Jun Fu

发表

A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot–Marie–Tooth disease

Yun Yuan, Jun Fu, 2018, Neuromuscular Disorders.

Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot–Marie–Tooth disease type 2K

Rui Wu, H. Lv, Zhaoxia Wang, 2017, Neuromuscular Disorders.

Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1

Jiewen Zhang, Jia Song, Gang Li, 2020, Neurological research.

Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6

Jiewen Zhang, Gang Li, Jun Fu, 2022, Frontiers in Genetics.

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome

Xin-Hua Xiao, Jun Fu, Yun Pan, 2019, Chinese medical journal.

“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies

Wei Zhang, Yun Yuan, Yi-ming Zheng, 2016, Chinese medical journal.

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy

Wei Zhang, H. Lv, Yun Yuan, 2018, Neuromuscular Disorders.

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement

Jiewen Zhang, Jia Song, Gang Li, 2019, Clinical genetics.

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2‐related diseases

Rui Wu, H. Lv, Zhaoxia Wang, 2018, Neuropathology : official journal of the Japanese Society of Neuropathology.

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

M. Kennerson, Jin He, Jing Zhang, 2022, Annals of neurology.

Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice

Xuebing Ding, Xue-Jing Wang, Jia Song, 2021, Acta Neuropathologica Communications.

Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy

Rui Wu, H. Lv, Zhaoxia Wang, 2019, Neuropathology : official journal of the Japanese Society of Neuropathology.

Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea

Xin-Hua Xiao, Tong Wang, Jun Fu, 2019, Chinese medical journal.

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot–Marie–Tooth disease

Jiewen Zhang, Jia Song, Gang Li, 2019, Journal of Neurology.