Description of later onset presentations of neuronal ceroid lipofuscinosis due to mutations in CTSD

被引：0
|
作者：
Burrow, Thomas A. [1 ,2 ]
Spaeth, Christine G. [1 ]
Sisk, Robert E. [1 ,2 ,3 ]
Hallinan, Barbara E. [1 ,2 ]
机构：
[1] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
[2] Univ Cincinnati, Cincinnati, OH USA
[3] Cincinnati Eye Inst, Cincinnati, OH USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2015年 / 114卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2014.12.041
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
39
引用
收藏
页码：S26 / S27
页数：2
相关论文
共 50 条
  • [41] Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers
    Kozina, Anastasiya A.
    Okuneva, Elena G.
    Baryshnikova, Natalia, V
    Kondakova, Olga B.
    Nikolaeva, Ekaterina A.
    Fedoniuk, Inessa D.
    Mikhailova, Svetlana, V
    Krasnenko, Anna Y.
    Stetsenko, Ivan F.
    Plotnikov, Nikolay A.
    Klimchuk, Olesia, I
    Popov, Yaroslav, V
    Surkova, Ekaterina, I
    Shatalov, Peter A.
    Rakitko, Alexander S.
    Ilinsky, Valery V.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (07):
  • [42] 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
  • [43] MUTATIONS IN THE PALMITOYL PROTEIN THIOESTERASE GENE CAUSING INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
    VESA, J
    HELLSTEN, E
    VERKRUYSE, LA
    CAMP, LA
    RAPOLA, J
    SANTAVUORI, P
    HOFMANN, SL
    PELTONEN, L
    NATURE, 1995, 376 (6541) : 584 - 587
  • [44] A unique Neuronal Ceroid Lipofuscinosis Type 1 case due to paternal Uniparental Disomy
    Ay, Simge Tuana
    Cetin, Sena
    Ozen, Filiz
    Gulec, Elif Yilmaz
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1091 - 1092
  • [45] A unique Neuronal Ceroid Lipofuscinosis Type 1 case due to paternal Uniparental Disomy
    Ay, Simge Tuana
    Cetin, Sena
    Ozen, Filiz
    Gulec, Elif Yilmaz
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1091 - 1092
  • [46] Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
    Mancini, Cecilia
    Nassani, Stefano
    Guo, Yiran
    Chen, Yulan
    Giorgio, Elisa
    Brussino, Alessandro
    Di Gregorio, Eleonora
    Cavalieri, Simona
    Lo Buono, Nicola
    Funaro, Ada
    Pizio, Nicola Renato
    Nmezi, Bruce
    Kyttala, Aija
    Santorelli, Filippo Maria
    Padiath, Quasar Salem
    Hakonarson, Hakon
    Zhang, Hao
    Brusco, Alfredo
    JOURNAL OF NEUROLOGY, 2015, 262 (01) : 173 - 178
  • [47] Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama
    Burneo, JG
    Arnold, T
    Palmer, CA
    Kuzniecky, RI
    Oh, SJ
    Faught, E
    EPILEPSIA, 2003, 44 (06) : 841 - 846
  • [48] Clinical course and pathology of dominantly-inherited adult-onset neuronal ceroid lipofuscinosis
    Faught, E
    Palmer, C
    Arnold, T
    Herrera, G
    Kuzniecky, R
    Filliam, F
    Oh, S
    BRAIN PATHOLOGY, 1996, 6 (03) : 350 - 350
  • [49] Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
    Cecilia Mancini
    Stefano Nassani
    Yiran Guo
    Yulan Chen
    Elisa Giorgio
    Alessandro Brussino
    Eleonora Di Gregorio
    Simona Cavalieri
    Nicola Lo Buono
    Ada Funaro
    Nicola Renato Pizio
    Bruce Nmezi
    Aija Kyttala
    Filippo Maria Santorelli
    Quasar Salem Padiath
    Hakon Hakonarson
    Hao Zhang
    Alfredo Brusco
    Journal of Neurology, 2015, 262 : 173 - 178
  • [50] Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits
    ORawe, A
    Mitchison, HM
    Williams, R
    Wheeler, R
    Andermann, E
    Andermann, F
    Hart, YM
    Martin, JJ
    Philippart, M
    Stephenson, JBP
    Gardiner, RM
    Mole, SE
    NEUROPEDIATRICS, 1997, 28 (01) : 21 - 22
12345