Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families

被引：14

作者：

Pacheco-Cuellar, G. ^{[1
]}

Gonzalez-Huerta, L. M. ^{[1
]}

Valdes-Miranda, J. M. ^{[1
]}

Pelaez-Gonzalez, H. ^{[2
]}

Zenteno-Bacheron, S. ^{[3
]}

Cazarin-Barrientos, J. ^{[4
]}

Cuevas-Covarrubias, S. A. ^{[1
]}

机构：

[1] Univ Nacl Autonoma Mexico, Serv Genet, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico

[2] Univ Nacl Autonoma Mexico, Serv Radiol & Imagen, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico

[3] Univ Nacl Autonoma Mexico, Serv Neurol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico

[4] Univ Nacl Autonoma Mexico, Serv Dermatol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico

来源：

JOURNAL OF NEUROLOGY | 2011年 / 258卷 / 10期

关键词：

STOP CODON; PATIENT; PROTEIN; TYPE-2;

D O I：

10.1007/s00415-011-6025-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1890 / 1892

页数：3

共 50 条

[41] Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
Zheng, Wenxia
Yan, Zhenxing
He, Rongni
Huang, Yaowei
Lin, Aiqun
Huang, Wei
Su, Yuying
Li, Shaoyuan
Zhang, Victor Wei
Xie, Huifang
BMC NEUROLOGY, 2018, 18
[42] Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
Wenxia Zheng
Zhenxing Yan
Rongni He
Yaowei Huang
Aiqun Lin
Wei Huang
Yuying Su
Shaoyuan Li
Victor Wei Zhang
Huifang Xie
BMC Neurology, 18
[43] Hereditary Sensory and Autonomic Neuropathy Type IC with SPTLC2 Mutation Associated with Immune Thrombocytopenia
Abdulla, Mansoor C.
INDIAN JOURNAL OF MEDICAL SPECIALITIES, 2022, 13 (03) : 203 - 204
[44] Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
Mastaglia, FL
Nowak, KJ
Stell, R
Phillips, BA
Edmondston, JE
Dorosz, SM
Wilton, SD
Hallmayer, J
Kakulas, BA
Laing, NG
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (02): : 174 - 179
[45] RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY CAUSED BY IGHMBP2 GENE MUTATION
Shi, Chang-he
Song, Bo
Luo, Hai-yang
Mao, Cheng-yuan
Shang, Dan-dan
Cao, Yuan
Sun, Shi-lei
Wu, Jun
Zhuang, Zheng-ping
Xu, Yu-ming
NEUROLOGY, 2015, 85 (04) : 383 - 384
[46] MUTATIONS IN THE FLVCR1 GENE CAUSE HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2
Chiabrando, Deborah
Valperga, Giulio
Altruda, Fiorella
Silengo, Lorenzo
Di Rocco, Maja
Castori, Marco
Kurth, Ingo
Tolosano, Emanuela
AMERICAN JOURNAL OF HEMATOLOGY, 2016, 91 (03) : E266 - E266
[47] A case of HSAN type II with compound heterozygosis for two new HSN2 gene mutations
Pareyson, D
Laurá, M
Coen, K
Nelis, E
De Jonghe, P
Timmerman, V
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2005, 10 : 70 - 70
[48] Hereditary sensory and autonomic neuropathy type II A: Early neurological and skeletal findings
Esmer, C.
Diaz Zambrano, S.
Santos Diaz, M. A.
Gonzalez Huerta, L. M.
Cuevas Covarrubias, S. A.
Bravo Oro, A.
ANALES DE PEDIATRIA, 2014, 80 (04): : 254 - 258
[49] Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family
Arain, Fazal Manzoor
Chand, Prem
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, 2015, 65 (10) : 1128 - 1130
[50] Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation
Yuan, Junhui
Matsuura, Eiji
Higuchi, Yujiro
Hashiguchi, Akihiro
Nakamura, Tomonori
Nozuma, Satoshi
Sakiyama, Yusuke
Yoshimura, Akiko
Izumo, Shuji
Takashima, Hiroshi
NEUROLOGY, 2013, 80 (18) : 1641 - 1649

← 1 2 3 4 5 →