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

页码：1415 / 1418

页数：3

共 50 条

[41] A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
Miyabayashi, Takuya
Ochiai, Tatsuhiro
Suzuki, Naoki
Aoki, Masashi
Inui, Takehiko
Okubo, Yukimune
Sato, Ryo
Togashi, Noriko
Takashima, Hiroshi
Ishiura, Hiroyuki
Tsuji, Shoji
Koh, Kishin
Takiyama, Yoshihisa
Haginoya, Kazuhiro
JOURNAL OF HUMAN GENETICS, 2019, 64 (02) : 171 - 176
[42] A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family
Niu, Fusheng
Yu, Shanshan
Zhang, Zhenxin
Yi, Xin
Ye, Lili
Tang, Wei
Qiu, Changchun
Wen, Hongbo
Sun, Yujing
Gao, Jing
Guo, Yupu
NEUROBIOLOGY OF AGING, 2014, 35 (10) : 2420.e1 - 2420.e5
[43] A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
Takuya Miyabayashi
Tatsuhiro Ochiai
Naoki Suzuki
Masashi Aoki
Takehiko Inui
Yukimune Okubo
Ryo Sato
Noriko Togashi
Hiroshi Takashima
Hiroyuki Ishiura
Shoji Tsuji
Kishin Koh
Yoshihisa Takiyama
Kazuhiro Haginoya
Journal of Human Genetics, 2019, 64 : 171 - 176
[44] A novel dominant-negative mutation of the hepatocyte nuclear factor-1α gene in Japanese early-onset type 2 diabetes
Tanaka, S
Kobayashi, T
Tomura, H
Okubo, M
Nakanishi, K
Takeda, J
Murase, T
HORMONE AND METABOLIC RESEARCH, 2000, 32 (09) : 373 - 377
[45] A De Novo ADCY5 Mutation Causes Early-Onset Autosomal Dominant Chorea and Dystonia
Carapito, Raphael
Paul, Nicodeme
Untrau, Meiggie
Le Gentil, Marion
Ott, Louise
Alsaleh, Ghada
Jochem, Pierre
Radosavljevic, Mirjana
Le Caignec, Cedric
David, Albert
Damier, Philippe
Isidor, Bertrand
Bahram, Seiamak
MOVEMENT DISORDERS, 2015, 30 (03) : 423 - 427
[46] Early-onset Rhabdomyolysis Associated With Daptomycin
Edwards, Charles M.
King, Kelli
Garcia, Roberto J.
INFECTIOUS DISEASES IN CLINICAL PRACTICE, 2006, 14 (05) : 327 - 328
[47] Early-onset progressive chronic inflammatory demyelinating polyneuropathy (CIDP) associated with CNS demyelination and inflammatory myopathy
Barisic, N
Pazanin, L
Hutinec, Z
Sojat-Cvitanovic, L
Trbojevic-Cepe, M
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S85 - S86
[48] Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies
Wolfe, GI
Brower, RD
Burns, DK
NEUROMUSCULAR DISORDERS, 2000, 10 (07) : 503 - 506
[49] A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy
Zhao, Xuechao
Wang, Yanhong
Cai, Aojie
Mei, Shiyue
Liu, Ning
Kong, Xiangdong
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (01)
[50] Early-onset auto-inflammatory disease associated with a novel heterozygous mutation in TNFAIP3 (A20)
Ligeti, K.
Hoffmann, K.
Schultheiss, C.
Binder, M.
Wass, M.
ONCOLOGY RESEARCH AND TREATMENT, 2019, 42 : 256 - 257

← 1 2 3 4 5 →