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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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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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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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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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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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Skeletal muscle involvement in systemic amyloidosis is often overlooked

Neuropathology and applied neurobiology, 2024-08, Vol.50 (4), p.e12996-n/a

2024

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Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease

Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.267-9, Article 267

2024

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Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy

Journal of neuropathology and experimental neurology, 2019-06, Vol.78 (6), p.508-514

2019

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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Journal of translational medicine, 2024-05, Vol.22 (1), p.449-19, Article 449

2024

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Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases

Molecular neurobiology, 2017-12, Vol.54 (10), p.8110-8116

2017

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A case report of long-delayed diagnosis of pseudorabies virus encephalitis with endophthalmitis: lessons from metagenomic next generation sequencing

BMC neurology, 2023-05, Vol.23 (1), p.192-192, Article 192

2023

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CMAP decrement by low-frequency repetitive nerve stimulation in different hand muscles of ALS patients

Neurological sciences, 2019-12, Vol.40 (12), p.2609-2615

2019

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A phase II randomized trial of sodium oligomannate in Alzheimer’s dementia

Alzheimer's research & therapy, 2020-09, Vol.12 (1), p.1-110, Article 110

2020

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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

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

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

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

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

Skeletal muscle involvement in systemic amyloidosis is often overlooked

Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease

Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases

A case report of long-delayed diagnosis of pseudorabies virus encephalitis with endophthalmitis: lessons from metagenomic next generation sequencing

CMAP decrement by low-frequency repetitive nerve stimulation in different hand muscles of ALS patients

A phase II randomized trial of sodium oligomannate in Alzheimer’s dementia

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