Yi-Heng Zeng
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Explore the profile of Yi-Heng Zeng including associated specialties, affiliations and a list of published articles.
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16
Citations
67
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Recent Articles
1.
Lin J, Li Y, Chen B, Su H, Zeng Y, Zeng R, et al.
Ann Clin Transl Neurol
. 2024 Nov;
11(11):2998-3009.
PMID: 39482827
Objective: Expand genetic screening for atypical Type I sialidosis (ST-1) could address its underdiagnosed in both progressive myoclonic ataxia (PMA) and ataxia patients. To evaluate the potential founder effect of...
2.
Zhao M, Cheng X, Chen L, Zeng Y, Lin K, Li Y, et al.
Neuron
. 2024 Aug;
112(19):3278-3294.e7.
PMID: 39121859
Primary familial brain calcification (PFBC) is a genetic neurological disease, yet no effective treatment is currently available. Here, we identified five novel intronic variants in SLC20A2 gene from six PFBC...
3.
Zeng Y, Zuo D, Wang Z, Zhu J
Mov Disord
. 2024 Jul;
39(10):1894-1896.
PMID: 38965776
No abstract available.
4.
Zheng Z, Cao C, Cheng B, Yuan R, Zeng Y, Guo Z, et al.
J Hum Genet
. 2024 Jun;
69(9):433-440.
PMID: 38866925
Background: Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 ataxia). We aim to determine the prevalence of the...
5.
Lin X, Jiang J, Hong D, Lin K, Li J, Chen Y, et al.
Mov Disord
. 2023 Nov;
39(1):152-163.
PMID: 38014483
Background: Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower-extremity spasticity. Despite the identification of several HSP-related genes, many patients lack a genetic diagnosis. Objectives: The aims were...
6.
7.
Zhao M, Su H, Zeng Y, Sun Y, Guo X, Li Y, et al.
Cell Discov
. 2022 Nov;
8(1):128.
PMID: 36443312
Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes...
8.
He J, Liu X, Ma M, Lin J, Fu J, Chen Y, et al.
Ann Neurol
. 2022 Sep;
93(2):244-256.
PMID: 36088542
Objective: Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs)...
9.
Zhao M, Lin X, Zeng Y, Su H, Wang C, Yang K, et al.
Mol Brain
. 2022 Jul;
15(1):65.
PMID: 35870928
Primary familial brain calcification (PFBC) is a neurogenetic disorder characterized by bilateral calcified deposits in the brain. We previously identified that MYORG as the first pathogenic gene for autosomal recessive...
10.
Zeng Y, Yang K, Du G, Chen Y, Cao C, Qiu Y, et al.
Ann Neurol
. 2022 Jun;
92(3):512-526.
PMID: 35700120
Objective: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ptosis, dysarthria, ophthalmoplegia, and distal muscle weakness. Recent studies revealed that GGC repeat expansions in 5'-UTR of LRP12,...