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5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy
Xi J, Wang X, Yue D, et al.
Brain : a journal of neurology, 2020
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy
Feng X, Liu C, Xi J, et al.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020, 81, p 259
Janus kinase inhibitor significantly improved rash and muscle strength in juvenile dermatomyositis
Ding Y, Huang B, Wang Y, et al.
Annals of the rheumatic diseases, 2020
C2C12 Mouse Myoblasts Damage Induced by Oxidative Stress Is Alleviated by the Antioxidant Capacity of the Active Substance Phloretin
Li J, Yang Q, Han L, et al.
Frontiers in cell and developmental biology, 2020, 8, p 541260
Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases
Dang X, Zhang L, Franco A, et al.
Journal of Medicinal Chemistry, 2020, 63, 13
Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves
Pantera H, Hu B, Moiseev D, et al.
Human molecular genetics, 2020
JAK Inhibitors: Prospects in Connective Tissue Diseases
You H, Xu D, Zhao J, et al.
Clinical reviews in allergy & immunology, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
Fridman V, Sillau S, Acsadi G, et al.
Neurology, 2020
Fatigue in patients with hereditary neuropathy with liability to pressure palsies
Fritz NE, Chen Y, Waters L, et al.
Annals of clinical and translational neurology, 2020, 7, 8, p 1400
Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1
Yin Q, Wang H, Li N, et al.
Cell Research, 2019
Peripheral myelin protein 22 modulates store operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.
Vanoye CG, Sakakura M, Follis RM, et al.
The Journal of biological chemistry, 2019
Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing
Zhang K, Yang X, Lin G, et al.
Clinica chimica acta; international journal of clinical chemistry, 2019, 491, p 66
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
Liu Z, Zhang L, Shen D, et al.
Frontiers in pharmacology, 2019, 10
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
Tao F, Beecham GW, Rebelo AP, et al.
Annals of neurology, 2019, 85, 3, p 316
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
Tao F, Beecham GW, Rebelo AP, et al.
Journal of Neuromuscular Diseases, 2019, 6, 2, p 201
Clinical differences of early and late-onset myasthenia gravis in 985 patients
Fan L, Fan L, Ma S, et al.
Neurological research, 2019, 41, 1, p 45
Altered Gut Microbiota in Myasthenia Gravis.
Qiu D, Xia Z, Jiao X, et al.
Frontiers in microbiology, 2018, 9, p 2627
Altered Gut Microbiota in Myasthenia Gravis
Qiu D, Xia Z, Jiao X, et al.
Frontiers in microbiology, 2018, 9
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
Wang L, Zhang VW, Li S, et al.
Orphanet journal of rare diseases, 2018, 13, 1
Effect of Qiangji Jianli decoction on mitochondrial respiratory chain activity and expression of mitochondrial fusion and fission proteins in myasthenia gravis rats
Song J, Lei X, Jiao W, et al.
Scientific Reports, 2018, 8, 1
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging
Feng X, Luo S, Li J, et al.
Muscle & Nerve, 2018
Chemical, biochemical, preclinical and clinical studies of Ganoderma lucidum polysaccharide as an approved drug for treating myopathy and other diseases in China
Zeng P, Guo Z, Zeng X, et al.
Journal of cellular and molecular medicine, 2018
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E
Lancaster E, Lancaster E, Li J, et al.
Experimental neurology, 2018, 308, p 13
Myasthenia Gravis With Thymoma, Manifesting as AChR-Ab-Positive, Distinct Bulbar Palsy Accompanied by Dysgeusia: A Case Series and Review of Literature
Zhu K, Chen J, Li J, et al.
Frontiers in neurology, 2018, 9
