Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia-Reference-Cited by-同舟云学术

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Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia

Published:2019-03 Issue:3 Volume:62 Page:190-194
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wang Zhangyang,Lin Jie^ORCID,Qiao Kai,Cai Shuang,Zhang Victor W.,Zhao Chongbo,Lu Jiahong

Funder

National Natural Science Foundation of China

Shanghai Health and Family Planning Commission

Major Medical Collaboration and Innovation Program of Guangzhou, Science Technology and Innovation Commission

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

1. HINT1 mutations define a novel disease entity–autosomal recessive axonal neuropathy with neuromyotonia;Aminkeng;Clin. Genet.,2013

2. Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia;Boaretto;Muscle. Nerve,2015

3. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity;Caetano;Pediatr. Neurol.,2014

4. Engineered monomeric human histidine triad nucleotide-binding protein 1 hydrolyzes fluorogenic acyl-adenylate and lysyl-tRNA synthetase-generated lysyl-adenylate;Chou;J. Biol. Chem.,2007

5. A case of neuromyotonia and axonal motor neuropathy: a report of a HINT1 mutation in the United States;Jerath;Muscle Nerve,2015

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2. A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome;Molecular Genetics & Genomic Medicine;2023-12

3. Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles;Frontiers in Neurology;2023-02-06

4. Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge;Frontiers in Pediatrics;2022-11-18

5. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling;Orphanet Journal of Rare Diseases;2022-10-14

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