Related references
Note: Only part of the references are listed.Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
Laura Herrmann et al.
PARKINSONISM & RELATED DISORDERS (2022)
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Andreas Traschutz et al.
NEUROLOGY (2021)
RFC1-related ataxia is a mimic of early multiple system atrophy
Roisin Sullivan et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)
Brain Structural Signature of RFC1-Related Disorder
Paula Camila A. A. P. Matos et al.
MOVEMENT DISORDERS (2021)
The Cerebellar Cognitive Affective/Schmahmann Syndrome: a Task Force Paper
Georgios P. D. Argyropoulos et al.
CEREBELLUM (2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFCI repeat expansion
Andrea Cortese et al.
BRAIN (2020)
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
Haruko Nakamura et al.
JOURNAL OF HUMAN GENETICS (2020)
New generation genetic testing entering the clinic
Sorina Gorcenco et al.
PARKINSONISM & RELATED DISORDERS (2020)
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data
Haloom Rafehi et al.
MOVEMENT DISORDERS (2020)
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
Mai Tsuchiya et al.
JOURNAL OF HUMAN GENETICS (2020)
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani et al.
NEUROLOGY-GENETICS (2020)
Biallelic IntronicAAGGGExpansion of RFC1 is Related to Multiple System Atrophy
Linlin Wan et al.
ANNALS OF NEUROLOGY (2020)
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Sarah J. Beecroft et al.
BRAIN (2020)
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions
Gabriel da Silva Schmitt et al.
MOVEMENT DISORDERS (2020)
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Carolin K. Scriba et al.
BRAIN (2020)
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko et al.
GENOME BIOLOGY (2020)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese et al.
NATURE GENETICS (2019)
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Haloom Rafehi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Jun Sone et al.
NATURE GENETICS (2019)
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Hiroyuki Ishiura et al.
NATURE GENETICS (2019)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Mark A. Corbett et al.
NATURE COMMUNICATIONS (2019)
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
Fulya Akcimen et al.
FRONTIERS IN GENETICS (2019)
Spinocerebellar ataxia: an update
Roisin Sullivan et al.
JOURNAL OF NEUROLOGY (2019)
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
Daniele Galatolo et al.
NEUROGENETICS (2018)
Detection of long repeat expansions from PCR-free whole-genome sequence data
Egor Dolzhenko et al.
GENOME RESEARCH (2017)
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China
Hiroyuki Naito et al.
PLOS ONE (2017)
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Xiaoyu Chen et al.
BIOINFORMATICS (2016)
Canvas: versatile and scalable detection of copy number variants
Eric Roller et al.
BIOINFORMATICS (2016)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Mobster: accurate detection of mobile element insertions in next generation sequencing data
Djie Tjwan Thung et al.
GENOME BIOLOGY (2014)
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Menachem Fromer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
Hatasu Kobayashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Accurate and exact CNV identification from targeted high-throughput sequence data
Alex S. Nord et al.
BMC GENOMICS (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
Rehana Basri et al.
JOURNAL OF HUMAN GENETICS (2007)
Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
Hiroaki Nozaki et al.
MOVEMENT DISORDERS (2007)
Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign
AA Migliaccio et al.
BRAIN (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Share Paper
