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Stem cell research, 64. Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1

Jiao K ; Yue D ; Gu X ; Cheng N ; Chang X ; Zhong H ; Huan X ; Su M ; Zhou Y ; Luo S ; Zhao C ; Xi J ; Zhu W | England | 24/08/2022

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Journal of neurology, neurosurgery and psychiatry Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Schiava M ; Ikenaga C ; Villar-Quiles RN ; Caballero-Ávila M ; Topf A ; Nishino I ; Kimonis V ; Udd B ; Schoser B ; Zanoteli E ; Souza PVS ; Tasca G ; Lloyd T ; Lopez-de Munain A ; Paradas C ; Pegoraro E ; Nadaj-Pakleza A ; De Bleecker J ; Badrising U ; Alonso-Jimenez A ; Kostera-Pruszczyk A ; Miralles F ; Shin JH ; Bevilacqua JA ; Olive M ; Vorgerd M ; Kley R ; Brady S ; Williams T ; Dominguez-Gonzalez C ; Papadimas GK ; Warman J ; Claeys KG ; de Visser M ; Muelas N ; Laforet P ; Malfatti E ; Alfano LN ; Nair SS ; Manousakis G ; Kushlaf HA ; Harms MB ; Nance C ; Ramos-Fransi A ; Rodolico C ; Hewamadduma C ; Cetin H ; Garcia-Garcia J ; Pal E ; Farrugia ME ; Lamont PJ ; Quinn C ; Nedkova-Hristova V ; Peric S ; Luo S ; Oldfors A ; Taylor K ; Ralston S ; Stojkovic T ; Weihl C ; Diaz-Manera J | England | 27/07/2022

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JCI insight Dynamin-2 reduction rescues the skeletal myopathy of SPEG-deficient mouse model

Li Q ; Lin J ; Widrick JJ ; Luo S ; Li G ; Zhang Y ; Laporte J ; Perrella MA ; Liu X ; Agrawal PB | United States | 28/06/2022

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Journal of neuroimmunology, 362. Berberine attenuates experimental autoimmune myasthenia gravis via rebalancing the T cell subsets

Song J ; Yang J ; Jing S ; Yan C ; Huan X ; Chen S ; Zhong H ; Lu J ; Xi J ; Luo L ; Chen X ; Wang Z ; Zhao C ; Chu M ; Luo S | Netherlands | 15/01/2022

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$Efficacy and Safety of Immunotherapies in Refractory Myasthenia Gravis: A Systematic Review and Meta-Analysis$

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Frontiers in neurology, 12. Efficacy and Safety of Immunotherapies in Refractory Myasthenia Gravis: A Systematic Review and Meta-Analysis

Feng X ; Song Z ; Wu M ; Liu Y ; Luo S ; Zhao C ; Zhang W | 01/12/2021

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Human mutation Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective

Zhong H ; Yu M ; Lin P ; Zhao Z ; Zheng X ; Xi J ; Zhu W ; Zheng Y ; Zhang W ; Lv H ; Yan C ; Hu J ; Wang Z ; Lu J ; Zhao C ; Luo S ; Yuan Y | United States | 24/09/2021

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International Journal of molecular sciences, 22, 11. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease

Luo S ; Rosen SM ; Li Q ; Agrawal PB | 27/05/2021

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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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Human molecular genetics SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

Luo S ; Li Q ; Lin J ; Murphy Q ; Marty I ; Zhang Y ; Kazerounian S ; Agrawal PB | England | 23/12/2020

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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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Journal of medical genetics, 58, 11. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Zhong H ; Zheng Y ; Zhao Z ; Lin P ; Xi J ; Zhu W ; Lin J ; Lu J ; Yu M ; Zhang W ; Lv H ; Yan C ; Hu J ; Wang Z ; Lu J ; Zhao C ; Yuan Y ; Luo S | England | 29/09/2020

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Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review

Liu Y ; Qiao K ; Yan C ; Song J ; Huan X ; Luo S ; Lu J ; Zhao C ; Xi J | Scotland | 04/2020

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European neurology, 83, 2. Adult Ocular Myasthenia Gravis Conversion: A Single-Center Retrospective Analysis in China

Feng X ; Huan X ; Yan C ; Song J ; Lu J ; Zhou L ; Wu H ; Qiao K ; Lu J ; Xi J ; Luo S ; Zhao C | Switzerland | 2020

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Genetics in medicine : official journal of the American College of Medical Genetics Genotype-phenotype correlations in recessive titinopathies

