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PubPharm (46)
1
Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration
enthalten in:
Protein & cell
| 2024
von
Li, Y.
|
Liu, X.
|
Sun, X.
| +11
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2
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Cao, Y.
|
Zheng, H.
|
Zhu, Z.
| +3
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3
A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA : genetic and functional analyses
enthalten in:
Acta neurologica Belgica
| 2024
von
Tian, W.
|
Yao, L.
|
Shi, G.
| +2
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4
An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia
enthalten in:
Advanced science (Weinheim, Baden-Wurttemberg, Germany)
| 2024
von
Luo, H.
|
Huang, X.
|
Li, Z.
| +8
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5
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Wu, J.
|
Cheng, X.
|
Ji, D.
| +13
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6
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
enthalten in:
Clinical genetics
| 2024
von
Yao, L.
|
Cao, Y.
|
Zhang, C.
| +3
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7
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease : Expansion of the Phenotypic and Genetic Spectrum
enthalten in:
Journal of clinical neurology (Seoul, Korea)
| 2024
von
Zhan, F.
|
Tian, W.
|
Cao, Y.
| +6
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8
Spastic paraplegia type 76 due to novel CAPN1 mutations : three case reports with literature review
enthalten in:
Neurogenetics
| 2023
von
Zhu, Z.
|
Hou, W.
|
Cao, Y.
| +3
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9
A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses
enthalten in:
Acta neurologica Belgica
| 2023
von
Tian, W.
|
Yao, L.
|
Shi, G.
| +2
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10
PLP1 gene mutations cause spastic paraplegia type 2 in three families
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Yao, L.
|
Zhu, Z.
|
Zhang, C.
| +2
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8
Journal of neurology
6
Molecular neurodegeneration
4
Metabolic brain disease
3
Clinical neurology and neurosurgery
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Acta neurologica Belgica
2
Annals of clinical and translational neurology
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Frontiers in neurology
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Movement disorders : official journal of the Mo...
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ResearchSquare.com
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Journal of clinical neurology (Seoul, Korea)
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Thema
25
Journal Article
10
Research Support, Non-U.S. Gov't
7
Case Reports
5
Review
4
16p11.2 Microdeletion
4
DNA methylation
4
Epigenetics
4
Genotype–phenotype correlation
4
Leukoencephalopathy
4
MMDS
4
Mitochondrial disorders
4
Multiple mitochondrial dysfunction syndrome
4
Neuronal intranuclear inclusion disease
4
Parkinson’s disease
4
Paroxysmal kinesigenic dyskinesia
3
And aging
3
Dendritic hypotrophy
3
Depression
3
Excitability
3
G2019S
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Erscheinungszeitraum
42
2020-
4
2010-2019
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45
Englisch
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