Pengfei Lin

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 5

Top Topics

Muscular Dystrophy

Dna Methylation

Top Venues

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

European journal of human genetics : EJHG

Acta neurologica Belgica

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Guangyu Wang, Wenjing Wu, Xiaoqing Lv, Chuanzhu Yan, Pengfei Lin
Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders. Journal of human genetics (2023)
Guangyu Wang, Ying Hou, Xiaoqing Lv, Chuanzhu Yan, Pengfei Lin
Somatic and germinal mosaicism in a Han Chinese family with laminopathies. European journal of human genetics : EJHG (2022)
Ling Xu, Guangyu Wang, Xiaoqing Lv, Dong Zhang, Chuanzhu Yan, Pengfei Lin
A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature. Acta neurologica Belgica 122 (5) (2022)
Guangyu Wang, Xiaoqing Lv, Ling Xu, Rui Zhang, Chuanzhu Yan, Pengfei Lin
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 43 (5) (2022)
Xiaoqing Lv, Bing Zhao, Ling Xu, Wei Jiang, Tingjun Dai, Dandan Zhao, Pengfei Lin, Chuanzhu Yan
Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)