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Protein kinase R is highly expressed in dermatomyositis and promotes interferon-beta-induced muscle damage

Annals of the rheumatic diseases, 2024-09, p.ard-2024-226057

2024

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Correlation between depression and quality of life in patients with Parkinson's disease

Clinical neurology and neurosurgery, 2021-03, Vol.202, p.106523-106523, Article 106523

2021

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Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia

Movement disorders, 2023-10, Vol.38 (10), p.1968-1970

2023

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Seven-and-a-half syndrome

Practical neurology, 2024-06, Vol.24 (3), p.250-251

2024

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Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy

Journal of medical genetics, 2024-03, Vol.61 (4), p.325-331

2024

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Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy

Journal of human genetics, 2023-02, Vol.68 (2), p.97-101

2023

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Idebenone Protects against Atherosclerosis in Apolipoprotein E-Deficient Mice Via Activation of the SIRT3-SOD2-mtROS Pathway

Cardiovascular drugs and therapy, 2021-12, Vol.35 (6), p.1129-1145

2021

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Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease

The Journal of pathology, 2024-05, Vol.263 (1), p.8-21

2024

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MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction

Journal of medical genetics, 2022-01, Vol.59 (1), p.79-87

2022

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Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family

Neurological sciences, 2022-05, Vol.43 (5), p.3427-3433

2022

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Anti-rituximab antibodies in patients with refractory autoimmune nodopathy with anti-neurofascin-155 antibody

Frontiers in immunology, 2023-03, Vol.14, p.1121705-1121705

2023

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Gasdermine E-Dependent Mitochondrial Pyroptotic Pathway in Dermatomyositis: A Possible Mechanism of Perifascicular Atrophy

Journal of neuropathology and experimental neurology, 2020-05, Vol.79 (5), p.551-561

2020

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Amygdala abnormalities across disease stages in patients with sporadic amyotrophic lateral sclerosis

Human brain mapping, 2022-12, Vol.43 (18), p.5421-5431

2022

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Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti‐transcriptional intermediate factor 1‐γ antibody

CNS neuroscience & therapeutics, 2024-02, Vol.30 (2), p.e14647-n/a

2024

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Efficacy and safety of rituximab treatment in patients with idiopathic inflammatory myopathies: A systematic review and meta-analysis

Frontiers in immunology, 2022-12, Vol.13, p.1051609

2022

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Hypothalamic subregion abnormalities are related to body mass index in patients with sporadic amyotrophic lateral sclerosis

Journal of neurology, 2022-06, Vol.269 (6), p.2980-2988

2022

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Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsn variants

Journal of translational medicine, 2024-08, Vol.22 (1), p.780-12

2024

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Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia

Journal of human genetics, 2018-04, Vol.63 (4), p.521-524

2018

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Correction: HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

BMC genomics, 2024-07, Vol.25 (1), p.745-3, Article 745

2024

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Anti-HMGCR myopathy overlaps with dermatomyositis-like rash: a distinct subtype of idiopathic inflammatory myopathy

Journal of neurology, 2022, Vol.269 (1), p.280-293

2022

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HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

BMC genomics, 2024-05, Vol.25 (1), p.538-12, Article 538

2024

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Nonlinear association between atherogenic index of plasma and chronic kidney disease: a nationwide cross-sectional study

Lipids in health and disease, 2024-09, Vol.23 (1), p.312-9, Article 312

2024

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Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

Journal of medical genetics, 2024-03, Vol.61 (4), p.340-346

2024

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ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency

Annals of neurology, 2018-11, Vol.84 (5), p.659-673

2018

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

Human mutation, 2021-12, Vol.42 (12), p.1615-1623

2021

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Protein kinase R is highly expressed in dermatomyositis and promotes interferon-beta-induced muscle damage

Correlation between depression and quality of life in patients with Parkinson's disease

Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia

Seven-and-a-half syndrome

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy

Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy

Idebenone Protects against Atherosclerosis in Apolipoprotein E-Deficient Mice Via Activation of the SIRT3-SOD2-mtROS Pathway

Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease

MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction

Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family

Anti-rituximab antibodies in patients with refractory autoimmune nodopathy with anti-neurofascin-155 antibody

Gasdermine E-Dependent Mitochondrial Pyroptotic Pathway in Dermatomyositis: A Possible Mechanism of Perifascicular Atrophy

Amygdala abnormalities across disease stages in patients with sporadic amyotrophic lateral sclerosis

Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti‐transcriptional intermediate factor 1‐γ antibody

Efficacy and safety of rituximab treatment in patients with idiopathic inflammatory myopathies: A systematic review and meta-analysis

Hypothalamic subregion abnormalities are related to body mass index in patients with sporadic amyotrophic lateral sclerosis

Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsn variants

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia

Correction: HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

Anti-HMGCR myopathy overlaps with dermatomyositis-like rash: a distinct subtype of idiopathic inflammatory myopathy

HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

Nonlinear association between atherogenic index of plasma and chronic kidney disease: a nationwide cross-sectional study

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency

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

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