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Article
Correction to: RFC1‑related disorder presenting recurrent syncope
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Article
RFC1-related disorder presenting recurrent syncope
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Article
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease
While multiple system atrophy (MSA) has been considered a sporadic disease, there were previously reported multiplex families with MSA. Furthermore, several families with multiple patients with MSA and Parkins...
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Chapter and Conference Paper
Simulating Multivariate Natural and Large-Scale Laboratory Hydro-Morphodynamic Data Using Copula Approach
The morphodynamic behavior of coastal areas is strongly influenced by interconnected hydrodynamic parameters. Considering the correlation between variables, it becomes crucial to account for the multivariate d...
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Article
Open AccessCorrection: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
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Article
Open AccessA Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a powerful method for determining causative mutations of early-o...
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Article
Open AccessMeningiomas in patients with neurofibromatosis type 2 predominantly comprise ‘immunogenic subtype’ tumours characterised by macrophage infiltration
Although recent molecular analyses revealed that sporadic meningiomas have various genetic, epigenetic, and transcriptomic profiles, meningioma in patients with neurofibromatosis type 2 (NF2) have not been ful...
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Article
Open AccessSomatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > ...
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Chapter
Coenzyme Q10 in Multiple System Atrophy
Multiple system atrophy (MSA) is a progressive neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. We...
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Article
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by FMR1 premutation expansion of CGG repeats. FXTAS can be misdiagnosed with many neurodegenerative disorder...
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Article
Open AccessValosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Previously ident...
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Article
Open AccessComplex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nucl...
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Article
Open AccessEarly prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing
Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients’ lives. We performed a retros...
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Article
Open AccessClinical significance of NF2 alteration in grade I meningiomas revisited; prognostic impact integrated with extent of resection, tumour location, and Ki-67 index
NF2 alteration is the most commonly–found genetic abnormality in meningiomas and is known to initiate events for aggressive-type meningiomas. Whereas the prognosis of meningiomas differs depending on their epigen...
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Article
A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation
Dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant cerebellar ataxia with various signs and symptoms, including progressive ataxia, choreoathetosis, dementia, myoclonus, psychiatric problems, ...
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Article
Open AccessBrainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review
Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, bu...
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Article
Open AccessAssociations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges
Certain driver mutations and pathological diagnoses are associated with the anatomical site of meningioma, based on which the meninges have different embryological origins. We hypothesized that mutations and p...
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Article
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis
Our objective was to investigate the frequency of KIF5A variants in amyotrophic lateral sclerosis (ALS) and the clinical characteristics of familial ALS (FALS) associated with variants in KIF5A. Whole-exome seque...
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Article
Germline MICA Polymorphism Is Associated with the Long-Term Outcomes in Patients Undergoing Hepatectomy for Colorectal Liver Metastases
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Article
Open AccessComprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis
Intracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide. RNF213 single nucleotide variant c.14429G > A (p.Arg4810Lys, rs112735431) was recently reported to be associated with ICA...
