In one paragraphArticle in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
19 authors.
Qifang HeDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0006-8192-9170 Xiaodan LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0001-6041-7009 Yuhua LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0000-8151-6743 Zeling ZhengDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0003-0458-6352 Minghui ZengDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0003-0585-3176 Fuze ZhengDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0001-0877-1059 Xinyue ChenDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0008-3564-9703 Xinrong XuDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0003-1979-2415 Binghuang LiuDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0006-6761-1756 Shuhui ZhuDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0006-2730-7821 Yali HongDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0008-3165-0563 Lin LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0003-3018-494X Xin LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.
Ying ZhengDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0006-8899-1495 Liang-Liang QiuDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0002-1983-3331 Feng LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0002-6211-4017 Ning WangDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0002-9655-9735 Min-Ting LinDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0009-0001-9238-0666 Zhiqiang WangDepartment of Neurology, Fujian Institute of Neurology, the First Affiliated Hospital Fujian Medical University; and Fujian Key Laboratory of Molecular Neurology, Institute of Neuroscience, Fujian Medical University, Fuzhou, China; and.ORCID https://orcid.org/0000-0003-2796-6318 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Background and Objectives: Facioscapulohumeral muscular dystrophy (FSHD) includes approximately 10%-30% sporadic cases, where de novo pathogenic variants are hypothesized to be associated with more severe phenotypes. However, the systematic clinical characteristics and natural history of these cases remain poorly defined. Methods: This retrospective observational cohort study was conducted at the Fujian Neuromedical Center, enrolling patients with genetically confirmed FSHD who were classified as de novo (dnFSHD) when no pathogenic D4Z4 contraction was detected in blood samples from either available parent. Clinical and genetic parameters at baseline and during subsequent evaluations were compared between dnFSHD and familial FSHD (fFSHD). The fFSHD cohort was matched for sex and disease duration. Mediation analysis was applied to explore the relationships among de novo pathogenic variants, the number of D4Z4 repeats, and disease progression. Results: A total of 92 patients with genetically confirmed FSHD who were classified as de novo cases were included, representing 17.8% of all FSHD type 1 cases. Compared with fFSHD, patients with dnFSHD exhibited an earlier age at onset (median: 10 years vs 16 years, Discussion: This study establishes dnFSHD as a distinct, high-risk FSHD subtype characterized by unique clinical features, with its severe phenotype primarily mediated by a shorter D4Z4 repeat array.
Identifiers
PMID42701343
PMCPMC13545004
What OpenQuestion holds
Textmetadata
Read underepoch 390