Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation

被引：0
|
作者：
Diego Lopergolo
Simona Salvatore
Vincenzo Sorrentino
Alessandro Malandrini
Filippo Maria Santorelli
Carla Battisti
机构：
[1] University of Siena,Department of Medicine, Surgery and Neurosciences
[2] UOC Neurologia E Malattie Neurometaboliche,Department of Molecular and Developmental Medicine
[3] Azienda Ospedaliero-Universitaria Senese,Molecular Medicine and Neurogenetics
[4] Policlinico Le Scotte,undefined
[5] University of Siena,undefined
[6] Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases,undefined
[7] Azienda Ospedaliero Universitaria Senese,undefined
[8] IRCCS Fondazione Stella Maris,undefined
来源：
Neurological Sciences | 2023年 / 44卷
关键词：
NAGLU; Neuropathy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1415 / 1418
页数：3
相关论文
共 50 条
  • [1] Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
    Lopergolo, Diego
    Salvatore, Simona
    Sorrentino, Vincenzo
    Malandrini, Alessandro
    Santorelli, Filippo Maria
    Battisti, Carla
    NEUROLOGICAL SCIENCES, 2023, 44 (04) : 1415 - 1418
  • [2] Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation
    Tetreault, Martine
    Gonzalez, Michael
    Dicaire, Marie-Josee
    Allard, Pierre
    Gehring, Kalle
    Leblanc, Diane
    Leclerc, Nadine
    Schondorf, Ronald
    Mathieu, Jean
    Zuchner, Stephan
    Brais, Bernard
    BRAIN, 2015, 138 : 1477 - 1483
  • [3] Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ
    Nanthapisal, Sira
    Omoyinmi, Ebun
    Murphy, Claire
    Standing, Ariane
    Eisenhut, Michael
    Eleftheriou, Despina
    Brogan, Paul A.
    PEDIATRICS, 2017, 139 (01)
  • [4] Familial early-onset deep venous thrombosis associated with a novel HRG mutation
    Luo, Junfu
    Zhang, Wenwen
    Zeng, Qingfu
    Zhou, Weimin
    Cao, Qing
    Zhou, Wei
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (02) : 68 - 71
  • [5] Early-onset stroke associated with a mutation in mitofusin 2
    Chung, K. W.
    Cho, S. Y.
    Hwang, S. J.
    Kim, K. H.
    Yoo, J. H.
    Kwon, O.
    Kim, S. M.
    Sunwoo, I. N.
    Zuechner, S.
    Choi, B. O.
    NEUROLOGY, 2008, 70 (21) : 2010 - 2011
  • [6] A novel parkin mutation is linked with early-onset PD
    Pippa Murdie
    Nature Clinical Practice Neurology, 2006, 2 (3): : 120 - 121
  • [7] A novel KCND3 mutation associated with early-onset lone atrial fibrillation
    Huang, Yuan
    Yang, Jiawei
    Xie, Wanyi
    Li, Qince
    Zeng, Zhipeng
    Sui, Haibo
    Shan, Zhonggui
    Huang, Zhengrong
    ONCOTARGET, 2017, 8 (70) : 115503 - 115512
  • [8] Novel NFKB2 mutation associated with early-onset common variable immunodeficiency
    Liu, Y.
    Hanson, S.
    Gurugama, P.
    Jones, A.
    Clark, B.
    Ibrahim, M. A. A.
    IMMUNOLOGY, 2014, 143 : 172 - 172
  • [9] Novel NFKB2 Mutation in Early-Onset CVID
    Yiwen Liu
    Steven Hanson
    Padmalal Gurugama
    Alison Jones
    Barnaby Clark
    Mohammad A A Ibrahim
    Journal of Clinical Immunology, 2014, 34 : 686 - 690
  • [10] Novel NFKB2 Mutation in Early-Onset CVID
    Liu, Yiwen
    Hanson, Steven
    Gurugama, Padmalal
    Jones, Alison
    Clark, Barnaby
    Ibrahim, Mohammad A. A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 686 - 690
12345