Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

被引:0
|
作者
Richard Bergholz
Alfried Kohlschütter
Angela Schulz
Waltraud Hubert
Klaus Rüther
机构
[1] Charité – Universitätsmedizin Berlin,Department of Ophthalmology
[2] University Medical Center Eppendorf,Children’s Hospital
[3] Sankt Gertrauden-Krankenhaus,Department of Ophthalmology
[4] Charité Augenklinik Campus Virchow-Klinikum,undefined
关键词
Neuronal ceroid lipofuscinosis; CLN3; Batten disease; Electroretinography; Optical coherence tomography;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1245 / 1250
页数:5
相关论文
共 50 条
  • [1] Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations
    Bergholz, Richard
    Kohlschuetter, Alfried
    Schulz, Angela
    Hubert, Waltraud
    Ruether, Klaus
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2015, 253 (08) : 1245 - 1250
  • [2] Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis
    Oetjen, Sandra
    Kuhl, Dietmar
    Hermey, Guido
    JOURNAL OF NEUROCHEMISTRY, 2016, 139 (03) : 456 - 470
  • [3] Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
    Ouseph, Madhu M.
    Kleinman, Mark E.
    Wang, Qing Jun
    TARGETING THE LYSOSOME, 2016, 1371 : 55 - 67
  • [4] JUVENILE NEURONAL CEROID LIPOFUSCINOSIS IN A PATIENT WITH COMPOUND HETEROZYGOUS CLN3 MUTATIONS: A 9-YEAR FOLLOW-UP
    Al-Thihli, K.
    Matsuba, C.
    Roland, E.
    Stockler-Ipsiroglu, S.
    Mercimek-Mahmutoglu, S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S149 - S149
  • [5] Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
    Borgione, Eugenia
    Castello, Filippa
    Lo Giudice, Mariangela
    Paola, Sandro Santa
    Salvatore, Simona
    Berti, Gianna
    Malandrini, Alessandro
    Bottitta, Maria
    Musumeci, Sebastiano Antonino
    Scuderi, Carmela
    NEUROLOGICAL SCIENCES, 2016, 37 (05) : 805 - 807
  • [6] Intravenous administration of CLN3 gene therapy for juvenile neuronal ceroid lipofuscinosis
    Kerns, Scott
    Daum, J.
    Bosch, M.
    Fallet, R.
    Odvody, J.
    Henson, Kari
    Spratt, Kaye
    Kielian, Tammy
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S77 - S77
  • [7] Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
    Eugenia Borgione
    Filippa Castello
    Mariangela Lo Giudice
    Sandro Santa Paola
    Simona Salvatore
    Gianna Berti
    Alessandro Malandrini
    Maria Bottitta
    Sebastiano Antonino Musumeci
    Carmela Scuderi
    Neurological Sciences, 2016, 37 : 805 - 807
  • [8] Engineering and Characterization of CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis) iPSC Cells
    Burris, Devin
    Sitori, Livia
    Singh, Jeet
    Ahrens-Nicklas, Rebecca
    MOLECULAR THERAPY, 2024, 32 (04) : 527 - 527
  • [9] Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis
    Oswald, MJ
    Palmer, DN
    Damak, S
    MOLECULAR GENETICS AND METABOLISM, 1999, 67 (02) : 169 - 175
  • [10] Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
    Ostergaard, John R. R.
    FRONTIERS IN PSYCHIATRY, 2023, 14