标题
Identification of TMEM230 mutations in familial Parkinson's disease
作者
关键词
-
出版物
NATURE GENETICS
Volume 48, Issue 7, Pages 733-739
出版商
Springer Nature
发表日期
2016-06-07
DOI
10.1038/ng.3589
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。- Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases
- (2016) Martin Steger et al. eLife
- The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
- (2015) Ignacio F. Mata et al. Molecular Neurodegeneration
- Key mendelian variants
- (2015) NATURE GENETICS
- Multisystem Lewy body disease and the other parkinsonian disorders
- (2015) J William Langston et al. NATURE GENETICS
- DNAJC13 mutations in Parkinson disease
- (2013) Carles Vilariño-Güell et al. HUMAN MOLECULAR GENETICS
- Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
- (2013) Marialuisa Quadri et al. HUMAN MUTATION
- The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures
- (2013) Catharine E. Krebs et al. HUMAN MUTATION
- Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
- (2013) K. Nuytemans et al. NEUROLOGY
- Identification and Rescue of -Synuclein Toxicity in Parkinson Patient-Derived Neurons
- (2013) C. Y. Chung et al. SCIENCE
- Yeast Reveal a "Druggable" Rsp5/Nedd4 Network that Ameliorates -Synuclein Toxicity in Neurons
- (2013) D. F. Tardiff et al. SCIENCE
- Genetics of Parkinson's Disease
- (2013) C. Klein et al. Cold Spring Harbor Perspectives in Medicine
- Template-based protein structure modeling using the RaptorX web server
- (2012) Morten Källberg et al. Nature Protocols
- 100 years of Lewy pathology
- (2012) Michel Goedert et al. Nature Reviews Neurology
- A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
- (2012) Simon Edvardson et al. PLoS One
- A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
- (2011) Alexander Zimprich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
- (2011) Marie-Christine Chartier-Harlin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- VPS35 Mutations in Parkinson Disease
- (2011) Carles Vilariño-Güell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recent Advances in the Genetics of Parkinson's Disease
- (2011) Ian Martin et al. Annual Review of Genomics and Human Genetics
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- I-TASSER: a unified platform for automated protein structure and function prediction
- (2010) Ambrish Roy et al. Nature Protocols
- Genetic Animal Models of Parkinson's Disease
- (2010) Ted M. Dawson et al. NEURON
- A Selective Filter for Cytoplasmic Transport at the Axon Initial Segment
- (2009) Ai-hong Song et al. CELL
- Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
- (2009) Han-Xiang Deng et al. NATURE GENETICS
- Protein structure prediction on the Web: a case study using the Phyre server
- (2009) Lawrence A Kelley et al. Nature Protocols
- Huntingtin as an essential integrator of intracellular vesicular trafficking
- (2009) Juliane P. Caviston et al. TRENDS IN CELL BIOLOGY
- Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
- (2008) Corinne Lautier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays
- (2008) Seyedmehdi Shojaee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic investigation of α-synuclein multiplication and parkinsonism
- (2008) Owen A. Ross et al. ANNALS OF NEUROLOGY
- Characterization of PLA2G6 as a locus for dystonia-parkinsonism
- (2008) Coro Paisan-Ruiz et al. ANNALS OF NEUROLOGY
- Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
- (2008) C. Wider et al. PARKINSONISM & RELATED DISORDERS
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