标题
Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism
作者
关键词
-
出版物
Frontiers in Neurology
Volume 12, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2021-03-25
DOI
10.3389/fneur.2021.648457
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians
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- The genetic landscape of Parkinson's disease
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- Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene
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- A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations
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- SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
- (2017) Nuha Al Zaabi et al. Molecular Genetics & Genomic Medicine
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
- (2016) Suzanne Lesage et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
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- Novel compound heterozygous synaptojanin-1 mutation causesl-dopa-responsive dystonia-parkinsonism syndrome
- (2016) Marc-Alexander Rauschendorf et al. MOVEMENT DISORDERS
- Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism
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- Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology
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- Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family
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- PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
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- Synaptojanin 1 Mutation in Parkinson’s Disease Brings Further Insight into the Neuropathological Mechanisms
- (2014) Valérie Drouet et al. Biomed Research International
- Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
- (2013) Marialuisa Quadri et al. HUMAN MUTATION
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- Altered neurotransmitter release, vesicle recycling and presynaptic structure in the pilocarpine model of temporal lobe epilepsy
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