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PubPharm (9)
1
An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1
enthalten in:
Brain : a journal of neurology
| 2023
von
Zheng, F.
|
Qiu, L.
|
Chen, L.
| +8
CommentOn: Brain. 2023 Apr 19;146(4):1388-1402. - PMID 36100962
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2
Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy
enthalten in:
Neurology
| 2023
von
Zheng, F.
|
Qiu, L.
|
Chen, L.
| +15
CommentIn: Neurology. 2023 Jul 18;101(3):97-98. - PMID 37277202
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3
The China facioscapulohumeral muscular dystrophy type 1 (FSHD1) registry: rationale for and description of a nationwide, observational cohort study
enthalten in:
ResearchSquare.com
| 2022
von
Qiu, L.
|
Chen, L.
|
Zheng, F.
| +11
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4
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population
enthalten in:
Brain : a journal of neurology
| 2022
von
Qiu, L.
|
Chen, L.
|
Zheng, F.
| +5
CommentIn: Brain. 2022 Jun 30;145(6):e55-e56. - PMID 35302588
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5
Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1
enthalten in:
Stem cell research
| 2022
von
Zheng, F.
|
Chen, L.
|
Qiu, L.
| +7
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6
Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020 : a nationwide population-based study
enthalten in:
The Lancet regional health. Western Pacific
| 2022
von
Wang, Z.
|
Qiu, L.
|
Lin, M.
| +14
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7
Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy
enthalten in:
Journal of medical genetics
| 2020
von
Qiu, L.
|
Ye, Z.
|
Lin, L.
| +11
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8
Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families
enthalten in:
Neuromuscular disorders : NMD
| 2020
von
Chen, H.
|
Xu, G.
|
Lin, F.
| +7
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9
ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease
enthalten in:
Human mutation
| 2019
von
He, J.
|
Guo, L.
|
Lin, S.
| +8
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1
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Brain : a journal of neurology
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Neuromuscular disorders : NMD
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Muscle MRI
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