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Auteur Li J

Documents disponibles écrits par cet auteur (85)

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The Journal of molecular diagnostics : JMD Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing

Li S ; Han X ; Xu Y ; Chang C ; Gao L ; Li J ; Lu Y ; Mao A ; Wang Y | United States | 31/05/2022

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Frontiers in Genetics, 13. Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient

Bai Y ; Liu J ; Xu J ; Sun Y ; Li J ; Gao Y ; Liu L ; Jia C ; Kong X ; Wang L | 09/05/2022

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Article

Nature, 604, 7905. AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Wang J ; Zhang Y ; Mendonca CA ; Yukselen O ; Muneeruddin K ; Ren L ; Liang J ; Zhou C ; Xie J ; Li J ; Jiang Z ; Kucukural A ; Shaffer SA ; Gao G ; Wang D | England | 04/2022

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Frontiers in cellular and infection microbiology, 12. Modification of Intestinal Microbiota Dysbiosis by Low-Dose Interleukin-2 in Dermatomyositis: A Post Hoc Analysis From a Clinical Trial Study

Zhufeng Y ; Xu J ; Miao M ; Wang Y ; Li Y ; Huang B ; Guo Y ; Tian J ; Sun X ; Li J ; Lu D ; Li Z ; Li Y ; He J | 14/03/2022

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Article

Journal of comparative effectiveness research Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

McDonald CM ; Muntoni F ; Penematsa V ; Jiang J ; Kristensen A ; Bibbiani F ; Goodwin E ; Gordish Dressman H ; Morgenroth L ; Werner C ; Li J ; Able R ; Trifillis P ; Tulinius M | England | 18/11/2021

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Article

Circulation, 144,22. Therapeutic Exon Skipping via a CRISPR-guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo

Li J ; Wang K ; Zhang Y ; Qi T ; Yuan J ; Zhang L ; Qiu H ; Wang J ; Yang HT ; Dai Y ; Song Y ; Chang X | United States | 26/10/2021

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Article

Frontiers in immunology, 12. Description and Analysis of a Novel Subtype of the Anti-Synthetase Syndrome Characterized by Frequent Attacks of Fever and Systemic Inflammation in a Single-Center Cohort Study

Sun S ; Chen Z ; Zhang D ; Xu W ; Wu W ; Sun F ; Gu L ; Chen J ; Li J ; Li T ; Wang X ; Ye S | 23/09/2021

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Human molecular genetics, 30, 11. The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Tusi SK ; Nguyen L ; Thangaraju K ; Li J ; Cleary JD ; Zu T ; Ranum LPW | 31/05/2021

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Article

Molecular immunology, 133. Imbalance of Th17 and Tregs in thymoma may be a pathological mechanism of myasthenia gravis

Chen Y ; Zhang XS ; Wang YG ; Lu C ; Li J ; Zhang P | England | 23/02/2021

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Article

Brain : a journal of neurology 5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

Xi J ; Wang X ; Yue D ; Dou T ; Wu Q ; Lu J ; Liu Y ; Yu W ; Qiao K ; Lin J ; Luo S ; Li J ; Du A ; Dong J ; Chen Y ; Luo L ; Yang J ; Niu Z ; Liang Z ; Zhao C ; Lu J ; Zhu W ; Zhou Y | England | 29/12/2020

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Article

Brain : a journal of neurology, 143, 12. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Pipis M ; Feely SME ; Polke JM ; Skorupinska M ; Perez L ; Shy RR ; Laura M ; Morrow JM ; Moroni I ; Pisciotta C ; Taroni F ; Vujovic D ; Lloyd TE ; Acsadi G ; Yum SW ; Lewis RA ; Finkel RS ; Herrmann DN ; Day JW ; Li J ; Saporta M ; Sadjadi R ; Walk D ; Burns J ; Muntoni F ; Ramchandren S ; Horvath R ; Johnson NE ; Zuchner S ; Pareyson D ; Scherer SS ; Rossor AM ; Shy ME ; Reilly MM | 01/12/2020

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Molecular therapy. Nucleic acids, 23. Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy

Hu N ; Kim E ; Antoury L ; Li J ; González-Pérez P ; Rutkove SB ; Wheeler TM | 26/11/2020

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Article

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 81. The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy

Feng X ; Liu C ; Xi J ; Sun C ; Yue D ; Zhu W ; Li J ; Liang Z ; Lu J ; Luo S | Scotland | 11/2020

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Article

Annals of the rheumatic diseases Janus kinase inhibitor significantly improved rash and muscle strength in juvenile dermatomyositis

Ding Y ; Huang B ; Wang Y ; Hou J ; Chi Y ; Zhou Z ; Li J | England | 28/10/2020

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Article

Frontiers in cell and developmental biology, 8. 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 ; Pan C ; Lei C ; Chen H ; Lan X | 11/09/2020

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Article

Journal of Medicinal Chemistry, 63, 13. Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases

