Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
出版年份 2019 全文链接
标题
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
作者
关键词
-
出版物
NATURE GENETICS
Volume 51, Issue 8, Pages 1222-1232
出版商
Springer Science and Business Media LLC
发表日期
2019-07-23
DOI
10.1038/s41588-019-0458-z
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation
- (2018) Ikuo K. Suzuki et al. CELL
- Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
- (2018) Ian T. Fiddes et al. CELL
- Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- (2018) Hiroyuki Ishiura et al. NATURE GENETICS
- Intron retention induced by microsatellite expansions as a disease biomarker
- (2018) Łukasz J. Sznajder et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy
- (2018) Nanaka Yamaguchi et al. INTERNAL MEDICINE
- Fast and accurate de novo genome assembly from long uncorrected reads
- (2017) Robert Vaser et al. GENOME RESEARCH
- Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation
- (2017) Sergey Koren et al. GENOME RESEARCH
- Case of a 78-year-old woman with a neuronal intranuclear inclusion disease
- (2017) Hiroshi Takumida et al. Geriatrics & Gerontology International
- PML Nuclear Bodies Are Altered in Adult-Onset Neuronal Intranuclear Hyaline Inclusion Disease
- (2017) Yuta Nakano et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- AgIn: measuring the landscape of CpG methylation of individual repetitive elements
- (2016) Yuta Suzuki et al. BIOINFORMATICS
- Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
- (2016) Jun Sone et al. BRAIN
- Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults
- (2016) Junko Takahashi-Fujigasaki et al. Geriatrics & Gerontology International
- Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene
- (2016) Joana R. Loureiro et al. NEUROBIOLOGY OF AGING
- Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
- (2015) Pietro Fratta et al. NEUROBIOLOGY OF AGING
- Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
- (2015) Juan Zhao et al. PLoS One
- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing
- (2013) Koichiro Doi et al. BIOINFORMATICS
- Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy
- (2013) J. Sone et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
- (2013) Peter K. Todd et al. NEURON
- Prevalence of CGG expansions of the FMR1 gene in a US population-based sample
- (2012) Marsha Mailick Seltzer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- CpG_MPs: identification of CpG methylation patterns of genomic regions from high-throughput bisulfite sequencing data
- (2012) Jianzhong Su et al. NUCLEIC ACIDS RESEARCH
- Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
- (2011) Michael R. Hunsaker et al. ACTA NEUROPATHOLOGICA
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
- (2011) J. Sone et al. NEUROLOGY
- Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients
- (2011) H. Durmus et al. NEUROLOGY
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Direct detection of DNA methylation during single-molecule, real-time sequencing
- (2010) Benjamin A Flusberg et al. NATURE METHODS
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data
- (2009) Yoko Fukuda et al. BMC BIOINFORMATICS
- Expanded clinical phenotype of women with theFMR1 premutation
- (2008) Sarah M. Coffey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PCR-amplification of GC-rich regions: 'slowdown PCR'
- (2008) Ulrich H Frey et al. Nature Protocols
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