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Auteur Li L

Documents disponibles écrits par cet auteur (39)

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Neuromuscular disorders : NMD, 37. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

Li L ; Menezes MP ; Smith M ; Forbes R ; Zuchner S ; Burgess A ; Woodcock IR ; Delatycki MB ; Yiu EM | 04/2024

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Frontiers in pharmacology, 15. The advent of chimeric antigen receptor T Cell therapy in recalibrating immune balance for rheumatic autoimmune disease treatment

Guo Q ; Li J ; Wang J ; Li L ; Wei J ; Zhang L | 2024

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Article

Journal of the peripheral nervous system : JPNS, Epub. Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement

Li L ; Xie Y ; Zeng S ; Li X ; Lin Z ; Huang S ; Zhao H ; Cao W ; Liu L ; Liu J ; Rong P ; Zhang R | 16/08/2023

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Annals of clinical and translational neurology Comparison between mono-tacrolimus and mono-glucocorticoid in the treatment of myasthenia gravis

Fan Z ; Lei L ; Su S ; Zhang S ; Xie N ; Li L ; Lu Y ; Di L ; Wang M ; Xu M ; Shen XM ; Da Y | United States | 20/02/2023

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Article

Clinical immunology (Orlando, Fla.), 245. Gut microbiota and metabolites in myasthenia gravis: Early diagnostic biomarkers and therapeutic strategies

Kang Y ; Li L ; Kang X ; Zhao Y ; Cai Y | United States | 14/11/2022

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Article

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb girdle muscular dystrophy

Zhao X ; Gao C ; Li L ; Jiang L ; Wei Y ; Che F ; Liu Q | United States | 10/10/2022

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Article

Neurology(R) neuroimmunology & neuroinflammation, 9, 4. Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining

Zhao B ; Dai T ; Zhao D ; Ma X ; Zhao C ; Li L ; Sun Y ; Zhang Y ; Yan Y ; Lu JQ ; Liu F ; Yan C | United States | 17/05/2022

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Article

Journal of neurology Individualized regimen of low-dose rituximab monotherapy for new-onset AChR-positive generalized myasthenia gravis

Du Y ; Li C ; Hao YF ; Zhao C ; Yan Q ; Yao D ; Li L ; Zhang W | Germany | 03/03/2022

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Article

Journal of translational medicine, 19, 1. Identification of the regulatory role of lncRNA HCG18 in myasthenia gravis by integrated bioinformatics and experimental analyses

Li S ; Wang X ; Wang T ; Zhang H ; Lu X ; Liu L ; Li L ; Bo C ; Kong X ; Xu S ; Ning S ; Wang J ; Wang L | 18/11/2021

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Article

Cell biology international Upregulation of circ-FBL promotes myogenic proliferation in myasthenia gravis by regulation of miR-133/PAX7

Lai X ; Bi Z ; Yang X ; Hu R ; Wang L ; Jin M ; Li L ; Bu B | England | 07/08/2021

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Article

The Journal of clinical investigation IRE1α regulates skeletal muscle regeneration through Myostatin mRNA decay

He S ; Fu T ; Yu Y ; Liang Q ; Li L ; Liu J ; Zhang X ; Zhou Q ; Guo Q ; Xu D ; Chen Y ; Wang X ; Chen Y ; Liu J ; Gan Z ; Liu Y | United States | 20/07/2021

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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 ; Zuchner 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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Journal of neuropathology and experimental neurology, 79, 5. Gasdermine E-Dependent Mitochondrial Pyroptotic Pathway in Dermatomyositis: A Possible Mechanism of Perifascicular Atrophy

Liu M, Auteur ; Li L ; Dai T ; Hou Y ; Li W ; Zhao Y ; Fang Q ; Yan C | England | 05/2020

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Article

Journal of clinical laboratory analysis Analysis of myositis autoantibodies in Chinese patients with cancer-associated myositis

Li L ; Liu C ; Wang Q ; Wu C ; Zhang Y ; Cheng L ; Wen X ; Zeng X ; Zhang F ; Li Y | United States | 03/2020

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Article

Clinical rheumatology Assessment of diagnostic utility, clinical phenotypic associations, and prognostic significance of anti-NXP2 autoantibody in patients with idiopathic inflammatory myopathies: a systematic review and meta-analysis

Li L ; Liu C ; Cheng L ; Yan S ; Chen H ; Li Y | Germany | 2020

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Article

Medicine, 99, 3. The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study

Zhang Y ; He J ; Zhang Y ; Li L ; Tang X ; Wang L ; Guo J ; Jin C ; Tighe S ; Zhang Y ; Zhu Y ; Zhu B | United States | 01/2020

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Article

eLife, 8. A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome

Xing G, Auteur ; Jing H ; Zhang L ; Cao Y ; Li L ; Zhao K ; Dong Z ; Chen W ; Wang H ; Cao R ; Xiong WC ; Mei L | England | 09/2019