Dang X ; Zhang L ; Franco A ; Li J ; Rocha AG ; Devanathan S ; Dolle RE ; Bernstein PR ; Dorn GW 2nd | United States | 07/2020

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Article

Human molecular genetics Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves

Pantera H, Auteur ; Hu B ; Moiseev D ; Dunham C ; Rashid J ; Moran JJ ; Krentz K ; Rubinstein CD ; Won S ; Li J ; Svaren J | England | 04/2020

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Article

Clinical reviews in allergy & immunology JAK Inhibitors: Prospects in Connective Tissue Diseases

You H ; Xu D ; Zhao J ; Li J ; Wang Q ; Tian X ; Li M ; Zeng X | United States | 03/2020

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Article

Neurology A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Fridman V ; Sillau S ; Acsadi G ; Bacon C ; Dooley K ; Burns J ; Day J ; Feely S ; Finkel RS ; Grider T ; Gutmann L ; Herrmann DN ; Kirk CA ; Knause SA ; Laura M ; Lewis RA ; Li J ; Lloyd TE ; Moroni I ; Muntoni F ; Pagliano E ; Pisciotta C ; Piscosquito G ; Ramchandren S ; Saporta M ; Sadjadi R ; Shy RR ; Siskind CE ; Sumner CJ ; Walk D ; Wilcox J ; Yum SW ; Zuchner S ; Scherer SS ; Pareyson D ; Reilly MM ; Shy ME | United States | 02/2020

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Article

Annals of clinical and translational neurology, 7, 8. Fatigue in patients with hereditary neuropathy with liability to pressure palsies

Fritz NE ; Chen Y ; Waters L ; Saba S ; Hackett M ; Mada FC ; Li J | 2020

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Article

Cell Research Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1

Yin Q ; Wang H ; Li N ; Ding Y ; Xie Z ; Jin L ; Li Y ; Wang Q ; Liu X ; Xu L ; Li Q ; Ma Y ; Cheng Y ; Wang K ; Zhong C ; Yu Q ; Tang W ; Chen W ; Yang W ; Zhang F ; Ding C ; Bao L ; Zhou B ; Hu P ; Li J | England | 12/2019

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Article

F1000Research Peripheral nerve magnetic resonance imaging

Chen Y, Auteur ; Haacke EM ; Li J | England | 10/2019

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Article

The Journal of biological chemistry Peripheral myelin protein 22 modulates store operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.

Vanoye CG, Auteur ; Sakakura M ; Follis RM ; Trevisan AJ ; Narayan M ; Li J ; Sanders CR ; Carter BD | United States | 06/2019

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Article

Clinica chimica acta; international journal of clinical chemistry, 491. Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing

Zhang K, Auteur ; Yang X ; Lin G ; Han Y ; Li J | 04/2019

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Article

Frontiers in pharmacology, 10. 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, Auteur ; Zhang L ; Shen D ; Ding C ; Yang X ; Zhang W ; Li J ; Deng J ; Gong S ; Liu J ; Qian S ; Fang F | 12/03/2019

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Détail de l'auteur

Auteur Li J

Documents disponibles écrits par cet auteur (85)

The Journal of molecular diagnostics : JMD Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing

Frontiers in Genetics, 13. Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient

Nature, 604, 7905. AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Frontiers in cellular and infection microbiology, 12. Modification of Intestinal Microbiota Dysbiosis by Low-Dose Interleukin-2 in Dermatomyositis: A Post Hoc Analysis From a Clinical Trial Study

Journal of comparative effectiveness research Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

Circulation, 144,22. Therapeutic Exon Skipping via a CRISPR-guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo

Frontiers in immunology, 12. Description and Analysis of a Novel Subtype of the Anti-Synthetase Syndrome Characterized by Frequent Attacks of Fever and Systemic Inflammation in a Single-Center Cohort Study

Human molecular genetics, 30, 11. The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats

Molecular immunology, 133. Imbalance of Th17 and Tregs in thymoma may be a pathological mechanism of myasthenia gravis

Brain : a journal of neurology 5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

Brain : a journal of neurology, 143, 12. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Molecular therapy. Nucleic acids, 23. Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 81. The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy

Annals of the rheumatic diseases Janus kinase inhibitor significantly improved rash and muscle strength in juvenile dermatomyositis

Frontiers in cell and developmental biology, 8. C2C12 Mouse Myoblasts Damage Induced by Oxidative Stress Is Alleviated by the Antioxidant Capacity of the Active Substance Phloretin

Journal of Medicinal Chemistry, 63, 13. Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases

Human molecular genetics Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves

Clinical reviews in allergy & immunology JAK Inhibitors: Prospects in Connective Tissue Diseases

Neurology A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Annals of clinical and translational neurology, 7, 8. Fatigue in patients with hereditary neuropathy with liability to pressure palsies

Cell Research Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1

F1000Research Peripheral nerve magnetic resonance imaging

The Journal of biological chemistry Peripheral myelin protein 22 modulates store operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.

Clinica chimica acta; international journal of clinical chemistry, 491. Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing

Frontiers in pharmacology, 10. 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