ozato, Keiko
    Lionakis, Michail S.
    Porter, Forbes D.
    HUMAN MOLECULAR GENETICS, 2018, 27 (12) : 2076 - 2089
  • [49] Mutation analysis of feline Niemann-Pick C1 disease
    Somers, KL
    Royals, MA
    Carstea, ED
    Rafi, MA
    Wenger, DA
    Thrall, MA
    MOLECULAR GENETICS AND METABOLISM, 2003, 79 (02) : 99 - 103
  • [50] Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins
    Benussi, Alberto
    Alberici, Antonella
    Premi, Enrico
    Bertasi, Valeria
    Cotelli, Maria Sofia
    Turla, Marinella
    Dardis, Andrea
    Zampieri, Stefania
    Marchina, Eleonora
    Paghera, Barbara
    Gallivanone, Francesca
    Castiglioni, Isabella
    Padovani, Alessandro
    Borroni, Barbara
    JOURNAL OF NEUROLOGY, 2015, 262 (03) : 642 - 647