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Auteur Ma Y

Documents disponibles écrits par cet auteur (21)

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Nature neuroscience, 28, 4. Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis

Cheng M ; Lu D ; Li K ; Wang Y ; Tong X ; Qi X ; Yan C ; Ji K ; Wang J ; Wang W ; Lv H ; Zhang X ; Kong W ; Zhang J ; Ma J ; Li K ; Wang Y ; Feng J ; Wei P ; Li Q ; Shen C ; Fu XD ; Ma Y ; Zhang X | 04/2025

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Cell reports. Medicine, 6, Epub. Single-cut gene therapy in a one-step generated rhesus monkey model of Duchenne muscular dystrophy

Bai R ; Guo W ; Zhang T ; Ren S ; Liu J ; Xiao P ; Zhang J ; Sun W ; Yang J ; Ma Y ; Liu S ; Zhou C ; Li S ; Wang H ; Zhang S ; Ji W ; Wu S ; Chen Y | 24/03/2025

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European journal of neurology, Epub. A multicenter, randomized, open-label, phase 2 clinical study of telitacicept in adult patients with generalized myasthenia gravis

Yin J ; Zhao M ; Xu X ; Zhang M ; Xu Z ; Li Z ; Qin X ; Li Z ; Zhao C ; Zhou H ; Ma Y ; Cao W ; Wang G ; Lin Y ; Zhang J ; Zhang X ; Cai H ; Qian W ; Wang Y ; Zhang X ; Liu G ; Wang J ; Qiu W ; Min L ; Li J ; Deng H ; Chu L ; Zhang Y ; Fang J | 10/05/2024

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Science advances, 10, 18. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype

Ma Y ; Schwager Karpukhina A ; Dib C ; Gautier C ; Hermine O ; Allemand E ; Vassetzky YS | 03/05/2024

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EMBO Molecular Medicine Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

Xie Q ; Chen X ; Ma H ; Zhu Y ; Ma Y ; Jalinous L ; Cox GF ; Weaver F ; Yang J ; Kennedy Z ; Gruntman A ; Du A ; Su Q ; He R ; Tai PW ; Gao G ; Xie J | 27/02/2024

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Article

CNS Drugs, 38, 2. The Efficacy and Safety of Different Targeted Drugs for the Treatment of Generalized Myasthenia Gravis: A Systematic Review and Bayesian Network Meta-analysis

Ma Y ; Nie X ; Zhu G ; Qi W ; Hao L ; Guo X | 02/2024

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Article

Brain sciences, 13, 10. Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Qiao Y ; Chi Y ; Gu J ; Ma Y | 07/10/2023

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Article

Frontiers in Genetics, 14. Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients

Ma Y ; Duan X ; Liu X ; Fan D | 2023

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Article

Frontiers in neurology, 13. Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy

Chang X ; Wei R ; Wei C ; Liu J ; Qin L ; Yan H ; Ma Y ; Wang Z ; Xiong H | 26/05/2022

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Article

Frontiers in neurology, 12. The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort

Ma Y ; Sun A ; Zhang Y ; Fan D ; Liu X | 13/10/2021

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Article

Orphanet journal of rare diseases, 16, 1. Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

Yao M ; Xia Y ; Feng Y ; Ma Y ; Hong Y ; Zhang Y ; Chen J ; Yuan C ; Mao S | 09/09/2021

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Article

Redox biology, 43. Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy

Karpukhina A ; Galkin I ; Ma Y ; Dib C ; Zinovkin R ; Pletjushkina O ; Chernyak B ; Popova E ; Vassetzky Y | 07/2021

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Stem cell research, 51. Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene

Zhang H ; Zhang H ; Ma Y ; Lv Y ; Gai Z ; Liu Y | England | 03/2021

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Article

Frontiers in neurology, 12. Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C

Duan X ; Ma Y ; Fan D ; Liu X | 12/02/2021

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Article

Aging Melatonin exerts immunoregulatory effects by balancing peripheral effector and regulatory T helper cells in myasthenia gravis

Chang T ; Niu C ; Sun C ; Ma Y ; Guo R ; Ruan Z ; Gao Y ; Lu X ; Li H ; Lin Y ; Lin J ; Li Z | United States | 02/11/2020

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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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Article

Cell death & disease, 11, 7. MBNL1 reverses the proliferation defect of skeletal muscle satellite cells in myotonic dystrophy type 1 by inhibiting autophagy via the mTOR pathway

Song KY ; Guo XM ; Wang HQ ; Zhang L ; Huang SY ; Huo YC ; Zhang G ; Feng JZ ; Zhang RR ; Ma Y ; Hu QZ ; Qin XY | 2020

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Article

The International journal of neuroscience Myoglobin: A new biomarker for spinal and bulbar muscular atrophy?

Guo H ; Lu M ; Ma Y ; Liu X | England | 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

European journal of medical genetics, 58, 3. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis

Li X ; Ding Y ; Ma Y ; Liu Y ; Wang Q ; Song J ; Yang Y | 2015

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Article

Mammalian genome, 5, 3. Exclusion of two candidate genes, Spnb-2 and Ddc, for the wobber spinal muscular atrophy gene on proximal mouse Chromosome 11

Lengeling A ; Zimmer WE ; SR GOODMAN ; Ma Y ; Bloom ML ; Bruneau G | 1994

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Auteur Ma Y

Documents disponibles écrits par cet auteur (21)

Nature neuroscience, 28, 4. Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis

Cell reports. Medicine, 6, Epub. Single-cut gene therapy in a one-step generated rhesus monkey model of Duchenne muscular dystrophy

European journal of neurology, Epub. A multicenter, randomized, open-label, phase 2 clinical study of telitacicept in adult patients with generalized myasthenia gravis

Science advances, 10, 18. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype

EMBO Molecular Medicine Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

CNS Drugs, 38, 2. The Efficacy and Safety of Different Targeted Drugs for the Treatment of Generalized Myasthenia Gravis: A Systematic Review and Bayesian Network Meta-analysis

Brain sciences, 13, 10. Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Frontiers in Genetics, 14. Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients

Frontiers in neurology, 13. Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy

Frontiers in neurology, 12. The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort

Orphanet journal of rare diseases, 16, 1. Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

Redox biology, 43. Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy

Stem cell research, 51. Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene

Frontiers in neurology, 12. Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C

Aging Melatonin exerts immunoregulatory effects by balancing peripheral effector and regulatory T helper cells in myasthenia gravis

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

Cell death & disease, 11, 7. MBNL1 reverses the proliferation defect of skeletal muscle satellite cells in myotonic dystrophy type 1 by inhibiting autophagy via the mTOR pathway

The International journal of neuroscience Myoglobin: A new biomarker for spinal and bulbar muscular atrophy?

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

European journal of medical genetics, 58, 3. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis

Mammalian genome, 5, 3. Exclusion of two candidate genes, Spnb-2 and Ddc, for the wobber spinal muscular atrophy gene on proximal mouse Chromosome 11