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Article

Nature biomedical engineering, 3, 9. Augmenting canonical Wnt signalling in therapeutically inert cells converts them into therapeutically potent exosome factories

Ibrahim AGE, Auteur ; Li C ; Rogers R ; Fournier M ; Li L ; Vaturi SD ; Antes T ; Sanchez L ; Akhmerov A ; Moseley JJ ; Tobin B ; Rodriguez-Borlado L ; Smith RR ; Marban L ; Marban E | England | 09/2019

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Article

Cells, 8, 5. Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy

Liu C ; Li L ; Ge M ; Gu L ; Wang M ; Zhang K ; Su Y ; Zhang Y ; Liu C ; Lan M ; Yu Y ; Wang T ; Li Q ; Zhao Y ; Yu Z ; Li N ; Meng Q | 2019

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Article

Annual review of physiology, 80. Neuromuscular Junction Formation, Aging, and Disorders

Li L, Auteur ; Xiong WC ; Mei L | 2018

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Article

Rehabilitation research and practice, 2014. Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool

Harris-Love MO ; Fernandez-Rhodes L ; Joe G ; Shrader JA ; Kokkinis A ; La Pean Kirschner A ; Auh S ; Chen C ; Li L ; Levy E ; Davenport TE ; Di Prospero NA ; Fischbeck KH | 2014

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Article

The Journal of clinical investigation, 124, 8. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Garg A ; O'Rourke J ; Long C ; Doering J ; Ravenscroft G ; Bezprozvannaya S ; Nelson BR ; Beetz N ; Li L ; Chen S ; Laing NG ; Grange RW ; Bassel Duby R ; Olson EN | 2014

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Article

The Journal of neuroscience : the official journal of the Society for Neuroscience, 34, 42. LRP4 Is Critical for Neuromuscular Junction Maintenance

Barik A ; Lu Y ; Sathyamurthy A ; Bowman A ; Shen C ; Li L ; Xiong WC ; Mei L | 2014

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Article

EMBO Molecular Medicine, 5, 5. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

Spampanato C ; Feeney E ; Li L ; Cardone M ; Lim JA ; Annunziata F ; Zare H ; Polishchuk R ; Puertollano R ; Parenti G ; Ballabio A ; Raben N | 2013

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Détail de l'auteur

Auteur Li L

Documents disponibles écrits par cet auteur (39)

Neuromuscular disorders : NMD, 37. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

Frontiers in pharmacology, 15. The advent of chimeric antigen receptor T Cell therapy in recalibrating immune balance for rheumatic autoimmune disease treatment

Journal of the peripheral nervous system : JPNS, Epub. Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement

Annals of clinical and translational neurology Comparison between mono-tacrolimus and mono-glucocorticoid in the treatment of myasthenia gravis

Clinical immunology (Orlando, Fla.), 245. Gut microbiota and metabolites in myasthenia gravis: Early diagnostic biomarkers and therapeutic strategies

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb girdle muscular dystrophy

Neurology(R) neuroimmunology & neuroinflammation, 9, 4. Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining

Journal of neurology Individualized regimen of low-dose rituximab monotherapy for new-onset AChR-positive generalized myasthenia gravis

Journal of translational medicine, 19, 1. Identification of the regulatory role of lncRNA HCG18 in myasthenia gravis by integrated bioinformatics and experimental analyses

Cell biology international Upregulation of circ-FBL promotes myogenic proliferation in myasthenia gravis by regulation of miR-133/PAX7

The Journal of clinical investigation IRE1α regulates skeletal muscle regeneration through Myostatin mRNA decay

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

Journal of neuropathology and experimental neurology, 79, 5. Gasdermine E-Dependent Mitochondrial Pyroptotic Pathway in Dermatomyositis: A Possible Mechanism of Perifascicular Atrophy

Journal of clinical laboratory analysis Analysis of myositis autoantibodies in Chinese patients with cancer-associated myositis

Clinical rheumatology Assessment of diagnostic utility, clinical phenotypic associations, and prognostic significance of anti-NXP2 autoantibody in patients with idiopathic inflammatory myopathies: a systematic review and meta-analysis

Medicine, 99, 3. The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study

eLife, 8. A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome

Nature biomedical engineering, 3, 9. Augmenting canonical Wnt signalling in therapeutically inert cells converts them into therapeutically potent exosome factories

Cells, 8, 5. Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy

Annual review of physiology, 80. Neuromuscular Junction Formation, Aging, and Disorders

Rehabilitation research and practice, 2014. Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool

The Journal of clinical investigation, 124, 8. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

The Journal of neuroscience : the official journal of the Society for Neuroscience, 34, 42. LRP4 Is Critical for Neuromuscular Junction Maintenance

EMBO Molecular Medicine, 5, 5. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease