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PubPharm (88)
1
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa
enthalten in:
Neuropathology : official journal of the Japanese Society of Neuropathology
| 2024
von
Li, Z.
|
Li, Y.
|
Chu, X.
| +10
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2
Quantifying Microvascular Structure in Healthy and Infarcted Rat Hearts Using Optical Coherence Tomography Angiography
enthalten in:
IEEE transactions on medical imaging
| 2024
von
Xie, Z.
|
Zeinstra, N.
|
Kirby, M.
| +4
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3
A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy : A case report
enthalten in:
Heliyon
| 2024
von
Liu, C.
|
Lu, Y.
|
Yu, H.
| +10
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4
Ion Pairing Enables Targeted Prodrug Activation via Red Light Photocatalysis : A Proof-of-Concept Study with Anticancer Gold Complexes
enthalten in:
Journal of the American Chemical Society
| 2024
von
Xie, Z.
|
Cao, B.
|
Zhao, J.
| +7
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5
Clinical and genetic interpretation of uncertain DMD missense variants : evidence from mRNA and protein studies
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Xie, Z.
|
Liu, C.
|
Yu, H.
| +14
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6
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Xie, Z.
|
Liu, C.
|
Yu, H.
| +14
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7
A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data
enthalten in:
Journal of cachexia, sarcopenia and muscle
| 2024
von
Xie, Z.
|
Liu, C.
|
Sun, C.
| +14
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8
A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Xie, Z.
|
Sun, C.
|
Liu, C.
| +11
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9
Recent advances in hypoxia-activated compounds for cancer diagnosis and treatment
enthalten in:
Bioorganic chemistry
| 2024
von
Yuan, X.
|
Xie, Z.
|
Zou, T.
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10
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Zhao, Y.
|
Hou, Y.
|
Zhao, X.
| +7
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88
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Zeitschriftentitel
7
Journal of neurology
6
Orphanet journal of rare diseases
4
Annals of clinical and translational neurology
3
American journal of human genetics
3
Annals of Clinical and Translational Neurology
3
IEEE transactions on medical imaging
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Acta Neuropathologica Communications
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Thema
53
Journal Article
23
Research Support, Non-U.S. Gov't
8
Case Reports
8
Dystrophin
6
Aberrant splicing
6
DMD
6
RNA, Messenger
5
Dystrophinopathies
5
Genotype
5
Parkinson’s disease
5
Phenotype
4
Ccf-mtDNA
4
Chinesisch
4
Inflammation
4
Mitochondrial diseases
4
Research Support, N.I.H., Extramural
4
cGAS-STING pathway
3
Alpha-synuclein
3
Astrocytes
3
Becker muscular dystrophy
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Erscheinungszeitraum
70
2020-
17
2010-2019
1
2000-2009
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Englisch
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