Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review

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