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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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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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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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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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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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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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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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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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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.729-736

2021

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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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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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Characteristics of Pompe disease in China: a report from the Pompe registry

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.78-78, Article 78

2019

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Elevated peripheral inflammation is associated with choroid plexus enlargement in independent sporadic amyotrophic lateral sclerosis cohorts

Fluids and barriers of the CNS, 2024-10, Vol.21 (1), p.83-10, Article 83

2024

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Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Clinical genetics, 2021-03, Vol.99 (3), p.384-395

2021

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Revisiting Pathological Classification Criteria for Adult Idiopathic Inflammatory Myopathies: In-Depth Analysis of Muscle Biopsies and Correlation Between Pathological Diagnosis and Clinical Manifestations

Journal of neuropathology and experimental neurology, 2018-05, Vol.77 (5), p.395-404

2018

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Effect of Bone Marrow Mesenchymal Stem Cells on Satellite Cell Proliferation and Apoptosis in Immobilization-Induced Muscle Atrophy in Rats

Medical science monitor, 2016-11, Vol.22, p.4651-4660

2016

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Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation

Neurological sciences, 2021-12, Vol.42 (12), p.5123-5130

2021

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Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.399-404

2014

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Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

Journal of neurology, neurosurgery and psychiatry, 2010-02, Vol.81 (2), p.231-236

2010

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Unfolded protein response and activated degradative pathways regulation in GNE myopathy

PloS one, 2013-03, Vol.8 (3), p.e58116-e58116

2013

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A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

American journal of human genetics, 2008-12, Vol.83 (6), p.752-759

2008

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

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

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

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

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

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

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

Skeletal muscle involvement in systemic amyloidosis is often overlooked

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

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

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

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

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

Characteristics of Pompe disease in China: a report from the Pompe registry

Elevated peripheral inflammation is associated with choroid plexus enlargement in independent sporadic amyotrophic lateral sclerosis cohorts

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Revisiting Pathological Classification Criteria for Adult Idiopathic Inflammatory Myopathies: In-Depth Analysis of Muscle Biopsies and Correlation Between Pathological Diagnosis and Clinical Manifestations

Effect of Bone Marrow Mesenchymal Stem Cells on Satellite Cell Proliferation and Apoptosis in Immobilization-Induced Muscle Atrophy in Rats

Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

Unfolded protein response and activated degradative pathways regulation in GNE myopathy

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

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