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
  • [31] Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
    de Fuenmayor-Fernandez de la Hoz, Carlos Pablo
    Hernandez-Lain, Aurelio
    Olive, Montse
    Fernandez-Marmiesse, Ana
    Dominguez-Gonzalez, Cristina
    NEUROMUSCULAR DISORDERS, 2016, 26 (11) : 749 - 753
  • [32] Early-onset Alzheimer's disease due to novel LDLR gene mutation
    Perkovic, Romana
    Francic, Manuela
    Petrovic, Ratimir
    Ozretic, David
    Skara, Stipe
    Pecin, Ivan
    Borovecki, Fran
    ACTA NEUROLOGICA BELGICA, 2024, 124 (01) : 325 - 327
  • [33] Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
    Girardelli, Martina
    Loganes, Claudia
    Pin, Alessia
    Stacul, Elisabetta
    Decleva, Eva
    Vozzi, Diego
    Baj, Gabriele
    De Giacomo, Costantino
    Tommasini, Alberto
    Bianco, Anna Monica
    INFLAMMATORY BOWEL DISEASES, 2018, 24 (06) : 1204 - 1212
  • [34] Early-onset Alzheimer’s disease due to novel LDLR gene mutation
    Romana Perković
    Manuela Frančić
    Ratimir Petrović
    David Ozretić
    Stipe Škara
    Ivan Pećin
    Fran Borovečki
    Acta Neurologica Belgica, 2024, 124 : 325 - 327
  • [35] A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes
    Okazaki, Fumiko
    Wakiguchi, Hiroyuki
    Korenaga, Yuno
    Nakamura, Tamaki
    Yasudo, Hiroki
    Uchi, Shohei
    Yanai, Ryoji
    Asano, Nobuyuki
    Hoshii, Yoshinobu
    Tanabe, Tsuyoshi
    Izawa, Kazushi
    Honda, Yoshitaka
    Nishikomori, Ryuta
    Uchida, Keisuke
    Eishi, Yoshinobu
    Ohga, Shouichi
    Hasegawa, Shunji
    PEDIATRIC RHEUMATOLOGY, 2021, 19 (01)
  • [36] A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer
    Laura Maria Pradella
    Cecilia Evangelisti
    Claudia Ligorio
    Claudio Ceccarelli
    Iria Neri
    Roberta Zuntini
    Laura Benedetta Amato
    Simona Ferrari
    Alberto Maria Martelli
    Giuseppe Gasparre
    Daniela Turchetti
    BMC Cancer, 14
  • [37] A Novel Recessive NEFL Mutation Causes a Severe, Early-Onset Axonal Neuropathy
    Yum, Sabrina W.
    Zhang, Junxian
    Mo, Katie
    Li, Jian
    Scherer, Steven S.
    ANNALS OF NEUROLOGY, 2009, 66 (06) : 759 - 770
  • [38] A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer
    Pradella, Laura Maria
    Evangelisti, Cecilia
    Ligorio, Claudia
    Ceccarelli, Claudio
    Neri, Iria
    Zuntini, Roberta
    Amato, Laura Benedetta
    Ferrari, Simona
    Martelli, Alberto Maria
    Gasparre, Giuseppe
    Turchetti, Daniela
    BMC CANCER, 2014, 14
  • [39] A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy
    Joost, Kairit
    Rodenburg, Richard
    Piirsoo, Andres
    van den Heuvel, Bert
    Zordania, Riina
    Ounap, Katrin
    PEDIATRIC NEUROLOGY, 2010, 42 (03) : 227 - 230
  • [40] A novel mutation in the SPG3A (Atlastin) gene is associated with very early-onset hereditary spastic paraparesis
    Martinuzzi, A
    Daga, A
    Dalpozzo, F
    Rossetto, MG
    Sartori, E
    Mostacciuolo, ML
    Boaretto, F
    ANNALS OF NEUROLOGY, 2002, 52 (03) : S36 - S36