P. Lin

发表

Distal myopathy due to TCAP variants in four unrelated Chinese patients

Fuchen Liu, Xiaoqing Lv, F. Gao, 2020, neurogenetics.

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

P. Lin, Chuanzhu Yan, Guangyu Wang, 2022, Neurological Sciences.

A novel deletion mutation in GJB1 causes X‐linked Charcot–Marie–Tooth disease in a Han Chinese family

Y. Gong, C. Shao, Wanling Yang, 2010, Muscle & nerve.

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

Y. Gong, P. Lin, Chuanzhu Yan, 2012, Journal of Human Genetics.

Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family

Y. Gong, C. Shao, Wenjie Sun, 2015, Human mutation.

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.

Y. Gong, P. Lin, Chuanzhu Yan, 2013, Molecular genetics and metabolism.

Amygdala Abnormalities Are Related to Anxiety in Patients With Sporadic Amyotrophic Lateral Sclerosis

G. Gong, Pei-yan Shan, T. Dai, 2021 .

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Huili Hu, Y. Gong, C. Shao, 2008, American journal of human genetics.

Tcap Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes

P. Lin, Chuanzhu Yan, Guangyu Wang, 2022, Frontiers in Cell and Developmental Biology.

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

G. Gong, Pei-yan Shan, Yuan Sun, 2021, Journal of Neurology.

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

Pei-yan Shan, T. Dai, P. Lin, 2022, Human brain mapping.

Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2

Shang Gao, Y. Gong, F. Gao, 2018, Neurodegenerative Diseases.

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

P. Lin, Chuanzhu Yan, S. Luo, 2014, Journal of Inherited Metabolic Disease.

A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature

P. Lin, Chuanzhu Yan, Guangyu Wang, 2022, Acta Neurologica Belgica.

Identification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation

Wei Li, Wei Wang, Wei Li, 2017, Scientific Reports.

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

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Human mutation.

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

P. Lin, Chuanzhu Yan, Guangrun Xu, 2018, Journal of Human Genetics.

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

H. Lv, Wei Zhang, Zhaoxia Wang, 2020, Journal of Medical Genetics.

Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population

Yun Yuan, P. Lin, Chuanzhu Yan, 2014, NeuroMolecular Medicine.

Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO

Fuchen Liu, Dandan Zhao, P. Lin, 2021, Neurological Sciences.

Somatic and germinal mosaicism in a Han Chinese family with laminopathies

P. Lin, Chuanzhu Yan, Guangyu Wang, 2022, European Journal of Human Genetics.

A novel Kir2.6 mutation associated with hypokalemic periodic paralysis

Fuchen Liu, P. Lin, Chuanzhu Yan, 2016, Clinical Neurophysiology.

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

Fuchen Liu, Dandan Zhao, P. Lin, 2018, Annals of neurology.

Idebenone protects against oxidized low density lipoprotein induced mitochondrial dysfunction in vascular endothelial cells via GSK3β/β-catenin signalling pathways.

Y. Gong, P. Lin, Chuanzhu Yan, 2015, Biochemical and biophysical research communications.

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

Fuchen Liu, Xiaoqing Lv, Wei Jiang, 2020, Cardiovascular Drugs and Therapy.

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model

Y. Gong, C. Shao, Wenjie Sun, 2017, Disease Models & Mechanisms.

Adult-onset Krabbe disease in two generations of a Chinese family.

Xiuhe Zhao, P. Lin, Chuanzhu Yan, 2018, Annals of translational medicine.

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles

T. Liu, Y. Gong, Fuchen Liu, 2011, Journal of Human Genetics.

Hippocampal subfield and anterior-posterior segment volumes in patients with sporadic amyotrophic lateral sclerosis

G. Gong, B. Zhao, Pei-yan Shan, 2021, NeuroImage: Clinical.

DNM2 mutations in Chinese Han patients with centronuclear myopathy

Y. Gong, T. Dai, Dandan Zhao, 2016, Neurological Sciences.

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure

T. Dai, Dandan Zhao, Wei Jiang, 2021, Neurological Sciences.

Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders

P. Lin, Chuanzhu Yan, Guangyu Wang, 2023, Journal of Human Genetics.

Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy

Dandan Zhao, P. Lin, Chuanzhu Yan, 2022, Journal of Human Genetics.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

P. Lin, Chuanzhu Yan, Jun Zhu, 2013, Neurological Sciences.

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia

P. Lin, Chuanzhu Yan, Yuying Zhao, 2014, Neurological Sciences.

Insights into the mechanisms of telbivudine-induced myopathy associated with mitochondrial dysfunction.

Dandan Zhao, P. Lin, Chuanzhu Yan, 2023, Chemico-biological interactions.

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

Hongzhi Geng, P. Lin, Chuanzhu Yan, 2022, Journal of human genetics.

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

Hongzhi Geng, P. Lin, Chuanzhu Yan, 2022, Journal of Human Genetics.

Combining idebenone and rosuvastatin prevents atherosclerosis by suppressing oxidative stress and NLRP3 inflammasome activation.

Dandan Zhao, Wei Jiang, P. Lin, 2023, European journal of pharmacology.

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred

Y. Gong, C. Shao, P. Lin, 2010, Prenatal diagnosis.

Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability

T. Dai, P. Lin, Chuanzhu Yan, 2024, Fluids and barriers of the CNS.

Idebenone ameliorates statin-induced myotoxicity in atherosclerotic ApoE-/- mice by reducing oxidative stress and improving mitochondrial function.

Dandan Zhao, P. Lin, Chuanzhu Yan, 2024, Biochimica et biophysica acta. Molecular basis of disease.