Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review
出版年份 2022 全文链接
标题
Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review
作者
关键词
-
出版物
CLINICAL NEUROLOGY AND NEUROSURGERY
Volume -, Issue -, Pages 107503
出版商
Elsevier BV
发表日期
2022-10-30
DOI
10.1016/j.clineuro.2022.107503
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。- Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform
- (2020) Liang Hu et al. Frontiers in Genetics
- Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
- (2020) Luiz Eduardo NOVIS et al. ARQUIVOS DE NEURO-PSIQUIATRIA
- Long-read human genome sequencing and its applications
- (2020) Glennis A. Logsdon et al. NATURE REVIEWS GENETICS
- Genome-wide detection of short tandem repeat expansions by long-read sequencing
- (2020) Qian Liu et al. BMC BIOINFORMATICS
- Spinocerebellar ataxia
- (2019) Thomas Klockgether et al. Nature Reviews Disease Primers
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
- (2019) Jun Sone et al. NATURE GENETICS
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Cerebellar ataxias
- (2019) Mario Manto et al. CURRENT OPINION IN NEUROLOGY
- Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome
- (2019) Christopher M. Watson et al. HUMAN MUTATION
- Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
- (2018) Sheng Zeng et al. JOURNAL OF MEDICAL GENETICS
- Spinocerebellar ataxia: an update
- (2018) Roisin Sullivan et al. JOURNAL OF NEUROLOGY
- Long-read genome sequencing identifies causal structural variation in a Mendelian disease
- (2017) Jason D Merker et al. GENETICS IN MEDICINE
- The potential impact of nanopore sequencing on human genetics
- (2017) Matthew W. Loose HUMAN MOLECULAR GENETICS
- Potential multisystem degeneration in Asidan patients
- (2017) Yasuyuki Ohta et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China
- (2016) S. Zeng et al. CLINICAL GENETICS
- Spinocerebellar ataxia: relationship between phenotype and genotype - a review
- (2016) Y.-M. Sun et al. CLINICAL GENETICS
- Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion
- (2014) Masato Obayashi et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
- (2012) María García-Murias et al. BRAIN
- Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan
- (2012) K. Abe et al. EUROPEAN JOURNAL OF NEUROLOGY
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
- (2012) E. W. Loomis et al. GENOME RESEARCH
- Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36
- (2012) Yoshio Ikeda et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients
- (2012) Katsunobu Sugihara et al. MOVEMENT DISORDERS
- Clinical features of SCA36: A novel spinocerebellar ataxia with motor neuron involvement (Asidan)
- (2012) Y. Ikeda et al. NEUROLOGY
- Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
- (2011) Hatasu Kobayashi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis
- (2010) Elaine Lyon et al. JOURNAL OF MOLECULAR DIAGNOSTICS
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