Savarese M ; Vihola A ; Oates EC ; Barresi R ; Fiorillo C ; Tasca G ; Jokela M ; Sarkozy A ; Luo S ; Diaz-Manera J ; Ehrstedt C ; Rojas Garcia R ; Saenz A ; Muelas N ; Lonardo F ; Fodstad H ; Qureshi T ; Johari M ; Valipakka S ; Luque H ; Petiot P ; de Munain AL ; Pane M ; Mercuri E ; Torella A ; Nigro V ; Astrea G ; Santorelli FM ; Bruno C ; Kuntzer T ; Illa I ; Vilchez JJ ; Julien C ; Ferreiro A ; Malandrini A ; Zhao CB ; Casar-Borota O ; Davis M ; Muntoni F ; Hackman P ; Udd B | United States | 2020

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$Low-dose rituximab lowers serum Exosomal miR-150-5p in AChR-positive refractory myasthenia gravis patients$

Article

Journal of neuroimmunology, 348. Low-dose rituximab lowers serum Exosomal miR-150-5p in AChR-positive refractory myasthenia gravis patients

Zhong H ; Lu J ; Jing S ; Xi J ; Yan C ; Song J ; Luo S ; Zhao C | Netherlands | 2020

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Muscle & Nerve Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

Feng X, Auteur ; Luo S ; Li J ; Yue D ; Xi J ; Zhu W ; Gao X ; Guan X ; Lu J ; Liang Z ; Zhao C | 25/05/2018

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Molecular genetics and metabolism reports, 16. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Fan X, Auteur ; Fan X ; Xie B ; Zou J ; Luo J ; Qin Z ; D'Gama AM ; Shi J ; Yi S ; Yang Q ; Wang J ; Luo S ; Chen S ; Agrawal PB ; Li Q ; Shen Y | 2018

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Neuromuscular disorders : NMD, 27, 6. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Luo S, Auteur ; Cai S ; Maxwell S ; Yue D ; Zhu W ; Qiao K ; Zhu Z ; Zhou L ; Xi J ; Lu J ; Beeson D ; Zhao C | 2017

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Article

The American journal of cardiology, 118, 6. Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing

Fu L, Auteur ; Luo S ; Cai S ; Hong W ; Guo Y ; Wu J ; Liu T ; Zhao C ; Li F ; Huang H ; Huang M ; Wang J | 2016

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Neuromuscular disorders : NMD, 25, 10. Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

Luo S, Auteur ; Zhu W ; Yue D ; Lin J ; Wang Y ; Zhu Z ; Qiu W ; Lu J ; Hedberg-Oldfors C ; Oldfors A ; Zhao C | 2015

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Neuromuscular disorders : NMD, 25, 2. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Yue D ; Gao M ; Zhu W ; Luo S ; Xi J ; Wang B ; Li Y ; Cai S ; Li J ; Wang Y ; Lu J ; Zhao C | 2015

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Article

Neurology India, 62, 6. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

Xi J ; Blandin G ; Lu J ; Luo S ; Zhu W ; Beroud C ; Pêcheux C ; Labelle V ; Levy N ; Urtizberea JA ; Zhao C ; Krahn M | 2014

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Détail de l'auteur

Auteur Luo S

Documents disponibles écrits par cet auteur (22)

Stem cell research, 64. Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1

Journal of neurology, neurosurgery and psychiatry Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

JCI insight Dynamin-2 reduction rescues the skeletal myopathy of SPEG-deficient mouse model

Journal of neuroimmunology, 362. Berberine attenuates experimental autoimmune myasthenia gravis via rebalancing the T cell subsets

Frontiers in neurology, 12. Efficacy and Safety of Immunotherapies in Refractory Myasthenia Gravis: A Systematic Review and Meta-Analysis

Human mutation Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective

International Journal of molecular sciences, 22, 11. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease

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

Human molecular genetics SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

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

Journal of medical genetics, 58, 11. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review

European neurology, 83, 2. Adult Ocular Myasthenia Gravis Conversion: A Single-Center Retrospective Analysis in China

Genetics in medicine : official journal of the American College of Medical Genetics Genotype-phenotype correlations in recessive titinopathies

Journal of neuroimmunology, 348. Low-dose rituximab lowers serum Exosomal miR-150-5p in AChR-positive refractory myasthenia gravis patients

Muscle & Nerve Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

Molecular genetics and metabolism reports, 16. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Neuromuscular disorders : NMD, 27, 6. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

The American journal of cardiology, 118, 6. Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing

Neuromuscular disorders : NMD, 25, 10. Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

Neuromuscular disorders : NMD, 25, 2. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Neurology India, 62, 6. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy