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Documents disponibles écrits par cet auteur (43)

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Article

International journal of molecular medicine, 48, 5. CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review)

Chen L ; Tang F ; Gao H ; Zhang X ; Li X ; Xiao D | Greece | 11/2021

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British journal of pharmacology A new therapeutic effect of fenofibrate in Duchenne muscular dystrophy: The promotion of myostatin degradation

Sun Z ; Xu D ; Zhao L ; Li X ; Li S ; Huang X ; Li C ; Sun L ; Liu B ; Jiang Z ; Zhang L | England | 22/09/2021

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Article

Orphanet journal of rare diseases, 16, 1. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Tan D ; Ge L ; Fan Y ; Chang X ; Wang S ; Wei C ; Ding J ; Liu A ; Wang S ; Li X ; Gao K ; Yang H ; Que C ; Huang Z ; Li C ; Zhu Y ; Mao B ; Jin B ; Hua Y ; Zhang X ; Zhang B ; Zhu W ; Zhang C ; Wang Y ; Yuan Y ; Jiang Y ; Rutkowski A ; Bonnemann CG ; Wu X ; Xiong H | 19/07/2021

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Article

European journal of neurology Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China

Xie Y ; Lin Z ; Liu L ; Li X ; Huang S ; Zhao H ; Wang B ; Zeng S ; Cao W ; Li L ; Zhu X ; Huang S ; Yang H ; Wang M ; Hu Z ; Wang J ; Guo J ; Shen L ; Jiang H ; Züchner S ; Tang B ; Zhang R | England | 13/07/2021

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Article

13, 1. In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

Chen M ; Shi H ; Gou S ; Wang X ; Li L ; Jin Q ; Wu H ; Zhang H ; Li Y ; Wang L ; Li H ; Lin J ; Guo W ; Jiang Z ; Yang X ; Xu A ; Zhu Y ; Zhang C ; Lai L ; Li X | 12/04/2021

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Frontiers in neurology, 11. Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

Xie Y ; Lin Z ; Pakhrin PS ; Li X ; Wang B ; Liu L ; Huang S ; Zhao H ; Cao W ; Hu Z ; Guo J ; Shen L ; Tang B ; Zhang R | 14/12/2020

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Article

Journal of cachexia, sarcopenia and muscle TAK1 inhibition improves myoblast differentiation and alleviates fibrosis in a mouse model of Duchenne muscular dystrophy

Xu D ; Li S ; Wang L ; Jiang J ; Zhao L ; Huang X ; Sun Z ; Li C ; Sun L ; Li X ; Jiang Z ; Zhang L | Germany | 25/11/2020

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Article

Gene therapy Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China

Hu C ; Li X | England | 06/2020

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Article

Academic radiology The Diagnostic Value of MR IVIM and T2 Mapping in Differentiating Autoimmune Myositis From Muscular Dystrophy

Ran J ; Yin C ; Liu C ; Li Y ; Hou B ; Morelli JN ; Dai B ; Li X | United States | 05/2020

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Article

Journal of clinical pharmacology Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy

Li X ; Conklin LS ; van den Anker J ; Hoffman EP ; Clemens PR ; Jusko WJ | England | 05/2020

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Article

Acta neuropathologica communications, 8, 1. CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Luan CJ ; Guo W ; Chen L ; Wei XW ; He Y ; Chen Y ; Dang SY ; Prior R ; Li X ; Kuang Y ; Wang ZG ; van den Bosch L ; Gu MM | 03/2020

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Article

Stem cell research, 43. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

Ma Y ; Zhang H ; Li X ; Yang X ; Li Y ; Guan J ; Lv Y ; Gai Z ; Liu Y | England | 03/2020

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$Janus kinase (JAK) inhibition with baricitinib in refractory juvenile dermatomyositis$

Article

Annals of the rheumatic diseases Janus kinase (JAK) inhibition with baricitinib in refractory juvenile dermatomyositis

Kim H ; Dill S ; O'Brien M ; Vian L ; Li X ; Manukyan M ; Jain M ; Adeojo LW ; George J ; Perez M ; Grom AA ; Sutter M ; Feldman BM ; Yao L ; Millwood M ; Brundidge A ; Pichard DC ; Cowen EW ; Shi Y ; Lu S ; Tsai WL ; Gadina M ; Rider LG ; Colbert RA | England | 2020

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Journal of cachexia, sarcopenia and muscle A potential therapeutic effect of catalpol in Duchenne muscular dystrophy revealed by binding with TAK1

Xu D ; Zhao L ; Jiang J ; Li S ; Sun Z ; Huang X ; Li C ; Wang T ; Sun L ; Li X ; Jiang Z ; Zhang L | Germany | 2020

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Article

Science translational medicine, 11, 520. Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

Lostal W ; Roudaut C ; Faivre M ; Charton K ; Suel L ; Bourg N ; Best H ; Smith JE ; Gohlke J ; Corre G ; Li X ; Elbeck Z ; Knöll R ; Deschamps JY ; Granzier H ; Richard I | United States | 11/2019

