Diagnostic Confidence for CLN3 Disease (Juvenile Batten Disease)

被引：0
|
作者：
Masten, Margaux C. [1 ]
Vierhile, Amy [1 ]
Vermilion, Jennifer [1 ]
Adams, Heather R. [1 ]
Zimmerman, Grace A. [1 ]
Corre, Camille [1 ]
Augustine, Erika F. [1 ]
Mink, Jonathan W. [1 ]
机构：
[1] Univ Rochester, Med Ctr, Rochester, NY 14627 USA
来源：
NEUROLOGY | 2021年 / 96卷 / 15期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
1863
引用
收藏
页数：3
相关论文
共 50 条
  • [21] Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
    Tuxworth, Richard I.
    Vivancos, Valerie
    O'Hare, Megan B.
    Tear, Guy
    HUMAN MOLECULAR GENETICS, 2009, 18 (04) : 667 - 678
  • [22] A HIGH-RESOLUTION GENETIC-MAP FOR THE LOCALIZATION OF JUVENILE BATTEN DISEASE (CLN3)
    CALLEN, DF
    THOMPSON, AD
    KOZMAN, HM
    PHILLIPS, HA
    RICHARDS, RI
    SUTHERLAND, GR
    CYTOGENETICS AND CELL GENETICS, 1992, 60 (3-4): : 168 - 168
  • [23] Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience
    Krantz, Mattias
    Malm, Emma
    Darin, Niklas
    Sofou, Kalliopi
    Savvidou, Antri
    Reilly, Colin
    Bostrom, Petra
    CHILD CARE HEALTH AND DEVELOPMENT, 2022, 48 (05) : 842 - 851
  • [24] Tissue expression and subcellular localization of CLN3, the Batten disease protein
    Margraf, LR
    Boriack, RL
    Routheut, AAJ
    Cuppen, I
    Alhilali, L
    Bennett, CJ
    Bennett, MJ
    MOLECULAR GENETICS AND METABOLISM, 1999, 66 (04) : 283 - 289
  • [25] Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease
    Mao, QW
    Xia, HB
    Davidson, BL
    FEBS LETTERS, 2003, 555 (02) : 351 - 357
  • [26] BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3
    TASCHNER, PEM
    MITCHISON, HM
    KREMMIDIOTIS, G
    ORAWE, A
    MUNROE, PB
    DEVOS, N
    BOUSTANY, RM
    LENSINK, I
    MEINCKE, LJ
    ANDERSON, JW
    DARIGO, KL
    JARVELA, IE
    BUCKLER, AJ
    GUSELLA, JF
    HAINES, JL
    GARDINER, RM
    SUTHERLAND, GR
    DOGGETT, NA
    CALLEN, DF
    MOLE, SE
    LERNER, TJ
    BREUNING, MH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1328 - 1328
  • [27] Biosynthesis and subcellular localization of the CLN3 protein defective in Batten disease
    Jarvela, IE
    Sainio, M
    Rantamäki, T
    Olkkonen, V
    Carpen, O
    Peltonen, L
    Jalanko, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A253 - A253
  • [28] FINE GENETIC-MAPPING OF THE JUVENILE ONSET CEROID LIPOFUSCINOSIS (BATTEN DISEASE) GENE CLN3
    MITCHISON, HM
    MCKAY, TR
    GARDINER, RM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 351 - 351
  • [29] Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
    Järvelä, I
    Sainio, M
    Rantamäki, T
    Olkkonen, VM
    Carpén, O
    Peltonen, L
    Jalanko, A
    HUMAN MOLECULAR GENETICS, 1998, 7 (01) : 85 - 90
  • [30] Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease
    Mathavarajah, Sabateeshan
    McLaren, Meagan D.
    Huber, Robert J.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2018, 1864 (11): : 3559 - 3573
12345