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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

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

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

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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

2024

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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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Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Journal of medical genetics, 2021-11, Vol.58 (11), p.729

2021

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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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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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A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy

Journal of human genetics, 2022-07, Vol.67 (7), p.441-444

2022

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

Seven-and-a-half syndrome

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

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

Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

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

Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy

A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy

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