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Article

Molecular therapy : the journal of the American Society of Gene Therapy, 27, 7. Effect of Cryopreservation on Autologous Chimeric Antigen Receptor T Cell Characteristics

Panch SR, Auteur ; Srivastava SK ; Elavia N ; McManus A ; Liu S ; Jin P ; Highfill SL ; Li X ; Dagur P ; Kochenderfer JN ; Fry TJ ; Mackall CL ; Lee D ; Shah NN ; Stroncek DF | United States | 07/2019

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Article

Clinical genetics A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family

Wang B, Auteur ; Li X ; Huang S ; Zhao H ; Liu J ; Hu Z ; Lin Z ; Liu L ; Xie Y ; Jin Q ; Zhao H ; Tang B ; Niu Q ; Zhang R | 05/2019

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Article

Molecular genetics & genomic medicine, 7, 3. A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein

Zhou N, Auteur ; Cui J ; Zhao W ; Jiang Y ; Zhu W ; Tang L ; Li X ; Sun M ; Pan C ; Shu X | 03/2019

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Article

Neuromuscular disorders : NMD, 28, 8. A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4

Li X ; Wang J ; Liu L ; Xie Y ; Huang S ; Pakhrin PS ; Jin Q ; Zhu C ; Tang B ; Niu Q ; Zhang R | 08/2018

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Article

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases Detection of human parvovirus B19 infection in the thymus of patients with thymic hyperplasia-associated myasthenia gravis

Gong L, Auteur ; Li Y ; Li X ; Tu Q ; Mou X ; Wang S ; Wan Y ; Lu Q ; Wang J ; Zhang W ; Zhu S ; Han X ; Yao L ; Zhang J ; Huang G ; Zhang W | 09/04/2018

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Article

Neuro-degenerative diseases Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2

Bian X, Auteur ; Lin P ; Li J ; Long F ; Duan R ; Yuan Q ; Li Y ; Gao F ; Gao S ; Wei S ; Li X ; Sun W ; Gong Y ; Yan C ; Liu Q | Switzerland | 2018

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Article

Neuromuscular disorders : NMD, 27, 2. IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients

Liu L, Auteur ; Li X ; Hu Z ; Mao X ; Zi X ; Xia K ; Tang B ; Zhang R | 2017

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Article

Oncotarget, 8, 44. The correlation of neutrophil-to-lymphocyte ratio with the presence and activity of myasthenia gravis

Yang DH, Auteur ; Qian MZ ; Wei MM ; Li J ; Yu MM ; Lu XM ; Yang H ; Lin H ; Li X ; Zhu JY ; Zhang X | 2017

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Article

The Journal of clinical investigation, 126, 9. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

Sabha N, Auteur ; Volpatti JR ; Gonorazky H ; Reifler A ; Davidson AE ; Li X ; Eltayeb NM ; Dall'Armi C ; Di Paolo G ; Brooks SV ; Buj-Bello A ; Feldman EL ; Dowling JJ | 2016

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Article

Neurology, 84, 24. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.

Li X ; Hu Z ; Liu L ; Xie Y ; Zhan Y ; Zi X ; Wang J ; Wu L ; Xia K ; Tang B ; Zhang R | 16/06/2015

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Détail de l'auteur

Auteur Li X

Documents disponibles écrits par cet auteur (43)

International journal of molecular medicine, 48, 5. CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review)

British journal of pharmacology A new therapeutic effect of fenofibrate in Duchenne muscular dystrophy: The promotion of myostatin degradation

Orphanet journal of rare diseases, 16, 1. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

European journal of neurology Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China

13, 1. In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

Frontiers in neurology, 11. Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

Journal of cachexia, sarcopenia and muscle TAK1 inhibition improves myoblast differentiation and alleviates fibrosis in a mouse model of Duchenne muscular dystrophy

Gene therapy Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China

Academic radiology The Diagnostic Value of MR IVIM and T2 Mapping in Differentiating Autoimmune Myositis From Muscular Dystrophy

Journal of clinical pharmacology Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy

Acta neuropathologica communications, 8, 1. CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Stem cell research, 43. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

Annals of the rheumatic diseases Janus kinase (JAK) inhibition with baricitinib in refractory juvenile dermatomyositis

Journal of cachexia, sarcopenia and muscle A potential therapeutic effect of catalpol in Duchenne muscular dystrophy revealed by binding with TAK1

Science translational medicine, 11, 520. Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

Molecular therapy : the journal of the American Society of Gene Therapy, 27, 7. Effect of Cryopreservation on Autologous Chimeric Antigen Receptor T Cell Characteristics

Clinical genetics A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family

Molecular genetics & genomic medicine, 7, 3. A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein

Neuromuscular disorders : NMD, 28, 8. A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases Detection of human parvovirus B19 infection in the thymus of patients with thymic hyperplasia-associated myasthenia gravis

Neuro-degenerative diseases Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2

Neuromuscular disorders : NMD, 27, 2. IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients

Oncotarget, 8, 44. The correlation of neutrophil-to-lymphocyte ratio with the presence and activity of myasthenia gravis

The Journal of clinical investigation, 126, 9. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

Neurology, 84, 24. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.