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
来源：
Orphanet Journal of Rare Diseases | / 17卷
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
  • [31] Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins
    Alberto Benussi
    Antonella Alberici
    Enrico Premi
    Valeria Bertasi
    Maria Sofia Cotelli
    Marinella Turla
    Andrea Dardis
    Stefania Zampieri
    Eleonora Marchina
    Barbara Paghera
    Francesca Gallivanone
    Isabella Castiglioni
    Alessandro Padovani
    Barbara Borroni
    Journal of Neurology, 2015, 262 : 642 - 647
  • [32] DISRUPTION OF AUTOPHAGY IN A HUMAN MODEL OF NIEMANN PICK TYPE C1
    Ordonez, Maria P.
    HEPATOLOGY, 2011, 54 : 958A - 958A
  • [33] Protriptyline and Severe Cataplexy in Niemann-Pick Type C1
    Berry-Kravis, E.
    Seinfeld, S.
    Chin, J.
    Friedmann, K.
    O'Hara, K.
    ANNALS OF NEUROLOGY, 2018, 84 : S400 - S400
  • [34] Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1
    Speak, Anneliese O.
    Vruchte, Danielle te
    Davis, Lianne C.
    Morgan, Anthony J.
    Smith, David A.
    Yanjanin, Nicole M.
    Simmons, Louise
    Hartung, Ralf
    Runz, Heiko
    Mengel, Eugen
    Beck, Michael
    Imrie, Jackie
    Jacklin, Elizabeth
    Wraith, James E.
    Hendriksz, Christian
    Lachmann, Robin
    Cognet, Celine
    Sidhu, Rohini
    Fujiwara, Hideji
    Ory, Daniel S.
    Galione, Antony
    Porter, Forbes D.
    Vivier, Eric
    Platt, Frances M.
    BLOOD, 2014, 123 (01) : 51 - 60
  • [35] Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1
    Fu, Rao
    Yanjanin, Nicole M.
    Elrick, Matthew J.
    Ware, Christopher
    Lieberman, Andrew P.
    Porter, Forbes D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) : 2775 - 2780
  • [36] Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
    Laura L. Baxter
    Dawn E. Watkins-Chow
    Nicholas L. Johnson
    Nicole Y. Farhat
    Frances M. Platt
    Ryan K. Dale
    Forbes D. Porter
    William J. Pavan
    Jorge L. Rodriguez-Gil
    Scientific Reports, 12
  • [37] mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts
    Furtado, Denzil
    Cortez-Jugo, Christina
    Hung, Ya Hui
    Bush, Ashley I.
    Caruso, Frank
    MOLECULAR PHARMACEUTICS, 2022, 19 (11) : 3987 - 3999
  • [38] The Role of the Niemann-Pick Disease, Type C1 Protein in Adipocyte Insulin Action
    Fletcher, Rachael
    Gribben, Christopher
    Ma, Xuiquan
    Burchfield, James G.
    Thomas, Kristen C.
    Krycer, James R.
    James, David E.
    Fazakerley, Daniel J.
    PLOS ONE, 2014, 9 (04):
  • [39] A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
    Anne-Katrin Giese
    Hermann Mascher
    Ulrike Grittner
    Sabrina Eichler
    Guido Kramp
    Jan Lukas
    Danielle te Vruchte
    Nada Al Eisa
    Mario Cortina-Borja
    Forbes D Porter
    Frances M Platt
    Arndt Rolfs
    Orphanet Journal of Rare Diseases, 10
  • [40] Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella
    Cougnoux, Antony
    Yerger, Julia C.
    Fellmeth, Mason
    Serra-Vinardell, Jenny
    Martin, Kyle
    Navid, Fatemeh
    Iben, James
    Wassif, Christopher A.
    Cawley, Niamh X.
    Porter, Forbes D.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (15) : 1 - 23
12345