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Works (19)

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy

Orphanet Journal of Rare Diseases
2025-03-17 | Journal article
DOI: 10.1186/s13023-025-03639-x
Contributors: Duoling Li; Yixin Shi; Hanhan Sun; Chuanzhu Yan; Yan Lin
Source: check_circle
Crossref

Genotype–Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis

Neuropathology and Applied Neurobiology
2025-02 | Journal article
DOI: 10.1111/nan.70001
Contributors: Jiayin Wang; Yan Lin; Xingyu Zhuang; Dandan Zhao; Busu Li; Ying Zhao; Zhe Xu; Fuchen Liu; Tingjun Dai; Wei Li et al.
Source: check_circle
Crossref

Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsn variants

Journal of Translational Medicine
2024-08-22 | Journal article
DOI: 10.1186/s12967-024-05574-0
Contributors: Yan Lin; Jiayin Wang; Xingyu Zhuang; Ying Zhao; Wei Wang; Dongdong Wang; Yuying Zhao; Chuanzhu Yan; Kunqian Ji
Source: check_circle
Crossref

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

BMC Genomics
2024-05-31 | Journal article
DOI: 10.1186/s12864-024-10433-9
Contributors: Yan Lin; Jiayin Wang; Ran Xu; Zhe Xu; Yifan Wang; Shirang Pan; Yan Zhang; Qing Tao; Yuying Zhao; Chuanzhu Yan et al.
Source: check_circle
Crossref

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures

The Cerebellum
2024-03-02 | Journal article
DOI: 10.1007/s12311-024-01671-4
Contributors: Jiayin Wang; Yan Lin; Zhihong Xu; Chuanzhu Yan; Yuying Zhao; Kunqian Ji
Source: check_circle
Crossref

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile

Journal of Neurology
2024-02 | Journal article
DOI: 10.1007/s00415-023-12005-5
Contributors: Yan Lin; Jiayin Wang; Hong Ren; Xiaotian Ma; Wei Wang; Ying Zhao; Zhihong Xu; Shuangwu Liu; Wenqing Wang; Xuebi Xu et al.
Source: check_circle
Crossref

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021-06 | Journal article
DOI: 10.1007/s10072-021-05380-2
PMID: 34189666
Contributors: Lin Y; Du J; Wang W; Ren H; Zhao D; Liu F; Lin P; Ji K; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

A novel nonsense variant in MT-CO3 causes MELAS syndrome.

Neuromuscular disorders : NMD
2021-03 | Journal article
DOI: 10.1016/j.nmd.2021.02.020
PMID: 33863631
Contributors: Wang W; Sun Y; Lin Y; Xu X; Zhao D; Ji K; Li W; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021-03 | Journal article
DOI: 10.1007/s10072-021-05155-9
PMID: 33779865
Contributors: Yu X; Ji K; Lin Y; Xu X; Wang W; Li Y; Lu JQ; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

A mitochondrial myopathy-associated tRNA<sup>Ser(UCN)</sup> 7453G>A mutation alters tRNA metabolism and mitochondrial function.

Mitochondrion
2020-12 | Journal article
DOI: 10.1016/j.mito.2020.11.015
PMID: 33279600
Contributors: Lin Y; Xu X; Wang W; Liu F; Zhao D; Li D; Ji K; Li W; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA<sup>Trp</sup> and remarkable mitochondrial dysfunction.

Journal of medical genetics
2020-11 | Journal article
DOI: 10.1136/jmedgenet-2020-107323
PMID: 33208382
Contributors: Ji K; Lin Y; Xu X; Wang W; Wang D; Zhang C; Li W; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

Voltage-dependent anion channels mediated apoptosis in refractory epilepsy.

Open medicine (Warsaw, Poland)
2020-08 | Journal article
DOI: 10.1515/med-2020-0113
PMID: 33336032
PMC: PMC7712518
Contributors: Zhao Y; Jiang WJ; Ma L; Lin Y; Wang XB
Source: Self-asserted source
Yan Lin via Europe PubMed Central

A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome.

Mitochondrion
2020-07 | Journal article
DOI: 10.1016/j.mito.2020.06.011
PMID: 32659360
Contributors: Lin Y; Xu X; Zhao D; Liu F; Luo Y; Du J; Wang D; Ji K; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

"Myo-neuropathy" is commonly associated with mitochondrial tRNA<sup>Lysine</sup> mutation.

Journal of neurology
2020-06 | Journal article
DOI: 10.1007/s00415-020-10017-z
PMID: 32577866
Contributors: Ji K; Zhao B; Lin Y; Wang W; Liu F; Li W; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

Accuracy of FGF-21 and GDF-15 for the diagnosis of mitochondrial disorders: A meta-analysis.

Annals of clinical and translational neurology
2020-06 | Journal article
DOI: 10.1002/acn3.51104
PMID: 32585080
PMC: PMC7359119
Contributors: Lin Y; Ji K; Ma X; Liu S; Li W; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA<sup>Gln</sup> m.4349C>T Variant.

Annals of clinical and translational neurology
2020-06 | Journal article
DOI: 10.1002/acn3.51069
PMID: 32588991
PMC: PMC7318088
Contributors: Ji K; Wang W; Lin Y; Xu X; Liu F; Wang D; Zhao Y; Yan C
Source: Self-asserted source
Yan Lin via Europe PubMed Central

The role of repetitive transcranial magnetic stimulation (rTMS) in the treatment of cognitive impairment in patients with Alzheimer's disease: A systematic review and meta-analysis.

Journal of the neurological sciences
2019-01 | Journal article
DOI: 10.1016/j.jns.2019.01.038
PMID: 30735817
Contributors: Lin Y; Jiang WJ; Shan PY; Lu M; Wang T; Li RH; Zhang N; Ma L
Source: Self-asserted source
Yan Lin via Europe PubMed Central

Subjective cognitive decline: preclinical manifestation of Alzheimer's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2018-11 | Journal article
DOI: 10.1007/s10072-018-3620-y
PMID: 30397816
Contributors: Lin Y; Shan PY; Jiang WJ; Sheng C; Ma L
Source: Self-asserted source
Yan Lin via Europe PubMed Central

Progressive Venous Thrombosis in an 18-Year-Old Man with Down Syndrome.

Chinese medical journal
2018-10 | Journal article
DOI: 10.4103/0366-6999.243552
PMID: 30334533
PMC: PMC6202599
Contributors: Lin Y; Ma L; Jiang WJ; Liu YM
Source: Self-asserted source
Yan Lin via Europe PubMed Central
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